Variant report

Variant	rs4851264
Chromosome Location	chr2:100810188-100810189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100799651..100801761-chr2:100808694..100811483,3	MCF-7	breast:
2	chr2:100802266..100804916-chr2:100808443..100810252,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10194635	0.81[ASN][1000 genomes]
rs10496345	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10496346	0.80[EUR][1000 genomes]
rs10865035	0.84[ASN][1000 genomes]
rs11123817	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11123818	0.80[EUR][1000 genomes]
rs11123823	1.00[YRI][hapmap]
rs1122231	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1160542	0.81[ASN][1000 genomes]
rs1160543	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1160544	0.81[ASN][1000 genomes]
rs1160545	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11678979	0.91[ASN][1000 genomes]
rs11684761	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11685491	0.88[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs11686372	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11687241	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11689199	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11689201	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11690335	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11691409	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11691869	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11693324	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11694723	1.00[YRI][hapmap]
rs11695383	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11695996	0.88[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs12053126	0.80[EUR][1000 genomes]
rs12614880	0.81[EUR][1000 genomes]
rs12615145	0.80[EUR][1000 genomes]
rs12619178	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12712073	0.87[ASN][1000 genomes]
rs12987662	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12990462	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12991254	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12992090	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12994592	0.88[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs13002946	0.89[ASN][1000 genomes]
rs13010010	0.80[EUR][1000 genomes]
rs13013169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13017207	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13018640	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13019179	1.00[YRI][hapmap]
rs13026143	0.80[EUR][1000 genomes]
rs13026283	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13034176	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1465800	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1465801	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2309757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2309812	0.80[EUR][1000 genomes]
rs2309837	0.81[ASN][1000 genomes]
rs2309838	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2871344	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4303732	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4583487	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4622752	1.00[YRI][hapmap]
rs4851266	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4851267	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4851268	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4851269	0.81[ASN][1000 genomes]
rs4851270	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4851271	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6709656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6722241	0.87[ASN][1000 genomes]
rs6722661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6750097	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6750505	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6754937	0.81[ASN][1000 genomes]
rs7566527	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893246	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9653442	0.81[ASN][1000 genomes]
rs999052	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100800000-100810200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:100800000-100814000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:100801800-100813600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:100806200-100814200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:100807400-100812000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:100808600-100810400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:100809000-100810400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:100809000-100810800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:100809000-100810800	Enhancers	Stomach Mucosa	stomach
10	chr2:100809000-100811400	Enhancers	Lung	lung
11	chr2:100809200-100810200	Enhancers	K562	blood
12	chr2:100809200-100810800	Enhancers	Placenta	Placenta
13	chr2:100809200-100810800	Enhancers	HUVEC	blood vessel
14	chr2:100809400-100810200	Enhancers	Fetal Muscle Leg	muscle
15	chr2:100809400-100810200	Enhancers	NH-A	brain
16	chr2:100809400-100810600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:100809400-100810600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:100809400-100813000	Enhancers	Fetal Intestine Large	intestine
19	chr2:100809600-100810200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:100809600-100810600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:100809600-100810600	Enhancers	Duodenum Mucosa	Duodenum
22	chr2:100809600-100815600	Enhancers	Fetal Lung	lung
23	chr2:100809800-100810200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:100809800-100810200	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:100809800-100810400	Enhancers	Hela-S3	cervix
26	chr2:100809800-100812400	Enhancers	Fetal Intestine Small	intestine
27	chr2:100809800-100812600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:100809800-100813400	Weak transcription	Fetal Heart	heart
29	chr2:100809800-100814200	Enhancers	Adipose Nuclei	Adipose
30	chr2:100810000-100810200	Enhancers	HSMMtube	muscle
31	chr2:100810000-100810400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:100810000-100810400	Weak transcription	Left Ventricle	heart
33	chr2:100810000-100810400	Weak transcription	Psoas Muscle	Psoas
34	chr2:100810000-100810400	Weak transcription	Right Atrium	heart
35	chr2:100810000-100810400	Weak transcription	Right Ventricle	heart
36	chr2:100810000-100810400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:100810000-100812000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr2:100810000-100812200	Weak transcription	Aorta	Aorta
39	chr2:100810000-100812400	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:100810000-100813600	Weak transcription	NHDF-Ad	bronchial

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