Variant report

Variant	rs2274913
Chromosome Location	chr1:70689215-70689216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:70689208-70689309	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:70686388-70698918	K562	blood:	n/a	n/a
3	POLR2A	chr1:70689143-70689256	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:70688424..70691720-chr1:70692048..70694571,6	MCF-7	breast:
2	chr1:70687323..70689346-chr1:70692516..70694332,3	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:
6	chr1:70686799..70689606-chr1:70818481..70820974,3	K562	blood:

No data

Variant related genes	Relation type
SRSF11	TF binding region
ENSG00000228988	TF binding region
ENSG00000197568	Chromatin interaction
ENSG00000066557	Chromatin interaction
ENSG00000118454	Chromatin interaction
ENSG00000116754	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

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];0.99[ASN][1000 genomes]
rs10489928	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562802	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12565362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566666	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17131235	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17131238	0.80[CHD][hapmap]
rs17131241	0.80[CHD][hapmap]
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];1.00[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];1.00[ASN][1000 genomes]
rs17131251	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034756	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2210545	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];1.00[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];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]
rs2478801	0.89[AMR][1000 genomes]
rs34821575	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35522955	0.80[CHD][hapmap]
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];1.00[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];0.97[ASN][1000 genomes]
rs3767206	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3767207	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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];1.00[ASN][1000 genomes]
rs3767214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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];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]
rs41488747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[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];0.98[ASN][1000 genomes]
rs476591	0.80[CHD][hapmap]
rs522320	0.80[CHD][hapmap]
rs55727788	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56902977	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58639674	0.86[ASN][1000 genomes]
rs58696538	0.88[EUR][1000 genomes]
rs58927829	0.90[EUR][1000 genomes];0.93[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];0.99[ASN][1000 genomes]
rs60441970	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs632517	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs655588	0.85[AMR][1000 genomes]
rs666163	0.80[CHD][hapmap]
rs668525	1.00[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];1.00[ASN][1000 genomes]
rs716240	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74085992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74085996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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];0.99[ASN][1000 genomes]
rs74088016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74088024	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];0.96[ASN][1000 genomes]
rs74088035	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74088042	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7533067	0.85[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70687600-70689600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr1:70687800-70691200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:70687800-70697200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:70687800-70698600	Weak transcription	Gastric	stomach
5	chr1:70687800-70698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:70687800-70699600	Weak transcription	Lung	lung
7	chr1:70687800-70699600	Weak transcription	Spleen	Spleen
8	chr1:70688000-70689400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:70688000-70689600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:70688000-70689600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
11	chr1:70688000-70689600	Weak transcription	Ovary	ovary
12	chr1:70688000-70689800	Weak transcription	Left Ventricle	heart
13	chr1:70688000-70690000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:70688000-70690000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:70688000-70697200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:70688000-70697200	Weak transcription	Pancreas	Pancrea
17	chr1:70688000-70697800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:70688000-70699000	Weak transcription	Psoas Muscle	Psoas
19	chr1:70688000-70710400	Weak transcription	Aorta	Aorta
20	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
21	chr1:70688200-70689400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
22	chr1:70688200-70689400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr1:70688200-70689400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:70688200-70689600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:70688200-70689600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:70688200-70689600	Weak transcription	Right Ventricle	heart
27	chr1:70688200-70689800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:70688200-70689800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:70688200-70690000	Enhancers	Brain Substantia Nigra	brain
30	chr1:70688200-70690600	Weak transcription	Thymus	Thymus
31	chr1:70688200-70696200	Weak transcription	Colonic Mucosa	Colon
32	chr1:70688200-70708200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:70688400-70689400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
34	chr1:70688400-70689400	Transcr. at gene 5' and 3'	Hela-S3	cervix
35	chr1:70688400-70689600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:70688400-70689600	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:70688400-70689600	Flanking Active TSS	HepG2	liver
38	chr1:70688400-70689800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
39	chr1:70688400-70689800	Enhancers	Brain Hippocampus Middle	brain
40	chr1:70688400-70689800	Enhancers	Fetal Intestine Small	intestine
41	chr1:70688400-70689800	Transcr. at gene 5' and 3'	K562	blood
42	chr1:70688400-70690000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:70688400-70693000	Weak transcription	Fetal Stomach	stomach
44	chr1:70688400-70693800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:70688400-70719400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:70688600-70689400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
47	chr1:70688600-70689400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
48	chr1:70688600-70689400	Enhancers	Stomach Smooth Muscle	stomach
49	chr1:70688600-70689400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
50	chr1:70688600-70689400	Transcr. at gene 5' and 3'	NHEK	skin

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