Variant report

Variant	rs16898097
Chromosome Location	chr8:124195034-124195035
allele	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	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
2	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
3	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
4	EP300	chr8:124194705-124195055	K562	blood:	n/a	chr8:124194778-124194794 chr8:124194966-124194982
5	MAX	chr8:124194576-124195169	K562	blood:	n/a	n/a
6	SMARCC1	chr8:124193611-124195830	Hela-S3	cervix:	n/a	n/a
7	SMARCB1	chr8:124193728-124195828	Hela-S3	cervix:	n/a	n/a
8	JUN	chr8:124193193-124195893	K562	blood:	n/a	n/a
9	POLR2A	chr8:124194764-124195874	K562	blood:	n/a	n/a
10	BHLHE40	chr8:124193972-124195412	K562	blood:	n/a	n/a
11	ZNF143	chr8:124194558-124195255	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr8:124194642-124195879	MCF10A-Er-Src	breast:	n/a	n/a
13	PML	chr8:124194456-124195571	K562	blood:	n/a	n/a
14	TAF1	chr8:124194555-124195102	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr8:124193710-124195780	K562	blood:	n/a	n/a
16	POLR2A	chr8:124194592-124195481	MCF10A-Er-Src	breast:	n/a	n/a
17	CBX3	chr8:124193372-124195852	K562	blood:	n/a	n/a
18	CEBPB	chr8:124194039-124195268	MCF-7	breast:	n/a	n/a
19	ELF1	chr8:124194721-124195504	K562	blood:	n/a	chr8:124195121-124195134
20	SMC3	chr8:124194249-124195584	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr8:124194312-124195811	Hela-S3	cervix:	n/a	n/a
22	RCOR1	chr8:124193583-124195702	K562	blood:	n/a	n/a
23	ELK1	chr8:124194723-124195248	K562	blood:	n/a	n/a
24	GATA1	chr8:124194693-124195078	PBDEFetal	blood:	n/a	chr8:124194875-124194884 chr8:124194866-124194883
25	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
26	USF2	chr8:124193887-124195055	Hela-S3	cervix:	n/a	n/a
27	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
28	HMGN3	chr8:124194036-124195835	K562	blood:	n/a	n/a
29	TBL1XR1	chr8:124194519-124195874	K562	blood:	n/a	n/a
30	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
31	TRIM28	chr8:124194433-124195217	K562	blood:	n/a	n/a
32	ZNF143	chr8:124194705-124195093	K562	blood:	n/a	n/a
33	RAD21	chr8:124194085-124195145	MCF-7	breast:	n/a	n/a
34	SMARCA4	chr8:124194615-124195080	K562	blood:	n/a	n/a
35	STAT3	chr8:124194596-124195118	MCF10A-Er-Src	breast:	n/a	n/a
36	MXI1	chr8:124194032-124195701	Hela-S3	cervix:	n/a	chr8:124194202-124194211 chr8:124194860-124194869 chr8:124194239-124194248
37	TAF1	chr8:124194642-124195250	K562	blood:	n/a	n/a
38	NFIC	chr8:124194376-124195176	ECC-1	luminal epithelium:	n/a	n/a
39	FOSL1	chr8:124194600-124195077	K562	blood:	n/a	n/a
40	RFX5	chr8:124194205-124195304	Hela-S3	cervix:	n/a	n/a
41	E2F4	chr8:124194643-124195778	K562	blood:	n/a	n/a
42	TRIM28	chr8:124194592-124195034	K562	blood:	n/a	n/a
43	NR2F2	chr8:124194600-124195101	K562	blood:	n/a	n/a
44	GTF2F1	chr8:124194727-124195216	K562	blood:	n/a	n/a
45	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
46	RAD21	chr8:124194547-124195047	Hela-S3	cervix:	n/a	n/a
47	HCFC1	chr8:124194578-124195047	K562	blood:	n/a	n/a
48	CEBPB	chr8:124194387-124195086	ECC-1	luminal epithelium:	n/a	n/a
49	CCNT2	chr8:124193763-124195770	K562	blood:	n/a	chr8:124194866-124194886
50	EP300	chr8:124194262-124195174	MCF-7	breast:	n/a	chr8:124194778-124194794 chr8:124194966-124194982

No.	Distal block	Cell Line	Cell type
1	chr8:124194480..124197339-chr8:124228010..124229599,2	MCF-7	breast:
2	chr8:124194984..124197268-chr8:124286516..124288692,3	MCF-7	breast:
3	chr8:124192727..124195343-chr8:124286448..124288328,2	MCF-7	breast:
4	chr8:124193270..124195385-chr8:124214799..124217849,3	MCF-7	breast:
5	chr8:124193513..124196464-chr8:124251453..124254770,3	MCF-7	breast:
6	chr2:201754099..201754635-chr8:124194973..124195522,2	Hela-S3	cervix:
7	chr8:124052976..124054549-chr8:124192727..124195649,2	K562	blood:

Variant related genes	Relation type
ENSG00000221461	TF binding region
ENSG00000253258	TF binding region
FAM83A	TF binding region
ENSG00000189376	Chromatin interaction
ENSG00000196290	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000266324	Chromatin interaction
ENSG00000136986	Chromatin interaction
ENSG00000204949	Chromatin interaction
ENSG00000156787	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	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10505430	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11988157	1.00[CEU][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992152	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13259806	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13260626	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13260775	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13260798	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13261021	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13261066	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13261100	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16898076	1.00[CEU][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16898084	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16898086	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16898088	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16898095	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1713733	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs17323510	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2602001	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28513831	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28528232	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28537152	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28542077	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28624331	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28670850	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28694222	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4282551	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4377946	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57165742	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57322232	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57902736	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58116120	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58177772	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58189203	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58741168	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59601467	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59834873	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60362869	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60827294	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61326230	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61422480	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62521825	0.80[AMR][1000 genomes]
rs62521826	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62521841	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6983795	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6988636	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6989108	0.84[AMR][1000 genomes]
rs7002021	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7002332	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9987352	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9987357	1.00[CEU][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124193200-124195800	Enhancers	Placenta	Placenta
2	chr8:124193400-124241200	Weak transcription	Right Atrium	heart
3	chr8:124193800-124195400	Enhancers	Primary hematopoietic stem cells	blood
4	chr8:124193800-124195600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:124194000-124195200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:124194000-124195400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:124194000-124195400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr8:124194000-124195400	Enhancers	A549	lung
9	chr8:124194000-124195600	Enhancers	Gastric	stomach
10	chr8:124194200-124195200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:124194200-124195200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:124194200-124195200	Enhancers	Fetal Intestine Small	intestine
13	chr8:124194200-124195200	Enhancers	Pancreas	Pancrea
14	chr8:124194200-124195200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr8:124194400-124195400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:124194600-124195200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:124194600-124195200	Bivalent Enhancer	Stomach Mucosa	stomach
18	chr8:124194600-124195600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
19	chr8:124194600-124197600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:124194800-124195200	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr8:124194800-124195400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:124194800-124195600	Enhancers	Lung	lung
23	chr8:124194800-124195800	Flanking Active TSS	HMEC	breast
24	chr8:124194800-124196200	Active TSS	Hela-S3	cervix
25	chr8:124194800-124196200	Active TSS	K562	blood
26	chr8:124194800-124196400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:124194800-124196400	Active TSS	NHEK	skin
28	chr8:124194800-124197400	Active TSS	Esophagus	oesophagus
29	chr8:124195000-124195200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:124195000-124195200	Flanking Active TSS	Colonic Mucosa	Colon
31	chr8:124195000-124195600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:124195000-124195800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:124195000-124195800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:124195000-124196800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:124195000-124201800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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