Variant report

Variant	rs56978264
Chromosome Location	chr2:64187159-64187160
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64183197..64185119-chr2:64186153..64188187,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10496104	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884555	1.00[ASN][1000 genomes]
rs11896894	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11899693	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17028239	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17028275	1.00[ASN][1000 genomes]
rs17028316	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17028343	0.90[AFR][1000 genomes]
rs17028348	0.85[AFR][1000 genomes]
rs17028356	0.85[AFR][1000 genomes]
rs2033864	1.00[ASN][1000 genomes]
rs36085609	0.80[AFR][1000 genomes]
rs4277507	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4470330	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4517960	1.00[ASN][1000 genomes]
rs55977137	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56053068	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56155077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56674285	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56677212	0.87[AFR][1000 genomes]
rs56683028	1.00[ASN][1000 genomes]
rs57085982	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57101313	0.88[AFR][1000 genomes]
rs57202709	0.87[AFR][1000 genomes]
rs57252448	0.88[EUR][1000 genomes]
rs57936760	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58074696	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58198691	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58297806	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58732522	1.00[ASN][1000 genomes]
rs58889204	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58982089	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59156176	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59335889	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59736629	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60044466	1.00[ASN][1000 genomes]
rs60350159	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60847776	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61383573	0.89[AFR][1000 genomes]
rs61389158	0.84[AFR][1000 genomes]
rs61486417	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62136393	0.81[AFR][1000 genomes]
rs62136397	0.82[AFR][1000 genomes]
rs62136398	0.82[AFR][1000 genomes]
rs62136400	0.82[AFR][1000 genomes]
rs62136402	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62136407	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136423	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136425	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136429	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62136436	0.82[EUR][1000 genomes]
rs62136446	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62136447	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136457	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136458	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136459	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73935051	0.86[AFR][1000 genomes]
rs7420692	1.00[ASN][1000 genomes]
rs7558570	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002209	chr2:64160385-64238475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
2	chr2:64129600-64201000	Weak transcription	Hela-S3	cervix
3	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
4	chr2:64137400-64204800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:64140400-64187600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:64140400-64188800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:64141200-64187600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:64141400-64189200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:64142800-64189200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:64154400-64202600	Weak transcription	Spleen	Spleen
12	chr2:64154600-64202600	Weak transcription	Pancreas	Pancrea
13	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
14	chr2:64159600-64197800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:64159600-64211600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:64163200-64207600	Weak transcription	HUVEC	blood vessel
17	chr2:64165600-64193600	Weak transcription	NHLF	lung
18	chr2:64165800-64202600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:64166800-64202600	Weak transcription	HMEC	breast
20	chr2:64168400-64198000	Weak transcription	Fetal Heart	heart
21	chr2:64168600-64188000	Weak transcription	NH-A	brain
22	chr2:64168600-64202600	Weak transcription	Esophagus	oesophagus
23	chr2:64168600-64202600	Weak transcription	K562	blood
24	chr2:64168800-64192800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:64168800-64195000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr2:64168800-64204800	Weak transcription	Psoas Muscle	Psoas
27	chr2:64169000-64189200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:64169000-64215000	Weak transcription	Brain Angular Gyrus	brain
29	chr2:64171800-64194000	Weak transcription	NHEK	skin
30	chr2:64173600-64188600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:64173600-64189200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:64173600-64202800	Weak transcription	Fetal Brain Female	brain
33	chr2:64173800-64188000	Weak transcription	GM12878-XiMat	blood
34	chr2:64175200-64203000	Weak transcription	Thymus	Thymus
35	chr2:64175400-64189200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:64175400-64193800	Weak transcription	Right Ventricle	heart
37	chr2:64175600-64188000	Weak transcription	Adipose Nuclei	Adipose
38	chr2:64175600-64188600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:64175600-64213000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:64175800-64196200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:64175800-64196400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:64175800-64197800	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:64175800-64199600	Weak transcription	Fetal Stomach	stomach
44	chr2:64175800-64202800	Weak transcription	Gastric	stomach
45	chr2:64176000-64187600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:64176000-64197600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:64176000-64202600	Weak transcription	Lung	lung
48	chr2:64176000-64204600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:64176000-64228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:64176200-64189200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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