Variant report

Variant	rs10157989
Chromosome Location	chr1:211812068-211812069
allele	C/T
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	EP300	chr1:211811992-211812500	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:211811903-211812566	Hela-S3	cervix:	n/a	n/a
3	TFAP2C	chr1:211811691-211813538	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:211811826-211812523	Hela-S3	cervix:	n/a	n/a
5	GTF3C2	chr1:211811970-211813137	Hela-S3	cervix:	n/a	n/a
6	SMARCC1	chr1:211811409-211812476	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr1:211811877-211813893	Hela-S3	cervix:	n/a	n/a
8	STAT3	chr1:211812019-211812515	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr1:211811911-211812120	NHEK	skin:	n/a	n/a
10	RFX5	chr1:211811963-211813884	Hela-S3	cervix:	n/a	chr1:211812995-211813010
11	RAD21	chr1:211812028-211812480	Hela-S3	cervix:	n/a	n/a
12	TCF7L2	chr1:211811803-211813778	Hela-S3	cervix:	n/a	chr1:211812465-211812474
13	ELK4	chr1:211812056-211812445	Hela-S3	cervix:	n/a	n/a
14	TBP	chr1:211811945-211812467	Hela-S3	cervix:	n/a	n/a
15	MXI1	chr1:211812013-211812479	Hela-S3	cervix:	n/a	n/a
16	SMC3	chr1:211811991-211812491	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:211811726-211814344	Hela-S3	cervix:	n/a	n/a
18	SMARCC2	chr1:211811895-211812455	Hela-S3	cervix:	n/a	n/a
19	FOS	chr1:211812068-211812473	MCF10A-Er-Src	breast:	n/a	n/a
20	GTF2F1	chr1:211811976-211812483	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr1:211811980-211812068	Spleen_OC	spleen:	n/a	n/a
22	MAZ	chr1:211811829-211812524	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr1:211811960-211812110	HRE	kidney:	n/a	n/a
24	POLR2A	chr1:211811859-211812520	Hela-S3	cervix:	n/a	n/a
25	TFAP2A	chr1:211811767-211813439	Hela-S3	cervix:	n/a	chr1:211812131-211812146
26	MAX	chr1:211811920-211812524	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr1:211811985-211812504	Hela-S3	cervix:	n/a	n/a
28	USF2	chr1:211811857-211812458	Hela-S3	cervix:	n/a	n/a
29	RCOR1	chr1:211811915-211813863	Hela-S3	cervix:	n/a	n/a
30	MYC	chr1:211811924-211812550	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr1:211811977-211812437	Hela-S3	cervix:	n/a	n/a
32	ZKSCAN1	chr1:211811969-211812424	Hela-S3	cervix:	n/a	n/a
33	MAX	chr1:211811899-211812518	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211747427..211749600-chr1:211810215..211812897,2	K562	blood:

Variant related genes	Relation type
ENSG00000227764	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10158618	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158723	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494940	1.00[JPT][hapmap]
rs11577181	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580557	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590554	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239534	1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12711504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711505	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711506	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711507	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12730869	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749444	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12751564	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12755496	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17017855	1.00[ASN][1000 genomes]
rs17651870	1.00[JPT][hapmap]
rs34028707	0.95[ASN][1000 genomes]
rs4345851	0.81[ASN][1000 genomes]
rs4399227	0.81[ASN][1000 genomes]
rs4562684	0.81[ASN][1000 genomes]
rs4951414	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4951417	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4951420	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs603227	1.00[JPT][hapmap]
rs6540692	0.81[ASN][1000 genomes]
rs7529914	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765202	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211804200-211813400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:211804200-211816600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:211806800-211813000	Weak transcription	Stomach Mucosa	stomach
4	chr1:211807000-211816200	Weak transcription	Colonic Mucosa	Colon
5	chr1:211807000-211816200	Weak transcription	Ovary	ovary
6	chr1:211807200-211816600	Weak transcription	Right Ventricle	heart
7	chr1:211807200-211817200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:211807400-211812200	Weak transcription	NH-A	brain
9	chr1:211807400-211816800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:211807600-211812800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:211807600-211812800	Weak transcription	Pancreas	Pancrea
12	chr1:211807600-211813000	Weak transcription	HSMMtube	muscle
13	chr1:211807600-211816600	Weak transcription	Left Ventricle	heart
14	chr1:211809400-211813000	Enhancers	A549	lung
15	chr1:211809800-211813000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:211810200-211812200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:211810200-211813000	Weak transcription	HSMM	muscle
18	chr1:211810600-211816400	Weak transcription	Spleen	Spleen
19	chr1:211810800-211812200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:211811200-211813600	Enhancers	Placenta	Placenta
21	chr1:211811400-211812600	Flanking Active TSS	Hela-S3	cervix
22	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine
23	chr1:211811600-211812200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:211811600-211812600	Enhancers	Esophagus	oesophagus
25	chr1:211811600-211813000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:211811600-211813000	Enhancers	HepG2	liver
27	chr1:211811600-211815000	Enhancers	Liver	Liver
28	chr1:211811600-211828200	Enhancers	Fetal Intestine Large	intestine
29	chr1:211811800-211814000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:211812000-211812400	Enhancers	Adipose Nuclei	Adipose
31	chr1:211812000-211813000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:211812000-211813000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:211812000-211813000	Enhancers	HUVEC	blood vessel
34	chr1:211812000-211813000	Enhancers	NHLF	lung
35	chr1:211812000-211813000	Enhancers	Osteobl	bone
36	chr1:211812000-211813200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:211812000-211813200	Enhancers	HMEC	breast
38	chr1:211812000-211813800	Enhancers	NHDF-Ad	bronchial
39	chr1:211812000-211814000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:211812000-211814400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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