Variant report

Variant	rs2500077
Chromosome Location	chr6:14744343-14744344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:14736458..14739208-chr6:14742819..14744601,3	K562	blood:
2	chr6:14743112..14746025-chr6:14761526..14763688,5	MCF-7	breast:
3	chr6:14742305..14744752-chr6:15222484..15225143,3	MCF-7	breast:
4	chr6:14723271..14725963-chr6:14742702..14744914,2	MCF-7	breast:
5	chr1:144533874..144534529-chr6:14744077..14744583,2	HCT-116	colon:
6	chr6:14740809..14742542-chr6:14742789..14745610,2	K562	blood:
7	chr6:14726660..14728814-chr6:14743224..14745170,2	MCF-7	breast:
8	chr6:14741983..14744344-chr6:15066073..15067702,2	MCF-7	breast:
9	chr6:14744177..14745935-chr6:14757956..14760558,2	MCF-7	breast:
10	chr6:14742689..14745266-chr6:15089259..15092488,3	MCF-7	breast:
11	chr6:14689204..14691508-chr6:14742647..14744690,2	K562	blood:
12	chr6:14739993..14742172-chr6:14742805..14745724,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000201699	Chromatin interaction
ENSG00000234261	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1010703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1010704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1010705	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038015	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038016	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038017	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2472789	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2472790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472792	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472793	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2472794	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2472797	1.00[JPT][hapmap]
rs2472798	1.00[JPT][hapmap]
rs2500065	1.00[ASN][1000 genomes]
rs2500066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500068	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500070	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500074	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500075	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500078	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2500079	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4145445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4145447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4145448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4712240	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6903582	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6935110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743941	0.86[EUR][1000 genomes]
rs7744561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7766310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926242	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9367851	1.00[ASN][1000 genomes]
rs9370778	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382996	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382999	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9383000	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9396529	1.00[ASN][1000 genomes]
rs9396530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9396531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464714	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476648	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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	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
4	esv17333	chr6:14740872-14745737	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	esv3471679	chr6:14743273-14747671	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv511851	chr6:14743396-14745783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3471675	chr6:14744198-14746946	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14730200-14758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:14734000-14750600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:14737400-14758600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:14742000-14745200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:14742000-14746000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:14742200-14744800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:14742200-14745000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:14742600-14744600	Enhancers	NHDF-Ad	bronchial
9	chr6:14742800-14744600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:14743000-14744400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:14743000-14744400	Flanking Active TSS	Hela-S3	cervix
12	chr6:14743000-14744600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:14743000-14744600	Enhancers	GM12878-XiMat	blood
14	chr6:14743000-14744800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:14743200-14744400	Flanking Active TSS	Osteobl	bone
16	chr6:14743200-14744800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr6:14743200-14745400	Enhancers	Stomach Mucosa	stomach
18	chr6:14743400-14744600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:14743400-14744600	Flanking Active TSS	A549	lung
20	chr6:14743600-14744600	Enhancers	Primary T cells from cord blood	blood
21	chr6:14743600-14744600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:14743600-14744600	Enhancers	NHLF	lung
23	chr6:14743600-14745000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:14743600-14745000	Enhancers	Fetal Thymus	thymus
25	chr6:14743600-14767400	Weak transcription	Right Atrium	heart
26	chr6:14743800-14744400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:14743800-14744400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:14743800-14744600	Enhancers	Primary hematopoietic stem cells	blood
29	chr6:14743800-14744600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:14744000-14744400	Weak transcription	Placenta	Placenta
31	chr6:14744000-14744400	Enhancers	Thymus	Thymus
32	chr6:14744000-14744400	Flanking Active TSS	K562	blood
33	chr6:14744000-14744600	Enhancers	HSMM	muscle
34	chr6:14744200-14744400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:14744200-14744600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:14744200-14744600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr6:14744200-14744600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:14744200-14744600	Enhancers	HSMMtube	muscle
39	chr6:14744200-14745000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr6:14744200-14745000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:14744200-14745200	Enhancers	HMEC	breast
42	chr6:14744200-14745400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:14744200-14745800	Enhancers	NH-A	brain
44	chr6:14744200-14746000	Enhancers	NHEK	skin
45	chr6:14744200-14746600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:14744200-14747600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:14744200-14748000	Weak transcription	Monocytes-CD14+_RO01746	blood

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