Variant report

Variant	rs2299056
Chromosome Location	chr6:15389734-15389735
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15211485..15213299-chr6:15388946..15391826,2	K562	blood:
2	chr6:15210476..15213974-chr6:15388595..15391826,3	K562	blood:
3	chr6:15384835..15386815-chr6:15389020..15391947,2	K562	blood:
4	chr6:15384704..15386815-chr6:15387580..15390520,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2237140	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs2237154	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237155	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2237156	0.91[CHB][hapmap]
rs2237158	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs2299053	0.87[CHB][hapmap]
rs2299054	0.91[CHB][hapmap]
rs4109434	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs9370813	0.87[CHB][hapmap]
rs9383054	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1019927	chr6:15351240-15419257	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv538145	chr6:15351240-15419257	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15364600-15390200	Weak transcription	HepG2	liver
2	chr6:15365000-15402800	Weak transcription	Dnd41	blood
3	chr6:15376800-15390000	Weak transcription	Aorta	Aorta
4	chr6:15378600-15390400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:15379400-15390000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr6:15380800-15389800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:15381600-15390400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr6:15382600-15393400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:15384000-15389800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:15384200-15390000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr6:15384400-15390800	Enhancers	Fetal Thymus	thymus
12	chr6:15384800-15390800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:15385000-15390800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr6:15385000-15391800	Enhancers	Primary T cells from cord blood	blood
15	chr6:15385200-15398400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:15385400-15393000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:15385600-15390200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:15385600-15390600	Weak transcription	Gastric	stomach
19	chr6:15386000-15390600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:15386200-15390400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:15386800-15389800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:15386800-15390200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:15386800-15390600	Weak transcription	NHEK	skin
24	chr6:15387000-15391000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:15387000-15391800	Weak transcription	HMEC	breast
26	chr6:15387200-15389800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:15387200-15390600	Weak transcription	A549	lung
28	chr6:15387200-15392400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:15387800-15390200	Weak transcription	NH-A	brain
30	chr6:15387800-15390400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:15387800-15399200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:15388000-15390600	Enhancers	Primary B cells from cord blood	blood
33	chr6:15388000-15399200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr6:15388800-15390400	Enhancers	K562	blood
35	chr6:15388800-15391000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:15388800-15391200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr6:15388800-15392200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:15388800-15392400	Enhancers	Fetal Lung	lung
39	chr6:15388800-15393000	Enhancers	Primary B cells from peripheral blood	blood
40	chr6:15388800-15393000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr6:15388800-15393000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:15388800-15393000	Enhancers	Brain Cingulate Gyrus	brain
43	chr6:15389000-15389800	Enhancers	Stomach Smooth Muscle	stomach
44	chr6:15389000-15390000	Enhancers	Colon Smooth Muscle	Colon
45	chr6:15389000-15390000	Enhancers	Fetal Heart	heart
46	chr6:15389000-15390000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr6:15389000-15390200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:15389000-15390200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr6:15389000-15390400	Enhancers	H9 Cell Line	embryonic stem cell
50	chr6:15389000-15390600	Enhancers	Primary T helper cells fromperipheralblood	blood

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