Variant report

Variant	rs2210545
Chromosome Location	chr1:70690022-70690023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:70689784-70691462	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:70689433-70690393	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:70690009-70690209	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:70686388-70698918	K562	blood:	n/a	n/a
5	POLR2A	chr1:70689973-70690677	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:70689625-70691541	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:70669146..70671967-chr1:70689438..70693050,5	K562	blood:
2	chr1:70688424..70691720-chr1:70692048..70694571,6	MCF-7	breast:
3	chr1:70688440..70690850-chr1:70877083..70879333,2	K562	blood:
4	chr1:70667153..70674800-chr1:70681943..70693478,26	K562	blood:
5	chr1:70685268..70690578-chr1:70702989..70707451,6	MCF-7	breast:

No data

Variant related genes	Relation type
SRSF11	TF binding region
ENSG00000228988	TF binding region
ENSG00000066557	Chromatin interaction
ENSG00000116754	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10489927	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10489928	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12562802	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12565362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12566666	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17131235	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17131248	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.92[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131251	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2034756	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2274913	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];0.92[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];0.99[ASN][1000 genomes]
rs2297484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2297486	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];0.92[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];0.99[ASN][1000 genomes]
rs2478801	0.89[AMR][1000 genomes]
rs34821575	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35262515	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3753817	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767206	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767207	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3767208	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3767214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3920731	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];0.92[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];0.99[ASN][1000 genomes]
rs41488747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs4649913	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4650031	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55727788	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56902977	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58639674	0.85[ASN][1000 genomes]
rs58696538	0.88[EUR][1000 genomes]
rs58927829	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59234513	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60272091	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60441970	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs632517	0.92[MEX][hapmap];0.89[AMR][1000 genomes]
rs655588	0.85[AMR][1000 genomes]
rs668525	0.92[MEX][hapmap];0.94[AMR][1000 genomes]
rs6702168	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];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs716240	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74085992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74085996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74085999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74088004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74088016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74088024	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74088029	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs74088032	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74088035	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74088042	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7533067	0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv870841	chr1:70612416-70696554	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv871898	chr1:70681486-70723347	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1014292	chr1:70689215-70799065	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2210545	SFRS11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70687800-70691200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:70687800-70697200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:70687800-70698600	Weak transcription	Gastric	stomach
4	chr1:70687800-70698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:70687800-70699600	Weak transcription	Lung	lung
6	chr1:70687800-70699600	Weak transcription	Spleen	Spleen
7	chr1:70688000-70697200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:70688000-70697200	Weak transcription	Pancreas	Pancrea
9	chr1:70688000-70697800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:70688000-70699000	Weak transcription	Psoas Muscle	Psoas
11	chr1:70688000-70710400	Weak transcription	Aorta	Aorta
12	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
13	chr1:70688200-70690600	Weak transcription	Thymus	Thymus
14	chr1:70688200-70696200	Weak transcription	Colonic Mucosa	Colon
15	chr1:70688200-70708200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:70688400-70693000	Weak transcription	Fetal Stomach	stomach
17	chr1:70688400-70693800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:70688400-70719400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:70688600-70691400	Genic enhancers	Colon Smooth Muscle	Colon
20	chr1:70688600-70691800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:70688600-70719800	Strong transcription	Fetal Thymus	thymus
22	chr1:70688800-70690200	Genic enhancers	Primary hematopoietic stem cells	blood
23	chr1:70688800-70690400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:70688800-70690400	Genic enhancers	Fetal Lung	lung
25	chr1:70688800-70690800	Genic enhancers	Duodenum Mucosa	Duodenum
26	chr1:70688800-70691000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:70688800-70691000	Genic enhancers	Liver	Liver
28	chr1:70688800-70691200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
29	chr1:70688800-70691600	Strong transcription	HSMM	muscle
30	chr1:70688800-70692400	Weak transcription	Right Atrium	heart
31	chr1:70688800-70692600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr1:70689000-70690200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:70689000-70690400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr1:70689000-70690400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
35	chr1:70689000-70690600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:70689000-70690600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:70689000-70690600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:70689000-70690800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:70689000-70691200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:70689000-70692600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:70689000-70694800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:70689000-70717800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr1:70689000-70718200	Strong transcription	Placenta	Placenta
44	chr1:70689200-70690200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
45	chr1:70689200-70690200	Genic enhancers	Fetal Kidney	kidney
46	chr1:70689200-70690600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
47	chr1:70689200-70690600	Genic enhancers	A549	lung
48	chr1:70689200-70690800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:70689200-70691200	Genic enhancers	Fetal Heart	heart
50	chr1:70689200-70691200	Genic enhancers	Fetal Intestine Large	intestine

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