Variant report

Variant	rs62521841
Chromosome Location	chr8:124194625-124194626
allele	A/C/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	CEBPB	chr8:124194555-124194930	H1-hESC	embryonic stem cell:	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	CEBPB	chr8:124194542-124194809	HepG2	liver:	n/a	n/a
6	CTCF	chr8:124194620-124194770	SAEC	small airway:	n/a	n/a
7	MAX	chr8:124194576-124195169	K562	blood:	n/a	n/a
8	SMARCC1	chr8:124193611-124195830	Hela-S3	cervix:	n/a	n/a
9	SMARCB1	chr8:124193728-124195828	Hela-S3	cervix:	n/a	n/a
10	YY1	chr8:124194573-124194873	HCT-116	colon:	n/a	n/a
11	JUN	chr8:124193193-124195893	K562	blood:	n/a	n/a
12	BHLHE40	chr8:124193972-124195412	K562	blood:	n/a	n/a
13	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
14	STAT3	chr8:124194578-124194973	Hela-S3	cervix:	n/a	n/a
15	ZNF143	chr8:124194558-124195255	Hela-S3	cervix:	n/a	n/a
16	PML	chr8:124194456-124195571	K562	blood:	n/a	n/a
17	TAF1	chr8:124194555-124195102	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr8:124193710-124195780	K562	blood:	n/a	n/a
19	POLR2A	chr8:124194592-124195481	MCF10A-Er-Src	breast:	n/a	n/a
20	CBX3	chr8:124193372-124195852	K562	blood:	n/a	n/a
21	CEBPB	chr8:124194039-124195268	MCF-7	breast:	n/a	n/a
22	SMC3	chr8:124194249-124195584	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr8:124194312-124195811	Hela-S3	cervix:	n/a	n/a
24	RCOR1	chr8:124193583-124195702	K562	blood:	n/a	n/a
25	MYC	chr8:124194583-124194953	MCF-7	breast:	n/a	n/a
26	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
27	CEBPB	chr8:124194496-124194997	ECC-1	luminal epithelium:	n/a	n/a
28	USF2	chr8:124193887-124195055	Hela-S3	cervix:	n/a	n/a
29	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
30	HMGN3	chr8:124194036-124195835	K562	blood:	n/a	n/a
31	TBL1XR1	chr8:124194519-124195874	K562	blood:	n/a	n/a
32	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
33	TRIM28	chr8:124194433-124195217	K562	blood:	n/a	n/a
34	RAD21	chr8:124194085-124195145	MCF-7	breast:	n/a	n/a
35	SMARCA4	chr8:124194615-124195080	K562	blood:	n/a	n/a
36	CEBPB	chr8:124194550-124194931	HepG2	liver:	n/a	n/a
37	STAT3	chr8:124194596-124195118	MCF10A-Er-Src	breast:	n/a	n/a
38	MXI1	chr8:124194032-124195701	Hela-S3	cervix:	n/a	chr8:124194202-124194211 chr8:124194860-124194869 chr8:124194239-124194248
39	NFIC	chr8:124194376-124195176	ECC-1	luminal epithelium:	n/a	n/a
40	FOSL1	chr8:124194600-124195077	K562	blood:	n/a	n/a
41	RFX5	chr8:124194205-124195304	Hela-S3	cervix:	n/a	n/a
42	TCF12	chr8:124194185-124195024	ECC-1	luminal epithelium:	n/a	chr8:124194859-124194869
43	TRIM28	chr8:124194592-124195034	K562	blood:	n/a	n/a
44	NR2F2	chr8:124194600-124195101	K562	blood:	n/a	n/a
45	EP300	chr8:124194520-124195011	T-47D	breast:	n/a	chr8:124194778-124194794 chr8:124194966-124194982
46	MAZ	chr8:124193729-124195888	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
47	RAD21	chr8:124194547-124195047	Hela-S3	cervix:	n/a	n/a
48	HCFC1	chr8:124194578-124195047	K562	blood:	n/a	n/a
49	CEBPB	chr8:124194387-124195086	ECC-1	luminal epithelium:	n/a	n/a
50	CCNT2	chr8:124193763-124195770	K562	blood:	n/a	chr8:124194866-124194886

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:124194624-124194674	RPTEC	kidney:	n/a
2	chr8:124194624-124194674	HRE	kidney:	n/a
3	chr8:124194624-124194674	ovcar-3	ovarian:	n/a
4	chr8:124194624-124194674	PrEC	prostate:	n/a
5	chr8:124194624-124194674	HIPEpiC	eye:	n/a
6	chr8:124194624-124194674	HEK293	kidney:	embryo
7	chr8:124194624-124194674	HRPEpiC	eye:	n/a
8	chr8:124194624-124194674	HPAEpiC	pulmonary alveolar:	n/a
9	chr8:124194624-124194674	NHBE	bronchial:	n/a
10	chr8:124194624-124194674	GM12878	blood:	n/a
11	chr8:124194624-124194674	Hela-S3	cervix:	n/a
12	chr8:124194624-124194674	BJ	skin:	n/a
13	chr8:124194624-124194674	CMK	blood:	n/a
14	chr8:124194624-124194674	NH-A	brain:	n/a
15	chr8:124194624-124194674	K562	blood:	n/a
16	chr8:124194624-124194674	SK-N-SH	brain:	n/a
17	chr8:124194624-124194674	Jurkat	blood:	n/a
18	chr8:124194624-124194674	IMR90	lung:	fetal
19	chr8:124194624-124194674	ProgFib	skin:	n/a
20	chr8:124194624-124194674	LNCaP	prostate:	n/a
21	chr8:124194624-124194674	H1-hESC	embryonic stem cell:	embryo
22	chr8:124194624-124194674	HCM	heart:	n/a
23	chr8:124194624-124194674	AG09309	skin:	n/a
24	chr8:124194624-124194674	GM12892	blood:	n/a
25	chr8:124194624-124194674	HCPEpiC	choroid plexus:	n/a
26	chr8:124194624-124194674	SK-N-SH_RA	brain:	n/a
27	chr8:124194624-124194674	NB4	blood:	n/a
28	chr8:124194624-124194674	AoSMC	blood vessel:	n/a
29	chr8:124194624-124194674	MCF10A-Er-Src	breast:	n/a
30	chr8:124194624-124194674	SKMC	muscle:	n/a
31	chr8:124194624-124194674	AG09319	gingival:	n/a
32	chr8:124194624-124194674	Caco-2	colon:	n/a
33	chr8:124194624-124194674	PFSK-1	brain:	n/a
34	chr8:124194624-124194674	HUVEC	blood vessel:	n/a
35	chr8:124194624-124194674	U87	brain:	n/a
36	chr8:124194624-124194674	MCF-7	breast:	n/a
37	chr8:124194624-124194674	HEEpiC	esophagus:	n/a
38	chr8:124194624-124194674	GM06990	blood:	n/a
39	chr8:124194624-124194674	T-47D	breast:	n/a
40	chr8:124194624-124194674	HCT-116	colon:	n/a
41	chr8:124194624-124194674	PANC-1	pancreas:	n/a
42	chr8:124194624-124194674	AG04449	skin:	fetal
43	chr8:124194624-124194674	GM12891	blood:	n/a
44	chr8:124194624-124194674	SAEC	small airway:	n/a
45	chr8:124194624-124194674	NHDF-neo	bronchial:	n/a
46	chr8:124194624-124194674	ECC-1	luminal epithelium:	n/a
47	chr8:124194624-124194674	GM19239	blood:	n/a
48	chr8:124194624-124194674	HRCEpiC	kidney:	n/a
49	chr8:124194624-124194674	A549	lung:	n/a
50	chr8:124194624-124194674	HNPCEpiC	eye:	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	chr8:124190630..124193137-chr8:124193333..124194931,3	K562	blood:
4	chr8:124193270..124195385-chr8:124214799..124217849,3	MCF-7	breast:
5	chr8:124193513..124196464-chr8:124251453..124254770,3	MCF-7	breast:
6	chr8:124052976..124054549-chr8:124192727..124195649,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM83A-2	chr8:124194592-124194823	NONHSAT128518

Variant related genes	Relation type
FAM83A	TF binding region
ENSG00000221461	TF binding region
ENSG00000221461	CpG island
FAM83A	CpG island
ENSG00000221461	Chromatin interaction
ENSG00000189376	Chromatin interaction
ENSG00000156787	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000204949	Chromatin interaction
ENSG00000136986	Chromatin interaction
ENSG00000266324	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10096350	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10505430	0.96[EUR][1000 genomes]
rs11988157	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992152	0.89[EUR][1000 genomes]
rs13259806	0.93[EUR][1000 genomes]
rs13260626	0.93[EUR][1000 genomes]
rs13260775	0.93[EUR][1000 genomes]
rs13260798	0.93[EUR][1000 genomes]
rs13261021	0.93[EUR][1000 genomes]
rs13261066	0.93[EUR][1000 genomes]
rs13261100	0.93[EUR][1000 genomes]
rs16898076	0.87[EUR][1000 genomes]
rs16898084	0.93[EUR][1000 genomes]
rs16898086	0.96[EUR][1000 genomes]
rs16898088	0.96[EUR][1000 genomes]
rs16898095	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16898097	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1713732	0.90[AMR][1000 genomes]
rs1713733	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17323510	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2602001	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28513831	0.87[EUR][1000 genomes]
rs28528232	0.87[EUR][1000 genomes]
rs28537152	0.85[EUR][1000 genomes]
rs28542077	0.96[EUR][1000 genomes]
rs28624331	0.96[EUR][1000 genomes]
rs28670850	0.87[EUR][1000 genomes]
rs28694222	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4282551	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4377946	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57165742	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57322232	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57902736	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58116120	0.96[EUR][1000 genomes]
rs58177772	0.87[EUR][1000 genomes]
rs58189203	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58741168	0.96[EUR][1000 genomes]
rs59601467	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59834873	0.87[EUR][1000 genomes]
rs60362869	0.93[EUR][1000 genomes]
rs60827294	0.87[EUR][1000 genomes]
rs61326230	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61422480	0.87[EUR][1000 genomes]
rs62521826	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6983795	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6988636	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6989108	0.82[AMR][1000 genomes]
rs7002021	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7002332	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9987352	0.87[EUR][1000 genomes]
rs9987357	0.87[EUR][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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124189800-124194800	Enhancers	HMEC	breast
2	chr8:124193200-124195800	Enhancers	Placenta	Placenta
3	chr8:124193400-124194800	Enhancers	Duodenum Mucosa	Duodenum
4	chr8:124193400-124195000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:124193400-124241200	Weak transcription	Right Atrium	heart
6	chr8:124193600-124194800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:124193600-124194800	Flanking Active TSS	Hela-S3	cervix
8	chr8:124193600-124194800	Flanking Active TSS	K562	blood
9	chr8:124193600-124194800	Flanking Active TSS	NHEK	skin
10	chr8:124193600-124195000	Bivalent Enhancer	HepG2	liver
11	chr8:124193800-124194800	Flanking Active TSS	Esophagus	oesophagus
12	chr8:124193800-124195400	Enhancers	Primary hematopoietic stem cells	blood
13	chr8:124193800-124195600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:124194000-124194800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:124194000-124194800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:124194000-124195000	Enhancers	Colonic Mucosa	Colon
17	chr8:124194000-124195200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:124194000-124195400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:124194000-124195400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:124194000-124195400	Enhancers	A549	lung
21	chr8:124194000-124195600	Enhancers	Gastric	stomach
22	chr8:124194200-124195000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:124194200-124195000	Enhancers	Fetal Lung	lung
24	chr8:124194200-124195000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr8:124194200-124195200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:124194200-124195200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:124194200-124195200	Enhancers	Fetal Intestine Small	intestine
28	chr8:124194200-124195200	Enhancers	Pancreas	Pancrea
29	chr8:124194200-124195200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr8:124194400-124194800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:124194400-124194800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr8:124194400-124195000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:124194400-124195000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:124194400-124195400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:124194600-124194800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr8:124194600-124194800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:124194600-124194800	Bivalent Enhancer	Fetal Thymus	thymus
38	chr8:124194600-124194800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
39	chr8:124194600-124195000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:124194600-124195000	Enhancers	Adipose Nuclei	Adipose
41	chr8:124194600-124195200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:124194600-124195200	Bivalent Enhancer	Stomach Mucosa	stomach
43	chr8:124194600-124195600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
44	chr8:124194600-124197600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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