Variant report

Variant	rs3739291
Chromosome Location	chr8:124194968-124194969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr8:124194660-124195021	K562	blood:	n/a	n/a
2	MAX	chr8:124194081-124195124	ECC-1	luminal epithelium:	n/a	chr8:124194240-124194249 chr8:124194199-124194212 chr8:124194202-124194211 chr8:124194200-124194210 chr8:124194199-124194212 chr8:124194239-124194250 chr8:124194201-124194211 chr8:124194199-124194212 chr8:124194201-124194210 chr8:124194236-124194251 chr8:124194199-124194212 chr8:124194201-124194208 chr8:124194200-124194211 chr8:124194200-124194209 chr8:124194239-124194249 chr8:124194197-124194212 chr8:124194200-124194211 chr8:124194241-124194248 chr8:124194199-124194214
3	GATA3	chr8:124194202-124195107	MCF-7	breast:	n/a	chr8:124194598-124194605 chr8:124194876-124194884 chr8:124194591-124194612 chr8:124194598-124194607 chr8:124194598-124194605 chr8:124194875-124194884 chr8:124194597-124194607 chr8:124194598-124194605 chr8:124194594-124194610 chr8:124194866-124194883
4	MAX	chr8:124193885-124195357	MCF-7	breast:	n/a	chr8:124194240-124194249 chr8:124194199-124194212 chr8:124194202-124194211 chr8:124194200-124194210 chr8:124194199-124194212 chr8:124194239-124194250 chr8:124194201-124194211 chr8:124194199-124194212 chr8:124194201-124194210 chr8:124194236-124194251 chr8:124194199-124194212 chr8:124194201-124194208 chr8:124194200-124194211 chr8:124194200-124194209 chr8:124194239-124194249 chr8:124194197-124194212 chr8:124194200-124194211 chr8:124194241-124194248 chr8:124194199-124194214
5	EP300	chr8:124194705-124195055	K562	blood:	n/a	chr8:124194778-124194794 chr8:124194966-124194982
6	MAX	chr8:124194576-124195169	K562	blood:	n/a	n/a
7	SMARCC1	chr8:124193611-124195830	Hela-S3	cervix:	n/a	n/a
8	SMARCB1	chr8:124193728-124195828	Hela-S3	cervix:	n/a	n/a
9	JUN	chr8:124193193-124195893	K562	blood:	n/a	n/a
10	POLR2A	chr8:124194764-124195874	K562	blood:	n/a	n/a
11	BHLHE40	chr8:124193972-124195412	K562	blood:	n/a	n/a
12	MYC	chr8:124193721-124195026	MCF10A-Er-Src	breast:	n/a	chr8:124194240-124194249 chr8:124194199-124194212 chr8:124194202-124194211 chr8:124194200-124194210 chr8:124194199-124194212 chr8:124194239-124194250 chr8:124194201-124194211 chr8:124194199-124194212 chr8:124194201-124194210 chr8:124194236-124194251 chr8:124194199-124194212 chr8:124194201-124194208 chr8:124194200-124194211 chr8:124194200-124194209 chr8:124194239-124194249 chr8:124194197-124194212 chr8:124194200-124194211 chr8:124194241-124194248 chr8:124194199-124194214
13	STAT3	chr8:124194578-124194973	Hela-S3	cervix:	n/a	n/a
14	ZNF143	chr8:124194558-124195255	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr8:124194642-124195879	MCF10A-Er-Src	breast:	n/a	n/a
16	FOSL1	chr8:124194735-124194995	K562	blood:	n/a	n/a
17	PML	chr8:124194456-124195571	K562	blood:	n/a	n/a
18	TAF1	chr8:124194555-124195102	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr8:124193710-124195780	K562	blood:	n/a	n/a
20	POLR2A	chr8:124194592-124195481	MCF10A-Er-Src	breast:	n/a	n/a
21	TAF7	chr8:124194790-124194980	K562	blood:	n/a	n/a
22	CBX3	chr8:124193372-124195852	K562	blood:	n/a	n/a
23	CEBPB	chr8:124194039-124195268	MCF-7	breast:	n/a	n/a
24	ELF1	chr8:124194721-124195504	K562	blood:	n/a	chr8:124195121-124195134
25	SMC3	chr8:124194249-124195584	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr8:124194312-124195811	Hela-S3	cervix:	n/a	n/a
27	RCOR1	chr8:124193583-124195702	K562	blood:	n/a	n/a
28	ELK1	chr8:124194723-124195248	K562	blood:	n/a	n/a
29	GATA1	chr8:124194693-124195078	PBDEFetal	blood:	n/a	chr8:124194875-124194884 chr8:124194866-124194883
30	MYC	chr8:124193705-124195821	K562	blood:	n/a	chr8:124194240-124194249 chr8:124194199-124194212 chr8:124194202-124194211 chr8:124194200-124194210 chr8:124194199-124194212 chr8:124195640-124195650 chr8:124194239-124194250 chr8:124194201-124194211 chr8:124194199-124194212 chr8:124194201-124194210 chr8:124194236-124194251 chr8:124194199-124194212 chr8:124194201-124194208 chr8:124194200-124194211 chr8:124194200-124194209 chr8:124194239-124194249 chr8:124194197-124194212 chr8:124194200-124194211 chr8:124194241-124194248 chr8:124194199-124194214
31	CEBPB	chr8:124194496-124194997	ECC-1	luminal epithelium:	n/a	n/a
32	USF2	chr8:124193887-124195055	Hela-S3	cervix:	n/a	n/a
33	MAX	chr8:124193356-124195458	Hela-S3	cervix:	n/a	chr8:124194240-124194249 chr8:124194199-124194212 chr8:124194202-124194211 chr8:124194200-124194210 chr8:124194199-124194212 chr8:124194239-124194250 chr8:124194201-124194211 chr8:124194199-124194212 chr8:124194201-124194210 chr8:124194236-124194251 chr8:124194199-124194212 chr8:124194201-124194208 chr8:124194200-124194211 chr8:124194200-124194209 chr8:124194239-124194249 chr8:124194197-124194212 chr8:124194200-124194211 chr8:124194241-124194248 chr8:124194199-124194214
34	HMGN3	chr8:124194036-124195835	K562	blood:	n/a	n/a
35	TBL1XR1	chr8:124194519-124195874	K562	blood:	n/a	n/a
36	MAZ	chr8:124194114-124195783	Hela-S3	cervix:	n/a	chr8:124194240-124194249 chr8:124194199-124194212 chr8:124194202-124194211 chr8:124194200-124194210 chr8:124194199-124194212 chr8:124195640-124195650 chr8:124194239-124194250 chr8:124194201-124194211 chr8:124194199-124194212 chr8:124194201-124194210 chr8:124194236-124194251 chr8:124194199-124194212 chr8:124194201-124194208 chr8:124194200-124194211 chr8:124194200-124194209 chr8:124194239-124194249 chr8:124194197-124194212 chr8:124194200-124194211 chr8:124194241-124194248 chr8:124194199-124194214
37	ATF3	chr8:124194665-124195030	K562	blood:	n/a	n/a
38	TRIM28	chr8:124194433-124195217	K562	blood:	n/a	n/a
39	ZNF143	chr8:124194705-124195093	K562	blood:	n/a	n/a
40	RAD21	chr8:124194085-124195145	MCF-7	breast:	n/a	n/a
41	SMC3	chr8:124194828-124195028	K562	blood:	n/a	n/a
42	SMARCA4	chr8:124194615-124195080	K562	blood:	n/a	n/a
43	STAT3	chr8:124194596-124195118	MCF10A-Er-Src	breast:	n/a	n/a
44	MXI1	chr8:124194032-124195701	Hela-S3	cervix:	n/a	chr8:124194202-124194211 chr8:124194860-124194869 chr8:124194239-124194248
45	TAF1	chr8:124194642-124195250	K562	blood:	n/a	n/a
46	NFIC	chr8:124194376-124195176	ECC-1	luminal epithelium:	n/a	n/a
47	FOSL1	chr8:124194600-124195077	K562	blood:	n/a	n/a
48	RFX5	chr8:124194205-124195304	Hela-S3	cervix:	n/a	n/a
49	TCF12	chr8:124194185-124195024	ECC-1	luminal epithelium:	n/a	chr8:124194859-124194869
50	E2F4	chr8:124194643-124195778	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:124194935-124194985	AG09309	skin:	n/a
2	chr8:124194965-124195015	ProgFib	skin:	n/a
3	chr8:124194935-124194985	Caco-2	colon:	n/a
4	chr8:124194965-124195015	LNCaP	prostate:	n/a
5	chr8:124194965-124195015	SAEC	small airway:	n/a
6	chr8:124194935-124194985	SK-N-MC	brain:	n/a
7	chr8:124194935-124194985	BJ	skin:	n/a
8	chr8:124194965-124195015	SKMC	muscle:	n/a
9	chr8:124194935-124194985	AG10803	skin:	n/a
10	chr8:124194965-124195015	HRE	kidney:	n/a
11	chr8:124194935-124194985	LNCaP	prostate:	n/a
12	chr8:124194965-124195015	RPTEC	kidney:	n/a
13	chr8:124194935-124194985	AG04449	skin:	fetal
14	chr8:124194935-124194985	K562	blood:	n/a
15	chr8:124194935-124194985	HNPCEpiC	eye:	n/a
16	chr8:124194935-124194985	AoSMC	blood vessel:	n/a
17	chr8:124194935-124194985	T-47D	breast:	n/a
18	chr8:124194935-124194985	HAEpiC	amniotic membrane:	n/a
19	chr8:124194965-124195015	BE2_C	brain:	n/a
20	chr8:124194965-124195015	HUVEC	blood vessel:	n/a
21	chr8:124194965-124195015	ECC-1	luminal epithelium:	n/a
22	chr8:124194935-124194985	IMR90	lung:	fetal
23	chr8:124194935-124194985	HCM	heart:	n/a
24	chr8:124194935-124194985	SK-N-SH	brain:	n/a
25	chr8:124194965-124195015	HCPEpiC	choroid plexus:	n/a
26	chr8:124194935-124194985	HCT-116	colon:	n/a
27	chr8:124194965-124195015	AG04449	skin:	fetal
28	chr8:124194965-124195015	SK-N-SH	brain:	n/a
29	chr8:124194965-124195015	HCM	heart:	n/a
30	chr8:124194965-124195015	HEK293	kidney:	embryo
31	chr8:124194935-124194985	HepG2	liver:	n/a
32	chr8:124194965-124195015	NH-A	brain:	n/a
33	chr8:124194935-124194985	HEEpiC	esophagus:	n/a
34	chr8:124194965-124195015	AoSMC	blood vessel:	n/a
35	chr8:124194965-124195015	HNPCEpiC	eye:	n/a
36	chr8:124194935-124194985	HL-60	blood:	n/a
37	chr8:124194965-124195015	H1-hESC	embryonic stem cell:	embryo
38	chr8:124194935-124194985	HCF	heart:	n/a
39	chr8:124194935-124194985	ovcar-3	ovarian:	n/a
40	chr8:124194965-124195015	PFSK-1	brain:	n/a
41	chr8:124194935-124194985	SKMC	muscle:	n/a
42	chr8:124194935-124194985	HPAEpiC	pulmonary alveolar:	n/a
43	chr8:124194965-124195015	PANC-1	pancreas:	n/a
44	chr8:124194935-124194985	HRPEpiC	eye:	n/a
45	chr8:124194965-124195015	AG04450	lung:	fetal
46	chr8:124194965-124195015	PrEC	prostate:	n/a
47	chr8:124194965-124195015	Caco-2	colon:	n/a
48	chr8:124194935-124194985	AG04450	lung:	fetal
49	chr8:124194965-124195015	HEEpiC	esophagus:	n/a
50	chr8:124194965-124195015	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124194480..124197339-chr8:124228010..124229599,2	MCF-7	breast:
2	chr8:124192727..124195343-chr8:124286448..124288328,2	MCF-7	breast:
3	chr8:124193270..124195385-chr8:124214799..124217849,3	MCF-7	breast:
4	chr8:124193513..124196464-chr8:124251453..124254770,3	MCF-7	breast:
5	chr8:124052976..124054549-chr8:124192727..124195649,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-539E17.5.1-1	chr8:124194767-124195028	ENSG00000253258.1

Variant related genes	Relation type
FAM83A	TF binding region
ENSG00000221461	TF binding region
ENSG00000221461	CpG island
FAM83A	CpG island
ENSG00000165156	Chromatin interaction
ENSG00000136986	Chromatin interaction
ENSG00000156787	Chromatin interaction
ENSG00000189376	Chromatin interaction
ENSG00000266324	Chromatin interaction
ENSG00000204949	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10096018	0.88[ASN][1000 genomes]
rs11780863	0.98[ASN][1000 genomes]
rs13248086	1.00[YRI][hapmap]
rs1563015	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs1563016	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs1563017	0.87[ASN][1000 genomes]
rs1670171	0.81[CHB][hapmap]
rs1670173	1.00[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs1670174	0.82[ASN][1000 genomes]
rs1670178	1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs1670188	0.86[CHB][hapmap];0.82[CHD][hapmap];0.86[MKK][hapmap]
rs1670189	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs1713738	1.00[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs17322971	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs17323019	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs17375962	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs17376270	1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.86[MKK][hapmap];0.87[ASN][1000 genomes]
rs17376305	1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.89[MKK][hapmap];0.87[ASN][1000 genomes]
rs2385072	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs28616192	0.87[ASN][1000 genomes]
rs3107193	1.00[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs3107194	1.00[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs4300008	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs55633424	0.87[ASN][1000 genomes]
rs55720148	0.87[ASN][1000 genomes]
rs56069069	0.87[ASN][1000 genomes]
rs62521817	0.87[ASN][1000 genomes]
rs62521818	0.87[ASN][1000 genomes]
rs62521819	0.87[ASN][1000 genomes]
rs62521820	0.87[ASN][1000 genomes]
rs62521821	0.87[ASN][1000 genomes]
rs62521822	0.88[ASN][1000 genomes]
rs62521823	0.88[ASN][1000 genomes]
rs62521842	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62521844	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6987091	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs6987128	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs6987216	1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.89[MKK][hapmap];0.87[ASN][1000 genomes]
rs7008277	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs7008474	1.00[YRI][hapmap]
rs7011195	1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.89[MKK][hapmap];0.87[ASN][1000 genomes]
rs7011341	0.85[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs7813708	0.94[MKK][hapmap];1.00[YRI][hapmap]
rs7822076	1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs7831175	0.88[ASN][1000 genomes]
rs896681	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs9643179	0.93[CHB][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3739291	C8orf76	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124193200-124195800	Enhancers	Placenta	Placenta
2	chr8:124193400-124195000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:124193400-124241200	Weak transcription	Right Atrium	heart
4	chr8:124193600-124195000	Bivalent Enhancer	HepG2	liver
5	chr8:124193800-124195400	Enhancers	Primary hematopoietic stem cells	blood
6	chr8:124193800-124195600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:124194000-124195000	Enhancers	Colonic Mucosa	Colon
8	chr8:124194000-124195200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:124194000-124195400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:124194000-124195400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr8:124194000-124195400	Enhancers	A549	lung
12	chr8:124194000-124195600	Enhancers	Gastric	stomach
13	chr8:124194200-124195000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:124194200-124195000	Enhancers	Fetal Lung	lung
15	chr8:124194200-124195000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr8:124194200-124195200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr8:124194200-124195200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:124194200-124195200	Enhancers	Fetal Intestine Small	intestine
19	chr8:124194200-124195200	Enhancers	Pancreas	Pancrea
20	chr8:124194200-124195200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr8:124194400-124195000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:124194400-124195000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:124194400-124195400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:124194600-124195000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:124194600-124195000	Enhancers	Adipose Nuclei	Adipose
26	chr8:124194600-124195200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:124194600-124195200	Bivalent Enhancer	Stomach Mucosa	stomach
28	chr8:124194600-124195600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
29	chr8:124194600-124197600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:124194800-124195000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:124194800-124195200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr8:124194800-124195400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:124194800-124195600	Enhancers	Lung	lung
34	chr8:124194800-124195800	Flanking Active TSS	HMEC	breast
35	chr8:124194800-124196200	Active TSS	Hela-S3	cervix
36	chr8:124194800-124196200	Active TSS	K562	blood
37	chr8:124194800-124196400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:124194800-124196400	Active TSS	NHEK	skin
39	chr8:124194800-124197400	Active TSS	Esophagus	oesophagus

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