Variant report

Variant	nsv899499
Chromosome Location	chr12:105616297-105722529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2152)
CpG islands
(count:1039)
Chromatin interactive
region (count:89)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2152 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:105671975-105672272	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:105629662-105630339	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:105703419-105703526	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:105683385-105683495	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:105675600-105675877	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:105711595-105712381	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:105674891-105674940	HepG2	liver:	n/a	n/a
8	ATF1	chr12:105633244-105633314	K562	blood:	n/a	n/a
9	ATF1	chr12:105649824-105650015	K562	blood:	n/a	n/a
10	ATF2	chr12:105720581-105721139	GM12878	blood:	n/a	n/a
11	ATF2	chr12:105630022-105630380	GM12878	blood:	n/a	n/a
12	ATF3	chr12:105629753-105630307	A549	lung:	n/a	n/a
13	ATF3	chr12:105666862-105666993	K562	blood:	n/a	n/a
14	ATF3	chr12:105711666-105712566	A549	lung:	n/a	n/a
15	BACH1	chr12:105688912-105689147	H1-hESC	embryonic stem cell:	n/a	chr12:105689051-105689065
16	BACH1	chr12:105629499-105630249	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr12:105720666-105720974	GM12878	blood:	n/a	chr12:105720863-105720874
18	BATF	chr12:105720698-105720992	GM12878	blood:	n/a	chr12:105720863-105720874
19	BCL11A	chr12:105720683-105720862	GM12878	blood:	n/a	n/a
20	BCL11A	chr12:105720616-105721028	GM12878	blood:	n/a	n/a
21	BCL3	chr12:105711489-105712534	A549	lung:	n/a	n/a
22	BCL3	chr12:105629823-105630623	A549	lung:	n/a	chr12:105630016-105630025 chr12:105629987-105629996
23	BCL3	chr12:105711785-105712566	A549	lung:	n/a	n/a
24	BCLAF1	chr12:105629741-105630263	GM12878	blood:	n/a	chr12:105630016-105630025 chr12:105629987-105629996
25	BCLAF1	chr12:105629832-105630264	GM12878	blood:	n/a	chr12:105630016-105630025 chr12:105629987-105629996
26	BCLAF1	chr12:105720545-105721286	GM12878	blood:	n/a	n/a
27	BHLHE40	chr12:105622370-105622505	GM12878	blood:	n/a	n/a
28	BHLHE40	chr12:105714958-105715535	HepG2	liver:	n/a	n/a
29	BHLHE40	chr12:105720705-105721059	GM12878	blood:	n/a	n/a
30	BHLHE40	chr12:105620147-105620258	K562	blood:	n/a	n/a
31	BHLHE40	chr12:105626000-105626004	A549	lung:	n/a	n/a
32	BHLHE40	chr12:105629385-105630169	K562	blood:	n/a	n/a
33	BHLHE40	chr12:105629860-105630292	GM12878	blood:	n/a	n/a
34	BHLHE40	chr12:105651523-105651557	K562	blood:	n/a	n/a
35	BRCA1	chr12:105629591-105629777	HepG2	liver:	n/a	n/a
36	BRCA1	chr12:105647641-105647747	Hela-S3	cervix:	n/a	n/a
37	CBX3	chr12:105707594-105707869	K562	blood:	n/a	n/a
38	CBX3	chr12:105693475-105693660	K562	blood:	n/a	n/a
39	CBX3	chr12:105707565-105707846	K562	blood:	n/a	n/a
40	CBX3	chr12:105702619-105702940	K562	blood:	n/a	n/a
41	CBX3	chr12:105629877-105630206	K562	blood:	n/a	n/a
42	CCNT2	chr12:105629508-105630253	K562	blood:	n/a	n/a
43	CEBPB	chr12:105669910-105670048	A549	lung:	n/a	n/a
44	CEBPB	chr12:105683407-105683503	Hela-S3	cervix:	n/a	chr12:105683445-105683456
45	CEBPB	chr12:105683306-105683595	A549	lung:	n/a	chr12:105683445-105683456
46	CEBPB	chr12:105711807-105712243	A549	lung:	n/a	n/a
47	CEBPB	chr12:105686500-105687523	A549	lung:	n/a	chr12:105687023-105687034 chr12:105687023-105687034 chr12:105687163-105687174
48	CEBPB	chr12:105669833-105670015	K562	blood:	n/a	n/a
49	CEBPB	chr12:105711232-105712721	A549	lung:	n/a	n/a
50	CEBPB	chr12:105713492-105713734	IMR90	lung:	n/a	n/a

(count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:105631413-105631463	NB4	blood:	n/a
2	chr12:105626788-105626838	HRCEpiC	kidney:	n/a
3	chr12:105631413-105631463	NB4	blood:	n/a
4	chr12:105626788-105626838	HRCEpiC	kidney:	n/a
5	chr12:105629798-105629848	CMK	blood:	n/a
6	chr12:105630771-105630821	HCF	heart:	n/a
7	chr12:105630771-105630821	A549	lung:	n/a
8	chr12:105622107-105622157	AG04450	lung:	fetal
9	chr12:105630059-105630109	Hela-S3	cervix:	n/a
10	chr12:105629798-105629848	ProgFib	skin:	n/a
11	chr12:105626788-105626838	GM12878	blood:	n/a
12	chr12:105689861-105689911	A549	lung:	n/a
13	chr12:105622107-105622157	HMEC	breast:	n/a
14	chr12:105622107-105622157	HUVEC	blood vessel:	n/a
15	chr12:105689861-105689911	ovcar-3	ovarian:	n/a
16	chr12:105629518-105629568	SK-N-SH	brain:	n/a
17	chr12:105630063-105630113	SK-N-MC	brain:	n/a
18	chr12:105629798-105629848	IMR90	lung:	fetal
19	chr12:105689861-105689911	HUVEC	blood vessel:	n/a
20	chr12:105630059-105630109	GM12892	blood:	n/a
21	chr12:105626788-105626838	ProgFib	skin:	n/a
22	chr12:105630720-105630770	PANC-1	pancreas:	n/a
23	chr12:105630205-105630255	A549	lung:	n/a
24	chr12:105630720-105630770	AG10803	skin:	n/a
25	chr12:105630720-105630770	HEEpiC	esophagus:	n/a
26	chr12:105630036-105630086	SK-N-SH_RA	brain:	n/a
27	chr12:105630720-105630770	NHBE	bronchial:	n/a
28	chr12:105622107-105622157	GM06990	blood:	n/a
29	chr12:105710210-105710260	HCF	heart:	n/a
30	chr12:105664124-105664174	GM12878	blood:	n/a
31	chr12:105631413-105631463	HUVEC	blood vessel:	n/a
32	chr12:105710210-105710260	NHDF-neo	bronchial:	n/a
33	chr12:105712307-105712357	GM12892	blood:	n/a
34	chr12:105664124-105664174	HRPEpiC	eye:	n/a
35	chr12:105622107-105622157	GM19239	blood:	n/a
36	chr12:105629755-105629805	HCT-116	colon:	n/a
37	chr12:105633626-105633676	HUVEC	blood vessel:	n/a
38	chr12:105630771-105630821	Caco-2	colon:	n/a
39	chr12:105689861-105689911	Caco-2	colon:	n/a
40	chr12:105712307-105712357	NH-A	brain:	n/a
41	chr12:105630720-105630770	BJ	skin:	n/a
42	chr12:105630036-105630086	HL-60	blood:	n/a
43	chr12:105630063-105630113	H1-hESC	embryonic stem cell:	embryo
44	chr12:105629518-105629568	PFSK-1	brain:	n/a
45	chr12:105631413-105631463	CMK	blood:	n/a
46	chr12:105629518-105629568	HCPEpiC	choroid plexus:	n/a
47	chr12:105626788-105626838	HNPCEpiC	eye:	n/a
48	chr12:105630205-105630255	IMR90	lung:	fetal
49	chr12:105630720-105630770	ProgFib	skin:	n/a
50	chr12:105629755-105629805	HRPEpiC	eye:	n/a

(count:89 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:8088360..8089072-chr12:105629548..105630374,2	Hela-S3	cervix:
2	chr12:105626966..105630516-chr12:105673384..105677025,4	MCF-7	breast:
3	chr12:105670361..105673548-chr12:105673621..105675351,3	MCF-7	breast:
4	chr12:105653802..105657280-chr12:105663370..105665652,3	MCF-7	breast:
5	chr12:105599435..105602379-chr12:105626303..105628956,2	K562	blood:
6	chr12:105629495..105630048-chr20:30696905..30697754,2	Hela-S3	cervix:
7	chr12:105660954..105663749-chr12:105664178..105665747,2	MCF-7	breast:
8	chr12:105499627..105501658-chr12:105620143..105622423,2	K562	blood:
9	chr12:105529161..105531125-chr12:105630136..105632646,2	K562	blood:
10	chr12:105715517..105717332-chr12:105717819..105719410,2	MCF-7	breast:
11	chr12:105681803..105683314-chr12:105684988..105687486,2	K562	blood:
12	chr12:105632034..105634612-chr12:105649228..105651077,2	MCF-7	breast:
13	chr12:105666902..105668565-chr12:105668821..105670480,2	MCF-7	breast:
14	chr12:105682564..105686688-chr12:105688570..105690485,3	K562	blood:
15	chr12:105625530..105628305-chr12:105656040..105658851,2	MCF-7	breast:
16	chr12:105499144..105502991-chr12:105627617..105631044,5	MCF-7	breast:
17	chr12:105632034..105634612-chr12:105649228..105651077,2	MCF-7	breast:
18	chr12:105630089..105632839-chr12:105665320..105668612,3	MCF-7	breast:
19	chr12:105611067..105613851-chr12:105616365..105618135,2	MCF-7	breast:
20	chr12:105606795..105619301-chr12:105624368..105633184,26	MCF-7	breast:
21	chr12:105501540..105503183-chr12:105627693..105630661,2	MCF-7	breast:
22	chr12:105615700..105617888-chr12:105626325..105628263,2	K562	blood:
23	chr12:105608225..105613366-chr12:105619333..105624104,5	MCF-7	breast:
24	chr12:105669318..105671725-chr12:105671991..105674954,2	K562	blood:
25	chr12:105682564..105686688-chr12:105688570..105690485,3	K562	blood:
26	chr12:105711659..105713820-chr12:105714084..105716843,2	K562	blood:
27	chr12:105615953..105617646-chr12:105655942..105657913,2	MCF-7	breast:
28	chr12:105628750..105631438-chr12:105722608..105725285,3	MCF-7	breast:
29	chr12:105683253..105685363-chr12:105687997..105690070,2	K562	blood:
30	chr12:105609229..105612971-chr12:105615964..105620947,4	K562	blood:
31	chr12:105605767..105607700-chr12:105638996..105640802,2	MCF-7	breast:
32	chr12:105628535..105631488-chr12:105632035..105634749,3	K562	blood:
33	chr12:105681803..105683314-chr12:105684988..105687486,2	K562	blood:
34	chr12:105610784..105617210-chr12:105628529..105631630,8	MCF-7	breast:
35	chr12:105715517..105717332-chr12:105717819..105719410,2	MCF-7	breast:
36	chr12:105615953..105617646-chr12:105655942..105657913,2	MCF-7	breast:
37	chr12:105628899..105630525-chr15:65596241..65598833,2	MCF-7	breast:
38	chr12:105673064..105673821-chr12:105772193..105773537,4	MCF-7	breast:
39	chr12:105669318..105671725-chr12:105671991..105674954,2	K562	blood:
40	chr12:105627699..105634093-chr12:105635156..105638470,6	K562	blood:
41	chr12:105660954..105663749-chr12:105664178..105665747,2	MCF-7	breast:
42	chr12:105500023..105504653-chr12:105628064..105630551,4	K562	blood:
43	chr12:105542946..105545712-chr12:105628511..105631314,2	MCF-7	breast:
44	chr12:105616267..105619374-chr12:105619746..105623496,4	MCF-7	breast:
45	chr12:105670361..105673548-chr12:105673621..105675351,3	MCF-7	breast:
46	chr12:105629476..105630447-chr15:74753281..74753992,2	Hela-S3	cervix:
47	chr12:105646719..105649373-chr12:105657582..105659204,2	K562	blood:
48	chr12:105672889..105673823-chr12:105777116..105777625,2	MCF-7	breast:
49	chr12:105631933..105633893-chr12:105636355..105638544,2	K562	blood:
50	chr12:105672864..105673858-chr12:105772686..105773396,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APPL2-1	chr12:105720682-105720795	ENSG00000257642.1
2	lnc-APPL2-1	chr12:105698645-105698927	ENSG00000257642.1
3	lnc-APPL2-1	chr12:105702407-105702558	ENSG00000257642.1

No data

Variant related genes	Relation type
C12orf75	TF binding region
APPL2	TF binding region
ENSG00000264749	TF binding region
ENSG00000257642	TF binding region
C12orf75	CpG island
APPL2	CpG island
ENSG00000264749	CpG island
ENSG00000257642	CpG island
ENSG00000175061	chromatin interactions
ENSG00000059804	chromatin interactions
ENSG00000117318	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000136051	chromatin interactions
ENSG00000267959	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000266651	chromatin interactions
ENSG00000138629	chromatin interactions
ENSG00000257999	chromatin interactions
ENSG00000247240	chromatin interactions
ENSG00000136044	chromatin interactions
ENSG00000101337	chromatin interactions
ENSG00000235162	chromatin interactions
ENSG00000198431	chromatin interactions

Extended variants
information (count: 4212 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:4212 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3794227	chr12:105616297-105616298	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145371793	chr12:105616331-105616332	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs551751151	chr12:105616359-105616360	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs189252708	chr12:105616408-105616409	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575439977	chr12:105616463-105616464	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535741900	chr12:105616477-105616478	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs149182487	chr12:105616572-105616573	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs566094155	chr12:105616581-105616582	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs12304384	chr12:105616594-105616595	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571990049	chr12:105616595-105616596	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs146910656	chr12:105616645-105616646	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs537020517	chr12:105616646-105616647	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs556967376	chr12:105616650-105616651	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561330514	chr12:105616662-105616663	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs190418049	chr12:105616671-105616672	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs139300319	chr12:105616672-105616673	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs12815031	chr12:105616694-105616695	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs11112415	chr12:105616748-105616749	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544843378	chr12:105616824-105616825	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs74553697	chr12:105616895-105616896	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs183008057	chr12:105616954-105616955	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs1196768	chr12:105616970-105616971	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs549880238	chr12:105616989-105616990	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs3838811	chr12:105617025-105617026	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs543071722	chr12:105617054-105617055	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs186885397	chr12:105617059-105617060	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs550897358	chr12:105617061-105617062	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs549410959	chr12:105617081-105617082	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs881279	chr12:105617156-105617157	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs535217155	chr12:105617161-105617162	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs552033776	chr12:105617168-105617169	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs79606516	chr12:105617180-105617181	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs191773266	chr12:105617264-105617265	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs60594465	chr12:105617271-105617272	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573508223	chr12:105617272-105617273	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536291733	chr12:105617277-105617278	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs529800349	chr12:105617294-105617295	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs59116450	chr12:105617299-105617300	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs183465608	chr12:105617300-105617301	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs573123999	chr12:105617353-105617354	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs543857813	chr12:105617368-105617369	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs78452014	chr12:105617382-105617383	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs558297521	chr12:105617396-105617397	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs547999410	chr12:105617436-105617437	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs146942914	chr12:105617437-105617438	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs562466825	chr12:105617466-105617467	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs113559530	chr12:105617487-105617488	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs114977842	chr12:105617489-105617490	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs533919146	chr12:105617494-105617495	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs187623753	chr12:105617500-105617501	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2273 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105546800-105625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105571400-105617800	Weak transcription	K562	blood
3	chr12:105578000-105623200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:105578200-105620000	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr12:105584000-105627000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:105590200-105620000	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:105590400-105618800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr12:105591000-105619400	Strong transcription	Primary T cells from cord blood	blood
9	chr12:105595000-105618800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:105595800-105616600	Strong transcription	Primary hematopoietic stem cells	blood
11	chr12:105596000-105617000	Strong transcription	Fetal Lung	lung
12	chr12:105596400-105621800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:105600800-105626800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:105601000-105619200	Weak transcription	GM12878-XiMat	blood
15	chr12:105604400-105618400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:105605600-105628400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:105606600-105616600	Strong transcription	Fetal Thymus	thymus
18	chr12:105606800-105617000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:105607200-105618600	Genic enhancers	Fetal Intestine Large	intestine
20	chr12:105608600-105618200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:105609000-105618600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:105609200-105620400	Genic enhancers	Fetal Intestine Small	intestine
23	chr12:105609200-105622400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:105609200-105626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:105609200-105628600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:105609400-105618600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:105609400-105619400	Strong transcription	Osteobl	bone
28	chr12:105610200-105618800	Strong transcription	Thymus	Thymus
29	chr12:105610800-105620000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:105611000-105620000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:105611000-105620200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:105611200-105620200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr12:105611200-105621200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:105611200-105628200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:105611400-105619600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:105611400-105621200	Weak transcription	Hela-S3	cervix
37	chr12:105611600-105621200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:105611600-105621600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:105611600-105626200	Weak transcription	Fetal Brain Male	brain
40	chr12:105611800-105621200	Weak transcription	Fetal Kidney	kidney
41	chr12:105612000-105616800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:105612000-105624800	Genic enhancers	NHDF-Ad	bronchial
43	chr12:105612200-105616400	Enhancers	Stomach Mucosa	stomach
44	chr12:105612200-105618600	Enhancers	Right Atrium	heart
45	chr12:105612600-105618800	Strong transcription	NHEK	skin
46	chr12:105612800-105618600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:105612800-105624200	Strong transcription	Fetal Stomach	stomach
48	chr12:105613000-105623600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr12:105613200-105618400	Strong transcription	Fetal Muscle Leg	muscle
50	chr12:105613200-105620000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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