Variant report

Variant	nsv3801
Chromosome Location	chr3:47201530-47246438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1104)
CpG islands
(count:857)
Chromatin interactive
region (count:34)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1104 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:47205658-47205920	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:47225033-47225090	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:47203930-47204531	K562	blood:	n/a	n/a
4	ARID3A	chr3:47206259-47206469	K562	blood:	n/a	n/a
5	ATF2	chr3:47217034-47217800	GM12878	blood:	n/a	n/a
6	ATF2	chr3:47206050-47206556	GM12878	blood:	n/a	n/a
7	ATF3	chr3:47205353-47206118	K562	blood:	n/a	chr3:47205626-47205640
8	BACH1	chr3:47204619-47204966	K562	blood:	n/a	n/a
9	BACH1	chr3:47205814-47205895	K562	blood:	n/a	n/a
10	BACH1	chr3:47205775-47206184	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr3:47227914-47228096	K562	blood:	n/a	n/a
12	BACH1	chr3:47204998-47205065	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL3	chr3:47205540-47206084	A549	lung:	n/a	chr3:47205768-47205781 chr3:47205884-47205897
14	BCLAF1	chr3:47205517-47205927	GM12878	blood:	n/a	chr3:47205768-47205781 chr3:47205884-47205897
15	BCLAF1	chr3:47204267-47205023	GM12878	blood:	n/a	chr3:47204624-47204633 chr3:47204976-47204989 chr3:47204781-47204794
16	BCLAF1	chr3:47203416-47203904	GM12878	blood:	n/a	chr3:47203679-47203688
17	BCLAF1	chr3:47205942-47206765	GM12878	blood:	n/a	n/a
18	BCLAF1	chr3:47217027-47217718	GM12878	blood:	n/a	chr3:47217406-47217415
19	BCLAF1	chr3:47204520-47205114	GM12878	blood:	n/a	chr3:47204624-47204633 chr3:47204976-47204989 chr3:47204781-47204794
20	BCLAF1	chr3:47205514-47205996	GM12878	blood:	n/a	chr3:47205768-47205781 chr3:47205884-47205897
21	BCLAF1	chr3:47204962-47205980	K562	blood:	n/a	chr3:47205108-47205117 chr3:47205416-47205429 chr3:47205161-47205174 chr3:47205449-47205462 chr3:47205768-47205781 chr3:47204976-47204989 chr3:47205884-47205897
22	BHLHE40	chr3:47205001-47206468	K562	blood:	n/a	chr3:47206092-47206108 chr3:47205158-47205174 chr3:47205304-47205320 chr3:47205443-47205459 chr3:47206100-47206116 chr3:47205150-47205166 chr3:47205312-47205328
23	BHLHE40	chr3:47204184-47204795	GM12878	blood:	n/a	n/a
24	BHLHE40	chr3:47204099-47204741	K562	blood:	n/a	n/a
25	BHLHE40	chr3:47217162-47217674	GM12878	blood:	n/a	n/a
26	BHLHE40	chr3:47205507-47206641	GM12878	blood:	n/a	chr3:47206092-47206108 chr3:47206100-47206116
27	BRCA1	chr3:47205687-47205865	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr3:47204677-47204890	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr3:47205024-47205030	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr3:47205629-47205829	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr3:47205758-47205768	HepG2	liver:	n/a	n/a
32	BRCA1	chr3:47206248-47206563	Hela-S3	cervix:	n/a	n/a
33	CBX3	chr3:47235780-47236020	K562	blood:	n/a	n/a
34	CBX3	chr3:47205467-47206585	K562	blood:	n/a	n/a
35	CBX3	chr3:47205565-47205976	K562	blood:	n/a	n/a
36	CBX3	chr3:47235716-47236287	K562	blood:	n/a	n/a
37	CCNT2	chr3:47204688-47206434	K562	blood:	n/a	chr3:47205817-47205826 chr3:47205083-47205092 chr3:47205468-47205477 chr3:47205473-47205482
38	CEBPB	chr3:47203849-47204545	K562	blood:	n/a	chr3:47204051-47204062
39	CEBPB	chr3:47203859-47204881	Hela-S3	cervix:	n/a	chr3:47204687-47204700 chr3:47204051-47204062
40	CEBPB	chr3:47223286-47223444	IMR90	lung:	n/a	n/a
41	CEBPB	chr3:47223164-47223497	K562	blood:	n/a	n/a
42	CEBPB	chr3:47235412-47235856	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr3:47223265-47223480	HepG2	liver:	n/a	n/a
44	CEBPB	chr3:47203889-47204246	HepG2	liver:	n/a	chr3:47204051-47204062
45	CEBPB	chr3:47205203-47205294	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr3:47205542-47206804	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr3:47223256-47223458	K562	blood:	n/a	n/a
48	CEBPB	chr3:47219528-47219682	K562	blood:	n/a	chr3:47219609-47219620
49	CEBPB	chr3:47205657-47205789	HepG2	liver:	n/a	n/a
50	CEBPB	chr3:47206579-47206841	IMR90	lung:	n/a	n/a

(count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:47204651-47204701	AG10803	skin:	n/a
2	chr3:47205627-47205677	AG09309	skin:	n/a
3	chr3:47204651-47204701	LNCaP	prostate:	n/a
4	chr3:47204651-47204701	AG10803	skin:	n/a
5	chr3:47205627-47205677	AG09309	skin:	n/a
6	chr3:47204651-47204701	LNCaP	prostate:	n/a
7	chr3:47205656-47205706	ECC-1	luminal epithelium:	n/a
8	chr3:47205434-47205484	HRPEpiC	eye:	n/a
9	chr3:47202493-47202543	HepG2	liver:	n/a
10	chr3:47205656-47205706	Caco-2	colon:	n/a
11	chr3:47204651-47204701	HRE	kidney:	n/a
12	chr3:47202493-47202543	Hepatocyte	liver:	n/a
13	chr3:47205788-47205838	MCF10A-Er-Src	breast:	n/a
14	chr3:47205630-47205680	LNCaP	prostate:	n/a
15	chr3:47204927-47204977	RPTEC	kidney:	n/a
16	chr3:47206647-47206697	SAEC	small airway:	n/a
17	chr3:47206301-47206351	GM19239	blood:	n/a
18	chr3:47205656-47205706	HepG2	liver:	n/a
19	chr3:47205664-47205714	ProgFib	skin:	n/a
20	chr3:47205434-47205484	NH-A	brain:	n/a
21	chr3:47204651-47204701	SKMC	muscle:	n/a
22	chr3:47206301-47206351	SKMC	muscle:	n/a
23	chr3:47205643-47205693	A549	lung:	n/a
24	chr3:47205858-47205908	SAEC	small airway:	n/a
25	chr3:47204927-47204977	HepG2	liver:	n/a
26	chr3:47204651-47204701	SK-N-SH	brain:	n/a
27	chr3:47205643-47205693	ovcar-3	ovarian:	n/a
28	chr3:47205858-47205908	AoSMC	blood vessel:	n/a
29	chr3:47210162-47210212	SAEC	small airway:	n/a
30	chr3:47204651-47204701	HAEpiC	amniotic membrane:	n/a
31	chr3:47205664-47205714	Hepatocyte	liver:	n/a
32	chr3:47210162-47210212	HCM	heart:	n/a
33	chr3:47205664-47205714	HRCEpiC	kidney:	n/a
34	chr3:47205630-47205680	GM06990	blood:	n/a
35	chr3:47202493-47202543	HRPEpiC	eye:	n/a
36	chr3:47205858-47205908	BJ	skin:	n/a
37	chr3:47205664-47205714	HepG2	liver:	n/a
38	chr3:47205858-47205908	MCF-7	breast:	n/a
39	chr3:47205434-47205484	BJ	skin:	n/a
40	chr3:47205788-47205838	NT2-D1	testis:	n/a
41	chr3:47205664-47205714	HPAEpiC	pulmonary alveolar:	n/a
42	chr3:47206647-47206697	BJ	skin:	n/a
43	chr3:47204927-47204977	HL-60	blood:	n/a
44	chr3:47205858-47205908	GM19239	blood:	n/a
45	chr3:47205664-47205714	HAEpiC	amniotic membrane:	n/a
46	chr3:47205656-47205706	AG04449	skin:	fetal
47	chr3:47205788-47205838	SK-N-SH_RA	brain:	n/a
48	chr3:47210162-47210212	HIPEpiC	eye:	n/a
49	chr3:47202493-47202543	HUVEC	blood vessel:	n/a
50	chr3:47206647-47206697	NHBE	bronchial:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47212127..47213926-chr3:47216166..47217763,2	K562	blood:
2	chr3:47047075..47049174-chr3:47204688..47207568,2	K562	blood:
3	chr3:47244351..47246647-chr3:47288782..47291421,2	K562	blood:
4	chr3:47175569..47177603-chr3:47199664..47202518,2	K562	blood:
5	chr3:47209847..47212241-chr3:47213273..47215317,2	K562	blood:
6	chr3:47212127..47213926-chr3:47216166..47217763,2	K562	blood:
7	chr3:47204839..47206673-chr3:47316671..47318992,2	K562	blood:
8	chr3:47204211..47206785-chr3:47421682..47423744,2	K562	blood:
9	chr3:47205606..47207421-chr3:47222256..47224382,2	K562	blood:
10	chr3:47206205..47208829-chr3:47228493..47230499,2	K562	blood:
11	chr3:47212127..47215555-chr3:47216166..47219089,5	K562	blood:
12	chr3:47203577..47205455-chr3:47421565..47423969,3	MCF-7	breast:
13	chr3:47206313..47209230-chr3:47234534..47237007,2	K562	blood:
14	chr3:47244578..47247467-chr3:47322927..47324918,2	MCF-7	breast:
15	chr3:47204166..47205955-chr3:47210547..47213493,2	MCF-7	breast:
16	chr3:47203222..47204974-chr3:47216567..47218199,2	K562	blood:
17	chr3:47215840..47217709-chr3:47242966..47244606,2	K562	blood:
18	chr3:47144386..47146568-chr3:47206115..47208943,2	K562	blood:
19	chr3:47203222..47204974-chr3:47216567..47218199,2	K562	blood:
20	chr3:47206313..47209230-chr3:47234534..47237007,2	K562	blood:
21	chr3:47212755..47215203-chr3:47233129..47236003,2	K562	blood:
22	chr3:47185004..47187148-chr3:47202667..47204488,3	K562	blood:
23	chr3:47212755..47215203-chr3:47233129..47236003,2	K562	blood:
24	chr3:47205609..47207145-chr3:47226489..47228107,2	K562	blood:
25	chr3:47216807..47218782-chr3:47220055..47222409,2	K562	blood:
26	chr3:47184823..47187568-chr3:47200664..47202534,2	K562	blood:
27	chr3:47212127..47215555-chr3:47216166..47219089,5	K562	blood:
28	chr3:47206205..47208829-chr3:47228493..47230499,2	K562	blood:
29	chr3:47209847..47212241-chr3:47213273..47215317,2	K562	blood:
30	chr3:47205324..47205884-chr5:39074182..39075163,2	Hela-S3	cervix:
31	chr3:47216807..47218782-chr3:47220055..47222409,2	K562	blood:
32	chr3:47206330..47207935-chr3:47269635..47272422,2	K562	blood:
33	chr3:47204122..47207133-chr3:47321636..47325818,4	K562	blood:
34	chr3:47215840..47217709-chr3:47242966..47244606,2	K562	blood:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL18-1	chr3:47205987-47206087	NONHSAT089479
2	lnc-KLHL18-1	chr3:47205987-47206087	ENSG00000227398
3	lnc-SETD2-1	chr3:47211228-47211657	NONHSAT089481
4	lnc-KLHL18-1	chr3:47210659-47210886	ENSG00000227398
5	lnc-KLHL18-1	chr3:47210139-47219924	NONHSAT089480
6	lnc-KLHL18-1	chr3:47210659-47210886	NONHSAT089479
7	lnc-KLHL18-6	chr3:47234969-47239512	NONHSAT089483
8	lnc-KLHL18-1	chr3:47210659-47211101	XLOC_002636
9	lnc-KLHL18-1	chr3:47210663-47210886	XLOC_002636
10	lnc-SETD2-1	chr3:47214038-47214531	NONHSAT089481
11	lnc-KLHL18-1	chr3:47205860-47206087	NONHSAT089478
12	lnc-KLHL18-1	chr3:47205720-47206087	XLOC_002636
13	lnc-SETD2-1	chr3:47210659-47210743	NONHSAT089481
14	lnc-KLHL18-1	chr3:47210659-47212289	NONHSAT089476
15	lnc-KLHL18-1	chr3:47205721-47206087	XLOC_002636
16	lnc-KLHL18-1	chr3:47206614-47206657	XLOC_002636
17	lnc-KLHL18-1	chr3:47205469-47206087	NONHSAT089476
18	lnc-KLHL18-1	chr3:47210659-47210886	ENSG00000227398.3
19	lnc-KLHL18-1	chr3:47210659-47210886	NONHSAT089478
20	lnc-KLHL18-1	chr3:47205987-47206087	ENSG00000227398.3
21	lnc-KLHL18-1	chr3:47217207-47217364	XLOC_002636

No data

Variant related genes	Relation type
KIF9-AS1	TF binding region
SETD2	TF binding region
KIF9-AS1	CpG island
SETD2	CpG island
ENSG00000114648	chromatin interactions
ENSG00000076201	chromatin interactions
ENSG00000088727	chromatin interactions
ENSG00000227398	chromatin interactions
ENSG00000160796	chromatin interactions
ENSG00000181555	chromatin interactions
ENSG00000260236	chromatin interactions
ENSG00000164327	chromatin interactions
FBXL5	miRNA target sites
MRPL37	miRNA target sites
FAM65C	miRNA target sites
KIAA1671	miRNA target sites
C2orf29	miRNA target sites

Extended variants
information (count: 1358 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1358 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374776372	chr3:47201590-47201591	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs527550634	chr3:47201600-47201601	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs187961819	chr3:47201627-47201628	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs572489576	chr3:47201637-47201638	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs78707366	chr3:47201748-47201749	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs145036041	chr3:47201752-47201753	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs369050603	chr3:47201783-47201784	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373396749	chr3:47201787-47201788	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs549456951	chr3:47201797-47201798	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs34890594	chr3:47201808-47201809	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs538859320	chr3:47201855-47201856	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs377576020	chr3:47201865-47201866	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs570915236	chr3:47201892-47201893	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs547941360	chr3:47201921-47201922	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539397418	chr3:47201934-47201935	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs62246448	chr3:47201956-47201957	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571782450	chr3:47201957-47201958	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs79479129	chr3:47201958-47201959	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs3036093	chr3:47201970-47201971	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs1874265	chr3:47201988-47201989	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs76408572	chr3:47202007-47202008	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs140460392	chr3:47202041-47202042	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs71619675	chr3:47202043-47202044	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs556298023	chr3:47202119-47202120	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs576500309	chr3:47202188-47202189	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs187247449	chr3:47202308-47202309	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs559099264	chr3:47202410-47202411	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs113909885	chr3:47202416-47202417	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs544893592	chr3:47202420-47202421	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs544061784	chr3:47202457-47202458	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs190523530	chr3:47202488-47202489	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs572279001	chr3:47202598-47202599	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs542510378	chr3:47202622-47202623	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs370538143	chr3:47202647-47202648	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs560591495	chr3:47202680-47202681	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs375756561	chr3:47202766-47202767	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs181738914	chr3:47202827-47202828	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs540064102	chr3:47202834-47202835	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs549318290	chr3:47202852-47202853	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs562164515	chr3:47202953-47202954	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs186979225	chr3:47202961-47202962	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs576028944	chr3:47202963-47202964	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs547708833	chr3:47203003-47203004	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs190219447	chr3:47203055-47203056	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs141997065	chr3:47203151-47203152	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs199660711	chr3:47203243-47203244	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs548889166	chr3:47203304-47203305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs182533681	chr3:47203318-47203319	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs537465979	chr3:47203328-47203329	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs558958400	chr3:47203424-47203425	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1040 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47166000-47204600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:47166600-47204200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:47167400-47202400	Weak transcription	HSMM	muscle
4	chr3:47183600-47202200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:47183800-47202200	Weak transcription	NHEK	skin
6	chr3:47183800-47203000	Weak transcription	Colonic Mucosa	Colon
7	chr3:47184600-47202200	Weak transcription	Esophagus	oesophagus
8	chr3:47188600-47202000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:47191200-47202800	Weak transcription	HMEC	breast
10	chr3:47192200-47202000	Weak transcription	Fetal Lung	lung
11	chr3:47194400-47203600	Weak transcription	NH-A	brain
12	chr3:47196400-47203600	Enhancers	Liver	Liver
13	chr3:47196600-47203600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:47197000-47203600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr3:47197000-47203600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:47197000-47203800	Enhancers	Primary B cells from peripheral blood	blood
17	chr3:47197000-47203800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:47197200-47203800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr3:47197200-47203800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr3:47197400-47204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:47197600-47202200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:47198000-47202800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:47198000-47203600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr3:47198200-47202400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:47198200-47202800	Enhancers	Primary B cells from cord blood	blood
26	chr3:47198200-47203600	Weak transcription	Fetal Kidney	kidney
27	chr3:47198200-47203600	Weak transcription	NHDF-Ad	bronchial
28	chr3:47198400-47201600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:47198400-47202200	Weak transcription	A549	lung
30	chr3:47198400-47204000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:47198800-47202200	Weak transcription	Pancreas	Pancrea
32	chr3:47198800-47202200	Weak transcription	Right Atrium	heart
33	chr3:47198800-47202200	Weak transcription	Right Ventricle	heart
34	chr3:47198800-47203600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr3:47198800-47204000	Weak transcription	Aorta	Aorta
36	chr3:47198800-47204200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:47198800-47204200	Weak transcription	Lung	lung
38	chr3:47199200-47203600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr3:47199400-47202200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:47199400-47203600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr3:47199600-47202600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr3:47199600-47203200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr3:47199800-47202200	Enhancers	Primary T cells from cord blood	blood
44	chr3:47199800-47202400	Enhancers	HepG2	liver
45	chr3:47199800-47202600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr3:47199800-47203000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:47199800-47203400	Enhancers	Adipose Nuclei	Adipose
48	chr3:47199800-47203600	Enhancers	Thymus	Thymus
49	chr3:47199800-47204000	Enhancers	Brain Substantia Nigra	brain
50	chr3:47199800-47204000	Enhancers	Small Intestine	intestine

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