Variant report

Variant	nsv527450
Chromosome Location	chr12:122481290-122676531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4833)
CpG islands
(count:3849)
Chromatin interactive
region (count:294)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

(count:4833 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:122596682-122596996	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:122501027-122501156	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:122501897-122502342	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:122501831-122502243	K562	blood:	n/a	n/a
5	ARID3A	chr12:122520761-122521335	K562	blood:	n/a	n/a
6	ARID3A	chr12:122607971-122607992	K562	blood:	n/a	n/a
7	ARID3A	chr12:122640323-122640523	K562	blood:	n/a	n/a
8	ARID3A	chr12:122516110-122516190	K562	blood:	n/a	n/a
9	ARID3A	chr12:122661872-122662188	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:122582184-122582975	K562	blood:	n/a	n/a
11	ARID3A	chr12:122598886-122598891	K562	blood:	n/a	n/a
12	ARID3A	chr12:122510629-122510821	K562	blood:	n/a	n/a
13	ATF1	chr12:122501866-122502303	K562	blood:	n/a	n/a
14	ATF1	chr12:122602609-122602796	K562	blood:	n/a	n/a
15	ATF1	chr12:122516354-122516762	K562	blood:	n/a	n/a
16	ATF1	chr12:122640374-122640676	K562	blood:	n/a	n/a
17	ATF1	chr12:122520749-122521244	K562	blood:	n/a	n/a
18	ATF1	chr12:122582439-122583099	K562	blood:	n/a	n/a
19	ATF1	chr12:122675465-122675808	K562	blood:	n/a	n/a
20	ATF2	chr12:122519551-122520111	GM12878	blood:	n/a	n/a
21	ATF2	chr12:122501852-122502410	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr12:122516215-122516651	GM12878	blood:	n/a	n/a
23	ATF2	chr12:122520885-122521307	GM12878	blood:	n/a	n/a
24	ATF2	chr12:122492204-122492525	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr12:122650795-122651922	GM12878	blood:	n/a	n/a
26	ATF2	chr12:122516359-122516643	GM12878	blood:	n/a	n/a
27	ATF2	chr12:122675386-122675823	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr12:122650854-122651884	GM12878	blood:	n/a	n/a
29	ATF3	chr12:122502105-122502265	GM12878	blood:	n/a	n/a
30	ATF3	chr12:122501974-122502417	K562	blood:	n/a	n/a
31	ATF3	chr12:122510311-122510950	A549	lung:	n/a	n/a
32	ATF3	chr12:122503179-122503572	K562	blood:	n/a	n/a
33	ATF3	chr12:122501985-122502356	K562	blood:	n/a	n/a
34	ATF3	chr12:122675360-122675826	A549	lung:	n/a	n/a
35	ATF3	chr12:122501909-122502326	GM12878	blood:	n/a	n/a
36	ATF3	chr12:122582278-122582784	K562	blood:	n/a	n/a
37	ATF3	chr12:122517299-122518036	A549	lung:	n/a	chr12:122517771-122517780
38	ATF3	chr12:122487709-122488040	K562	blood:	n/a	n/a
39	ATF3	chr12:122650847-122651144	GM12878	blood:	n/a	n/a
40	BACH1	chr12:122517063-122517087	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr12:122518253-122518445	K562	blood:	n/a	n/a
42	BACH1	chr12:122582491-122582528	K562	blood:	n/a	n/a
43	BACH1	chr12:122492543-122492581	K562	blood:	n/a	n/a
44	BACH1	chr12:122516044-122516698	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr12:122516197-122516477	K562	blood:	n/a	n/a
46	BACH1	chr12:122621760-122621892	H1-hESC	embryonic stem cell:	n/a	n/a
47	BACH1	chr12:122615627-122615759	H1-hESC	embryonic stem cell:	n/a	n/a
48	BATF	chr12:122650852-122651587	GM12878	blood:	n/a	chr12:122651398-122651409 chr12:122651399-122651409
49	BATF	chr12:122519079-122519431	GM12878	blood:	n/a	chr12:122519206-122519215
50	BATF	chr12:122518359-122518650	GM12878	blood:	n/a	n/a

(count:3849 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122666672-122666722	IMR90	lung:	fetal
2	chr12:122633036-122633086	GM12892	blood:	n/a
3	chr12:122515332-122515382	RPTEC	kidney:	n/a
4	chr12:122499348-122499398	HUVEC	blood vessel:	n/a
5	chr12:122666575-122666625	HL-60	blood:	n/a
6	chr12:122667438-122667488	NH-A	brain:	n/a
7	chr12:122666672-122666722	IMR90	lung:	fetal
8	chr12:122633036-122633086	GM12892	blood:	n/a
9	chr12:122515332-122515382	RPTEC	kidney:	n/a
10	chr12:122499348-122499398	HUVEC	blood vessel:	n/a
11	chr12:122666575-122666625	HL-60	blood:	n/a
12	chr12:122667438-122667488	NH-A	brain:	n/a
13	chr12:122631458-122631508	NB4	blood:	n/a
14	chr12:122516220-122516270	SK-N-MC	brain:	n/a
15	chr12:122628115-122628165	NH-A	brain:	n/a
16	chr12:122670293-122670343	LNCaP	prostate:	n/a
17	chr12:122618040-122618090	AoSMC	blood vessel:	n/a
18	chr12:122617908-122617958	HCPEpiC	choroid plexus:	n/a
19	chr12:122652224-122652274	NT2-D1	testis:	n/a
20	chr12:122651715-122651765	RPTEC	kidney:	n/a
21	chr12:122657668-122657718	Caco-2	colon:	n/a
22	chr12:122502170-122502220	HCM	heart:	n/a
23	chr12:122489545-122489595	BE2_C	brain:	n/a
24	chr12:122667438-122667488	A549	lung:	n/a
25	chr12:122515332-122515382	CMK	blood:	n/a
26	chr12:122517184-122517234	HCM	heart:	n/a
27	chr12:122489545-122489595	HEK293	kidney:	embryo
28	chr12:122652224-122652274	GM19239	blood:	n/a
29	chr12:122631292-122631342	LNCaP	prostate:	n/a
30	chr12:122670293-122670343	HepG2	liver:	n/a
31	chr12:122618040-122618090	GM12891	blood:	n/a
32	chr12:122666660-122666710	PANC-1	pancreas:	n/a
33	chr12:122631292-122631342	GM12891	blood:	n/a
34	chr12:122614585-122614635	HL-60	blood:	n/a
35	chr12:122651715-122651765	ovcar-3	ovarian:	n/a
36	chr12:122659211-122659261	NT2-D1	testis:	n/a
37	chr12:122666660-122666710	HIPEpiC	eye:	n/a
38	chr12:122669186-122669236	NHBE	bronchial:	n/a
39	chr12:122489545-122489595	H1-hESC	embryonic stem cell:	embryo
40	chr12:122658897-122658947	GM12891	blood:	n/a
41	chr12:122656878-122656928	NT2-D1	testis:	n/a
42	chr12:122499638-122499688	ProgFib	skin:	n/a
43	chr12:122658311-122658361	BJ	skin:	n/a
44	chr12:122628115-122628165	PrEC	prostate:	n/a
45	chr12:122517184-122517234	BJ	skin:	n/a
46	chr12:122659211-122659261	Hela-S3	cervix:	n/a
47	chr12:122498111-122498161	SAEC	small airway:	n/a
48	chr12:122651762-122651812	ECC-1	luminal epithelium:	n/a
49	chr12:122515332-122515382	SK-N-SH	brain:	n/a
50	chr12:122498111-122498161	AG09309	skin:	n/a

(count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr12:122501321..122503552-chr12:122505833..122508072,2	K562	blood:
2	chr12:122275590..122277835-chr12:122486221..122487866,2	K562	blood:
3	chr12:122661637..122663499-chr12:122674584..122677417,2	K562	blood:
4	chr12:122501705..122502482-chr12:122601067..122601727,2	MCF-7	breast:
5	chr12:122325518..122327854-chr12:122516363..122518486,3	K562	blood:
6	chr12:122491927..122492922-chr12:122675234..122675854,3	MCF-7	breast:
7	chr12:122648387..122651119-chr12:122655158..122657208,2	K562	blood:
8	chr12:122520632..122523155-chr12:122581456..122583885,2	MCF-7	breast:
9	chr12:122583778..122586535-chr12:122588771..122590878,2	MCF-7	breast:
10	chr12:122491907..122493455-chr12:122607305..122608643,21	MCF-7	breast:
11	chr12:122493521..122495368-chr12:122514884..122517753,2	MCF-7	breast:
12	chr12:122524828..122528659-chr12:122528989..122531257,4	K562	blood:
13	chr12:122492257..122492931-chr12:122607541..122608235,2	MCF-7	breast:
14	chr12:122492460..122495753-chr12:122599733..122603330,4	MCF-7	breast:
15	chr12:122524828..122528659-chr12:122528989..122531257,4	K562	blood:
16	chr12:122467382..122468928-chr12:122633431..122635226,2	K562	blood:
17	chr1:149857369..149859251-chr12:122516305..122519286,2	MCF-7	breast:
18	chr12:122595198..122597240-chr12:122599458..122602130,3	MCF-7	breast:
19	chr12:122500507..122502727-chr12:122605143..122608025,2	MCF-7	breast:
20	chr12:122523092..122527603-chr12:122583514..122589002,5	K562	blood:
21	chr12:122491967..122493498-chr12:122607388..122608388,14	K562	blood:
22	chr12:122459405..122462233-chr12:122501246..122503627,3	MCF-7	breast:
23	chr12:122622146..122623768-chr12:122624080..122626451,2	K562	blood:
24	chr12:122593313..122595927-chr12:122601450..122604271,2	K562	blood:
25	chr12:122655739..122657400-chr12:122697798..122700645,2	K562	blood:
26	chr12:122651893..122653616-chr12:122654235..122656817,2	MCF-7	breast:
27	chr12:122467922..122470622-chr12:122594628..122596411,2	MCF-7	breast:
28	chr12:122503010..122504753-chr12:122599656..122601738,3	K562	blood:
29	chr12:122582916..122584991-chr12:122600194..122603011,2	MCF-7	breast:
30	chr12:122492379..122495152-chr12:122604029..122610434,5	MCF-7	breast:
31	chr12:122500470..122502561-chr12:122582788..122584844,4	K562	blood:
32	chr12:122471389..122473549-chr12:122630126..122632348,2	K562	blood:
33	chr12:122523795..122525451-chr12:122579621..122581608,2	K562	blood:
34	chr12:122514781..122518776-chr12:122593485..122598871,7	MCF-7	breast:
35	chr12:122496130..122500092-chr12:122599945..122602978,3	K562	blood:
36	chr12:122611175..122611942-chr12:122675192..122675995,2	MCF-7	breast:
37	chr12:122586163..122588712-chr12:122590906..122593139,2	MCF-7	breast:
38	chr12:122237535..122239175-chr12:122615954..122617703,2	MCF-7	breast:
39	chr12:122492842..122494404-chr12:122622971..122625233,2	K562	blood:
40	chr12:122515684..122518193-chr12:122579719..122583506,5	K562	blood:
41	chr12:122607579..122610037-chr12:122611336..122613459,2	MCF-7	breast:
42	chr12:122513440..122515141-chr12:122630792..122633616,2	K562	blood:
43	chr12:122528054..122532110-chr12:122579967..122583138,4	K562	blood:
44	chr12:122492209..122492850-chr12:122621521..122622107,2	MCF-7	breast:
45	chr12:122494567..122497207-chr12:122499129..122503121,3	MCF-7	breast:
46	chr12:122601548..122603416-chr12:122604759..122607600,2	K562	blood:
47	chr12:122527799..122531639-chr12:122580014..122584327,5	K562	blood:
48	chr12:122496130..122500092-chr12:122599945..122602978,3	K562	blood:
49	chr12:122584343..122586345-chr12:122592314..122594836,2	K562	blood:
50	chr12:122502325..122504629-chr12:122884627..122886356,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL7A-1	chr12:122502045-122502339	ENSG00000256546
2	lnc-BCL7A-1	chr12:122506195-122506464	ENSG00000256546
3	lnc-BCL7A-1	chr12:122502456-122502588	ENSG00000256546
4	lnc-BCL7A-1	chr12:122501255-122501437	ENSG00000256546
5	lnc-BCL7A-1	chr12:122505932-122506097	ENSG00000256546
6	lnc-MLXIP-1	chr12:122510024-122511063	ENSG00000251645
7	lnc-MLXIP-1	chr12:122513147-122515640	NONHSAT031490
8	lnc-BCL7A-1	chr12:122506195-122506527	NONHSAT031487
9	lnc-BCL7A-1	chr12:122502456-122502564	ENSG00000256546
10	lnc-BCL7A-1	chr12:122505934-122506097	NONHSAT031487
11	lnc-BCL7A-1	chr12:122503162-122503728	ENSG00000256546
12	lnc-MLXIP-1	chr12:122512858-122514686	ENSG00000251645
13	lnc-BCL7A-1	chr12:122506195-122506522	ENSG00000256546
14	lnc-BCL7A-1	chr12:122505934-122506097	ENSG00000256546
15	lnc-BCL7A-1	chr12:122501212-122501437	ENSG00000256546
16	lnc-BCL7A-1	chr12:122502456-122502590	NONHSAT031487
17	lnc-BCL7A-1	chr12:122502263-122502588	ENSG00000256546

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	MLXIP	hsa-miR-98-5p	chr12:122628348-122628372
2	BCL7A	hsa-let-7b-5p	chr12:122498768-122498774
3	BCL7A	hsa-miR-24-3p	chr12:122498176-122498198
4	BCL7A	hsa-miR-29a-3p	chr12:122498034-122498040
5	MLXIP	hsa-miR-98-5p	chr12:122628365-122628371
6	MLXIP	hsa-miR-20a-5p	chr12:122627641-122627663

Variant related genes	Relation type
LRRC43	TF binding region
IL31	TF binding region
MLXIP	TF binding region
ENSG00000256546	TF binding region
LRRC43	CpG island
IL31	CpG island
MLXIP	CpG island
ENSG00000256546	CpG island
ENSG00000176383	chromatin interactions
ENSG00000158113	chromatin interactions
ENSG00000255856	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000123213	chromatin interactions
ENSG00000110801	chromatin interactions
ENSG00000057663	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000158023	chromatin interactions
ENSG00000256950	chromatin interactions
ENSG00000159596	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000256546	chromatin interactions
ENSG00000175727	chromatin interactions
ENSG00000197860	chromatin interactions
ENSG00000188735	chromatin interactions
ENSG00000110987	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000159592	chromatin interactions
ENSG00000070404	chromatin interactions
ENSG00000184047	chromatin interactions
ABL1	miRNA target sites
PAFAH1B2	miRNA target sites

Extended variants
information (count: 5934 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:5934 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12827036	chr12:122481290-122481291	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370942089	chr12:122481294-122481295	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs202147036	chr12:122481305-122481306	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs72499382	chr12:122481313-122481314	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184790396	chr12:122481360-122481361	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571361295	chr12:122481362-122481363	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538758436	chr12:122481387-122481388	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371848621	chr12:122481395-122481396	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188029414	chr12:122481396-122481397	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569181170	chr12:122481416-122481417	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536683470	chr12:122481445-122481446	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554955454	chr12:122481476-122481477	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573625435	chr12:122481481-122481482	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534341622	chr12:122481484-122481485	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559202552	chr12:122481488-122481489	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139843860	chr12:122481539-122481540	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544795396	chr12:122481543-122481544	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113470431	chr12:122481570-122481571	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs143182785	chr12:122481605-122481606	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542650509	chr12:122481625-122481626	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368594297	chr12:122481630-122481631	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528375495	chr12:122481636-122481637	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546349546	chr12:122481637-122481638	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562966293	chr12:122481639-122481640	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111943468	chr12:122481641-122481642	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs58278577	chr12:122481655-122481656	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544076987	chr12:122481679-122481680	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146174760	chr12:122481697-122481698	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569373648	chr12:122481698-122481699	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536247546	chr12:122481721-122481722	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs180907941	chr12:122481745-122481746	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371657805	chr12:122481752-122481753	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574303670	chr12:122481770-122481771	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371454940	chr12:122481785-122481786	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs534509232	chr12:122481789-122481790	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs144413405	chr12:122481793-122481794	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375961060	chr12:122481794-122481795	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528911935	chr12:122481817-122481818	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs184713755	chr12:122481823-122481824	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200170333	chr12:122481858-122481859	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs151108243	chr12:122481862-122481863	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141114357	chr12:122481865-122481866	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs34821485	chr12:122481879-122481880	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538468428	chr12:122481882-122481883	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372943822	chr12:122481883-122481884	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375775431	chr12:122481889-122481890	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144915314	chr12:122481895-122481896	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111620654	chr12:122481898-122481899	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76573037	chr12:122481904-122481905	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs145823862	chr12:122481905-122481906	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6032 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122461600-122492400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:122462000-122492400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:122462200-122489000	Weak transcription	HUVEC	blood vessel
4	chr12:122462400-122481800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:122462400-122489000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:122462400-122490400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:122462400-122492200	Weak transcription	Stomach Mucosa	stomach
8	chr12:122462400-122500000	Weak transcription	Hela-S3	cervix
9	chr12:122466200-122500800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:122466400-122489000	Weak transcription	NHLF	lung
11	chr12:122466800-122490200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:122467800-122488800	Weak transcription	Right Atrium	heart
13	chr12:122467800-122500000	Strong transcription	Thymus	Thymus
14	chr12:122467800-122500200	Strong transcription	Dnd41	blood
15	chr12:122468000-122489200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:122468200-122492800	Weak transcription	NHDF-Ad	bronchial
17	chr12:122468400-122486000	Weak transcription	NH-A	brain
18	chr12:122468400-122489000	Strong transcription	Fetal Stomach	stomach
19	chr12:122468400-122489000	Weak transcription	Psoas Muscle	Psoas
20	chr12:122469800-122481800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:122470000-122482600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:122470000-122488800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:122470000-122492400	Strong transcription	Fetal Thymus	thymus
24	chr12:122470000-122492400	Weak transcription	K562	blood
25	chr12:122470600-122488800	Weak transcription	Fetal Heart	heart
26	chr12:122470600-122489800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:122471000-122483000	Weak transcription	GM12878-XiMat	blood
28	chr12:122471600-122481800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:122472000-122507200	Weak transcription	Fetal Brain Male	brain
30	chr12:122472400-122481800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:122472400-122484800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:122472400-122489600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:122472600-122481800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:122472600-122486000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:122472800-122488800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr12:122472800-122488800	Strong transcription	Fetal Muscle Leg	muscle
37	chr12:122472800-122489600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:122473000-122488200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr12:122473000-122489600	Strong transcription	Fetal Brain Female	brain
40	chr12:122473200-122486400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:122473600-122492800	Weak transcription	Esophagus	oesophagus
42	chr12:122473800-122484800	Strong transcription	NHEK	skin
43	chr12:122474000-122496800	Weak transcription	HMEC	breast
44	chr12:122474200-122481600	Weak transcription	Right Ventricle	heart
45	chr12:122474400-122481400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:122474400-122483400	Weak transcription	HSMM	muscle
47	chr12:122474400-122487600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:122474400-122492200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr12:122474400-122496600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:122474400-122500600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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