Variant report

Variant	rs2500065
Chromosome Location	chr6:14736591-14736592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:14734617..14737417-chr6:14746915..14749390,2	MCF-7	breast:
2	chr6:14733899..14736788-chr6:14776742..14779427,2	K562	blood:
3	chr6:14719823..14724151-chr6:14733005..14736892,4	K562	blood:
4	chr6:14734009..14737295-chr6:14739247..14741023,4	K562	blood:
5	chr6:14736385..14738922-chr6:14772601..14775464,2	K562	blood:
6	chr6:14736458..14739208-chr6:14742819..14744601,3	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1010703	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1010704	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1010705	1.00[ASN][1000 genomes]
rs2038015	1.00[ASN][1000 genomes]
rs2038016	1.00[ASN][1000 genomes]
rs2038017	0.94[ASW][hapmap];0.81[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.99[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2472790	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2472791	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2472792	1.00[ASN][1000 genomes]
rs2472794	0.93[ASN][1000 genomes]
rs2472797	1.00[JPT][hapmap]
rs2472798	1.00[JPT][hapmap]
rs2500066	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2500067	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2500068	1.00[ASN][1000 genomes]
rs2500070	1.00[ASN][1000 genomes]
rs2500071	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2500074	1.00[ASN][1000 genomes]
rs2500075	1.00[ASN][1000 genomes]
rs2500076	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2500077	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4145445	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4145447	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4145448	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4712240	1.00[ASN][1000 genomes]
rs4715922	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6459373	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6459374	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6459375	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6903582	1.00[ASN][1000 genomes]
rs6919669	1.00[JPT][hapmap]
rs6935110	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7744561	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7766310	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs926242	1.00[JPT][hapmap]
rs9367851	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370778	1.00[ASN][1000 genomes]
rs9382996	1.00[ASN][1000 genomes]
rs9382999	1.00[ASN][1000 genomes]
rs9383000	1.00[ASN][1000 genomes]
rs9396529	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9396530	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9396531	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9464714	1.00[ASN][1000 genomes]
rs9476648	1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][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	nsv462641	chr6:14203872-14764983	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv600997	chr6:14203872-14764983	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1023685	chr6:14514647-14838390	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14728200-14736600	Enhancers	Primary T cells from cord blood	blood
2	chr6:14728200-14740000	Enhancers	Fetal Thymus	thymus
3	chr6:14729400-14743400	Weak transcription	Adipose Nuclei	Adipose
4	chr6:14730000-14740400	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:14730200-14758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:14730600-14740200	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:14731200-14740200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:14731400-14736600	Enhancers	Thymus	Thymus
9	chr6:14731600-14736600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr6:14732000-14737800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:14732800-14736600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr6:14733000-14740400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:14733200-14743400	Weak transcription	Esophagus	oesophagus
14	chr6:14734000-14737200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:14734000-14750600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:14734200-14737800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr6:14734600-14736800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:14734600-14737200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:14735000-14736800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:14735000-14737400	Enhancers	Primary B cells from cord blood	blood
21	chr6:14735000-14742000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:14735200-14736600	Enhancers	Spleen	Spleen
23	chr6:14735400-14740000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:14735600-14736600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:14735600-14740600	Weak transcription	NHEK	skin
26	chr6:14735800-14737400	Enhancers	GM12878-XiMat	blood
27	chr6:14735800-14739200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:14735800-14742800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:14735800-14742800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:14736000-14738600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:14736000-14738800	Weak transcription	NHDF-Ad	bronchial
32	chr6:14736000-14742200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:14736000-14742200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:14736200-14736600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:14736200-14736600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr6:14736200-14737400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:14736200-14739200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:14736400-14736800	Enhancers	K562	blood
39	chr6:14736400-14737600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr6:14736400-14738000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:14736400-14739000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:14736400-14739200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:14736400-14741800	Weak transcription	HMEC	breast

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