Variant report

Variant	rs11126376
Chromosome Location	chr2:72803439-72803440
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:72802770..72805375-chr2:72805450..72807796,2	MCF-7	breast:
2	chr2:72797499..72799587-chr2:72800647..72803483,4	MCF-7	breast:
3	chr2:72375894..72377452-chr2:72802054..72803816,2	MCF-7	breast:

Extended variants
information (count: 175 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:168)

rs_ID	r²[population]
rs10183056	1.00[CHB][hapmap]
rs10206555	1.00[CHB][hapmap]
rs1032982	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs10460572	1.00[CHB][hapmap]
rs10865391	1.00[CHB][hapmap]
rs11126366	1.00[ASN][1000 genomes]
rs11126370	1.00[CHB][hapmap]
rs11126373	1.00[CHB][hapmap]
rs11126374	1.00[CHB][hapmap]
rs11676555	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11677707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11679683	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11684985	1.00[CHB][hapmap]
rs11685114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs11686713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893504	0.90[EUR][1000 genomes]
rs12052508	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12471136	1.00[CHB][hapmap]
rs12471312	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476130	1.00[CHB][hapmap]
rs12476397	1.00[CHB][hapmap]
rs12617074	0.80[EUR][1000 genomes]
rs12618390	1.00[CHB][hapmap]
rs12713772	1.00[CHB][hapmap]
rs12713773	1.00[CHB][hapmap]
rs12713774	1.00[CHB][hapmap]
rs12992973	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996319	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs12996406	1.00[CHB][hapmap]
rs12998681	1.00[CHB][hapmap]
rs13006497	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs13008041	1.00[CHB][hapmap]
rs13008258	1.00[CHB][hapmap]
rs13011477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390754	1.00[ASN][1000 genomes]
rs1400581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400582	1.00[CHB][hapmap]
rs1446887	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs1446888	1.00[CHB][hapmap]
rs1446890	1.00[CHB][hapmap]
rs1446891	1.00[CHB][hapmap]
rs1446892	1.00[CHB][hapmap]
rs1446893	1.00[CHB][hapmap]
rs1446895	1.00[CHB][hapmap]
rs1446896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs1508061	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1517181	1.00[CHB][hapmap]
rs1517185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1596930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1596931	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1711838	1.00[CHB][hapmap]
rs1911690	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1947118	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048171	1.00[CHB][hapmap]
rs2138683	1.00[CHB][hapmap]
rs2203679	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2420444	1.00[ASN][1000 genomes]
rs2901146	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3115351	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4364045	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852291	1.00[CHB][hapmap]
rs4852292	1.00[CHB][hapmap]
rs4852293	1.00[CHB][hapmap]
rs4852294	0.90[EUR][1000 genomes]
rs4852298	1.00[CHB][hapmap]
rs4852872	1.00[CHB][hapmap]
rs4852873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852874	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852875	1.00[CHB][hapmap]
rs4852876	1.00[CHB][hapmap]
rs4852877	1.00[CHB][hapmap]
rs4852878	1.00[CHB][hapmap]
rs4852879	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4852880	1.00[CHB][hapmap]
rs4852883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852886	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs4852888	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4852889	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4852890	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4852891	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs583119	1.00[ASN][1000 genomes]
rs583673	1.00[CHB][hapmap]
rs584522	1.00[ASN][1000 genomes]
rs585653	1.00[CHB][hapmap]
rs585938	1.00[CHB][hapmap]
rs587744	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs589547	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs590252	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs590345	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs598138	1.00[ASN][1000 genomes]
rs598496	1.00[ASN][1000 genomes]
rs614653	1.00[CHB][hapmap]
rs620770	1.00[ASN][1000 genomes]
rs628432	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs630241	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs632670	1.00[CHB][hapmap]
rs634476	1.00[CHB][hapmap]
rs634574	1.00[CHB][hapmap]
rs634586	1.00[ASN][1000 genomes]
rs634929	1.00[CHB][hapmap]
rs636734	1.00[CHB][hapmap]
rs638854	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs640610	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs641123	1.00[CHB][hapmap]
rs641939	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs642652	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs645489	1.00[CHB][hapmap]
rs646357	1.00[CHB][hapmap]
rs647242	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs647269	1.00[CHB][hapmap]
rs650352	1.00[CHB][hapmap]
rs653220	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6546764	1.00[ASN][1000 genomes]
rs6546777	1.00[CHB][hapmap]
rs6546778	1.00[CHB][hapmap]
rs6546779	1.00[CHB][hapmap]
rs6546781	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs6546782	1.00[CHB][hapmap]
rs6546783	1.00[CHB][hapmap]
rs656370	1.00[CHB][hapmap]
rs656440	1.00[CHB][hapmap]
rs658067	1.00[CHB][hapmap]
rs659833	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs663218	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs666233	1.00[ASN][1000 genomes]
rs666361	1.00[CHB][hapmap]
rs668586	1.00[ASN][1000 genomes]
rs6708156	0.80[EUR][1000 genomes]
rs6714312	1.00[ASN][1000 genomes]
rs6714419	1.00[ASN][1000 genomes]
rs6714595	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs671721	1.00[CHB][hapmap]
rs6724529	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6742312	1.00[CHB][hapmap]
rs6747378	1.00[CHB][hapmap]
rs674863	1.00[CHB][hapmap]
rs6750766	1.00[CHB][hapmap]
rs6758593	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs678684	1.00[CHB][hapmap]
rs680380	1.00[CHB][hapmap]
rs680495	1.00[ASN][1000 genomes]
rs681574	1.00[CHB][hapmap]
rs683328	1.00[CHB][hapmap]
rs684673	1.00[CHB][hapmap]
rs687325	1.00[CHB][hapmap]
rs688433	1.00[CHB][hapmap]
rs689154	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7420588	1.00[ASN][1000 genomes]
rs7420667	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558686	1.00[ASN][1000 genomes]
rs7560529	1.00[CHB][hapmap]
rs7563738	1.00[ASN][1000 genomes]
rs7565198	1.00[CHB][hapmap]
rs7568803	1.00[ASN][1000 genomes]
rs7571064	1.00[CHB][hapmap]
rs7577238	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7580268	1.00[CHB][hapmap]
rs7588400	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs7591025	1.00[CHB][hapmap]
rs7591303	1.00[CHB][hapmap]
rs7594350	1.00[ASN][1000 genomes]
rs7595315	1.00[ASN][1000 genomes]
rs7598238	1.00[CHB][hapmap]
rs7600273	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601020	1.00[CHB][hapmap]
rs7601318	1.00[CHB][hapmap]
rs983928	1.00[CHB][hapmap]
rs990569	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72775000-72808800	Weak transcription	Ovary	ovary
2	chr2:72786000-72803800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr2:72789200-72803600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:72789800-72803600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:72790000-72804200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:72796400-72803800	Weak transcription	HUVEC	blood vessel
7	chr2:72797200-72806800	Enhancers	A549	lung
8	chr2:72799600-72807400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:72800000-72803600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:72800800-72803800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:72800800-72806000	Weak transcription	Fetal Heart	heart
12	chr2:72801000-72803800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr2:72801400-72803600	Weak transcription	Placenta	Placenta
14	chr2:72801800-72803600	Weak transcription	Fetal Lung	lung
15	chr2:72802200-72804600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:72802800-72804400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:72802800-72806600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:72803000-72804000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:72803000-72805600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:72803200-72804600	Enhancers	HSMM	muscle
21	chr2:72803200-72805000	Enhancers	Osteobl	bone
22	chr2:72803200-72805400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:72803400-72803800	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:72803400-72804000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:72803400-72804000	Enhancers	Adipose Nuclei	Adipose
26	chr2:72803400-72804200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:72803400-72804400	Enhancers	HSMMtube	muscle
28	chr2:72803400-72804400	Enhancers	NHLF	lung
29	chr2:72803400-72804600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:72803400-72804600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:72803400-72804600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:72803400-72804600	Enhancers	NH-A	brain
33	chr2:72803400-72804600	Enhancers	NHDF-Ad	bronchial

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