Variant report

Variant	rs17619730
Chromosome Location	chr6:15257883-15257884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:15256517..15259439-chr6:15263746..15265326,2	MCF-7	breast:
2	chr6:15256926..15259356-chr6:15400388..15402043,2	K562	blood:

Variant related genes	Relation type
ENSG00000008083	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10949291	0.81[ASN][1000 genomes]
rs10949295	0.82[CEU][hapmap]
rs11751391	0.90[ASN][1000 genomes]
rs11759040	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11759478	0.82[CEU][hapmap]
rs12192599	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12198692	1.00[JPT][hapmap]
rs12198694	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs12199895	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs12204124	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12206745	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12209228	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs12209539	0.81[ASN][1000 genomes]
rs12210592	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12215596	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17575737	0.82[CEU][hapmap]
rs17619838	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs17637773	0.82[CEU][hapmap]
rs17687211	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs17713010	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28505073	0.95[ASN][1000 genomes]
rs62397308	0.82[ASN][1000 genomes]
rs62397310	0.82[ASN][1000 genomes]
rs6919296	1.00[JPT][hapmap]
rs6938919	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs72834551	0.81[ASN][1000 genomes]
rs7765425	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830594	chr6:15171158-15261296	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15250000-15262000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr6:15250200-15259200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:15250400-15258600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr6:15250400-15259200	Weak transcription	HMEC	breast
5	chr6:15251200-15279400	Weak transcription	A549	lung
6	chr6:15252400-15260000	Genic enhancers	Fetal Thymus	thymus
7	chr6:15253200-15262000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr6:15253200-15262200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:15253200-15269600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr6:15253600-15261600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr6:15253600-15262200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:15253800-15258400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:15253800-15261600	Enhancers	Brain Anterior Caudate	brain
14	chr6:15253800-15262000	Enhancers	Brain Cingulate Gyrus	brain
15	chr6:15254000-15258200	Genic enhancers	K562	blood
16	chr6:15254000-15261800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:15254000-15262000	Enhancers	Brain Hippocampus Middle	brain
18	chr6:15254200-15269600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:15254400-15259800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:15254600-15263200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:15254600-15264800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:15254800-15258200	Weak transcription	NHDF-Ad	bronchial
23	chr6:15254800-15259000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:15254800-15259000	Weak transcription	NH-A	brain
25	chr6:15254800-15260200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:15254800-15262800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:15254800-15264200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:15254800-15269800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:15255000-15261200	Enhancers	Fetal Muscle Leg	muscle
30	chr6:15255200-15258800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:15255200-15261600	Weak transcription	Placenta	Placenta
32	chr6:15255400-15258800	Enhancers	HSMMtube	muscle
33	chr6:15255400-15259600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr6:15255400-15261200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:15255600-15258000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:15255800-15258000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
37	chr6:15255800-15258000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr6:15255800-15258400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:15255800-15259800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr6:15256000-15258000	Enhancers	Fetal Brain Female	brain
41	chr6:15256000-15258200	Enhancers	Fetal Lung	lung
42	chr6:15256000-15258200	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr6:15256000-15259600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:15256000-15261600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:15256000-15261600	Enhancers	Brain Substantia Nigra	brain
46	chr6:15256000-15262000	Enhancers	HSMM	muscle
47	chr6:15256000-15264600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:15256200-15258000	Enhancers	Colon Smooth Muscle	Colon
49	chr6:15256200-15259000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:15256200-15259200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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