Variant report

Variant	rs4673377
Chromosome Location	chr2:208878629-208878630
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:208876466..208879121-chr2:208889459..208891203,2	MCF-7	breast:
2	chr2:208877938..208880285-chr2:208888473..208891306,2	MCF-7	breast:
3	chr2:208877025..208882031-chr2:208889273..208892174,4	K562	blood:

Variant related genes	Relation type
ENSG00000178385	Chromatin interaction

Extended variants
information (count: 140 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10192065	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10193505	0.91[EUR][1000 genomes]
rs10193523	0.91[EUR][1000 genomes]
rs10196408	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10198217	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10221788	0.87[JPT][hapmap]
rs1037416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10497891	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497894	0.87[EUR][1000 genomes]
rs10804164	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs10932217	0.82[JPT][hapmap]
rs10932218	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10932220	1.00[CEU][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10932221	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10932223	0.87[EUR][1000 genomes]
rs10932225	0.87[EUR][1000 genomes]
rs10932226	0.87[EUR][1000 genomes]
rs11676872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679374	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs11679492	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11687058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11688041	0.87[EUR][1000 genomes]
rs11688936	0.91[EUR][1000 genomes]
rs11692908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11694308	0.91[EUR][1000 genomes]
rs11891423	0.93[EUR][1000 genomes]
rs12465154	0.87[EUR][1000 genomes]
rs12469400	0.90[EUR][1000 genomes]
rs12612391	0.92[EUR][1000 genomes]
rs12694097	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13002375	0.82[EUR][1000 genomes]
rs13005382	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13006024	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13011597	0.95[ASN][1000 genomes]
rs13025100	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13387203	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13402422	0.95[JPT][hapmap]
rs13420900	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13421034	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1466185	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1545503	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16840362	0.93[EUR][1000 genomes]
rs16840390	0.91[EUR][1000 genomes]
rs16840392	0.91[EUR][1000 genomes]
rs17598650	0.91[EUR][1000 genomes]
rs17640827	0.89[YRI][hapmap]
rs1812697	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1965865	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2044971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2084870	0.93[EUR][1000 genomes]
rs2084871	0.93[EUR][1000 genomes]
rs2100348	0.93[EUR][1000 genomes]
rs2100349	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2100351	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2123294	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2123295	0.92[ASN][1000 genomes]
rs2362782	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2362783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2362786	0.93[EUR][1000 genomes]
rs2362788	0.90[EUR][1000 genomes]
rs2362789	0.91[EUR][1000 genomes]
rs2885599	0.92[EUR][1000 genomes]
rs2885600	0.91[EUR][1000 genomes]
rs34025579	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34329895	0.99[ASN][1000 genomes]
rs34335027	0.89[EUR][1000 genomes]
rs34354040	0.93[EUR][1000 genomes]
rs35086013	0.92[ASN][1000 genomes]
rs35594487	0.82[EUR][1000 genomes]
rs35687108	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35726860	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35735821	1.00[ASN][1000 genomes]
rs35783183	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35968595	0.91[EUR][1000 genomes]
rs3795911	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3795912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4021953	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4441448	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4507086	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4675722	0.93[EUR][1000 genomes]
rs4675723	0.91[EUR][1000 genomes]
rs4675724	0.91[EUR][1000 genomes]
rs4675725	0.91[EUR][1000 genomes]
rs4675726	0.91[EUR][1000 genomes]
rs56007263	0.91[EUR][1000 genomes]
rs56340702	0.91[EUR][1000 genomes]
rs56812613	0.89[EUR][1000 genomes]
rs60679550	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61116354	0.99[ASN][1000 genomes]
rs62190895	1.00[ASN][1000 genomes]
rs6435401	0.86[JPT][hapmap]
rs6435403	0.93[EUR][1000 genomes]
rs6435404	0.93[EUR][1000 genomes]
rs6711259	0.87[JPT][hapmap]
rs6712527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718363	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6723557	0.92[EUR][1000 genomes]
rs6730216	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs6731479	0.94[ASN][1000 genomes]
rs6733857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67351199	0.91[EUR][1000 genomes]
rs6741366	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67417299	0.93[EUR][1000 genomes]
rs6757323	0.93[EUR][1000 genomes]
rs6757327	0.92[EUR][1000 genomes]
rs7355275	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7559294	0.91[EUR][1000 genomes]
rs7559399	0.89[EUR][1000 genomes]
rs7560222	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7562306	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7570588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7573629	0.91[EUR][1000 genomes]
rs7582996	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7583013	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7585863	0.89[EUR][1000 genomes]
rs7592525	0.87[EUR][1000 genomes]
rs7593972	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7595734	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7595823	0.82[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7599531	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7604044	0.92[EUR][1000 genomes]
rs7608939	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7609209	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7609428	0.91[EUR][1000 genomes]
rs764299	0.97[EUR][1000 genomes]
rs896636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs921554	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs921555	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs930746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs966317	0.93[EUR][1000 genomes]
rs9679132	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9789442	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9789446	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9789586	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9789678	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208854200-208889400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:208856600-208882000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:208857200-208888000	Weak transcription	Fetal Brain Male	brain
4	chr2:208865200-208889000	Weak transcription	Brain Substantia Nigra	brain
5	chr2:208865400-208878800	Weak transcription	Brain Anterior Caudate	brain
6	chr2:208866200-208882400	Weak transcription	Aorta	Aorta
7	chr2:208866400-208882000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:208866400-208888200	Weak transcription	Ovary	ovary
9	chr2:208866600-208888200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:208866600-208889000	Weak transcription	Fetal Stomach	stomach
11	chr2:208866600-208889600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:208866800-208882400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:208866800-208884400	Weak transcription	Primary B cells from cord blood	blood
14	chr2:208866800-208885000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:208866800-208887200	Weak transcription	Fetal Brain Female	brain
16	chr2:208866800-208888200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:208866800-208889400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:208867000-208888200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:208867400-208882000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:208867400-208887800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:208867400-208889000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:208867400-208889200	Weak transcription	Primary T cells from cord blood	blood
23	chr2:208867600-208881000	Weak transcription	Gastric	stomach
24	chr2:208871800-208889000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:208871800-208889600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:208872400-208888200	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:208875600-208889000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:208876800-208880000	Enhancers	Fetal Intestine Large	intestine
29	chr2:208876800-208880800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:208877000-208879000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:208877000-208880000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:208877000-208881400	Enhancers	Fetal Intestine Small	intestine
33	chr2:208877200-208879000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:208877200-208879000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:208877200-208879000	Enhancers	Pancreas	Pancrea
36	chr2:208877200-208879200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:208877200-208879200	Enhancers	Adipose Nuclei	Adipose
38	chr2:208877200-208879200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr2:208877200-208879400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr2:208877200-208880000	Enhancers	Duodenum Mucosa	Duodenum
41	chr2:208877400-208878800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:208877400-208879000	Enhancers	HMEC	breast
43	chr2:208877600-208879400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:208877600-208882400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:208877600-208888200	Weak transcription	Psoas Muscle	Psoas
46	chr2:208877800-208878800	Weak transcription	Stomach Mucosa	stomach
47	chr2:208877800-208879200	Enhancers	HUVEC	blood vessel
48	chr2:208877800-208880600	Enhancers	HepG2	liver
49	chr2:208877800-208882600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:208877800-208888600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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