Variant report

Variant	rs2817730
Chromosome Location	chr6:24910598-24910599
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	chr6:24909068..24910634-chr6:24911078..24913760,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111913	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2474149	0.82[EUR][1000 genomes]
rs2493330	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2747680	0.82[EUR][1000 genomes]
rs2747681	0.82[EUR][1000 genomes]
rs2817721	0.82[EUR][1000 genomes]
rs2817734	0.90[ASN][1000 genomes]
rs62402041	0.94[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	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1019504	chr6:24869174-24994758	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr6:24905000-24910800	Weak transcription	Aorta	Aorta
2	chr6:24907800-24911200	Flanking Active TSS	GM12878-XiMat	blood
3	chr6:24908000-24910800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr6:24908000-24911200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr6:24908000-24912200	Active TSS	HSMMtube	muscle
6	chr6:24908200-24910800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr6:24908200-24911200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr6:24908200-24912600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:24908400-24911000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr6:24908600-24911000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:24908600-24913200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
12	chr6:24908600-24913600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
13	chr6:24908800-24910600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
14	chr6:24908800-24910600	Enhancers	Spleen	Spleen
15	chr6:24908800-24911000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:24908800-24911200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:24908800-24911600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr6:24909000-24910600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
19	chr6:24909000-24911800	Active TSS	Brain Angular Gyrus	brain
20	chr6:24909000-24913400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
21	chr6:24909200-24910800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:24909200-24910800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr6:24909200-24910800	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr6:24909200-24911800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr6:24909200-24912200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:24909400-24910600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:24909400-24910600	Enhancers	Esophagus	oesophagus
28	chr6:24909400-24910600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr6:24909400-24910800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
30	chr6:24909400-24910800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
31	chr6:24909400-24911000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:24909400-24911000	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr6:24909400-24911200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:24909400-24912000	Active TSS	Brain Cingulate Gyrus	brain
35	chr6:24909400-24912000	Active TSS	Rectal Smooth Muscle	rectum
36	chr6:24909600-24910600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:24909600-24910600	Enhancers	Gastric	stomach
38	chr6:24909600-24910600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:24909600-24911800	Active TSS	Brain Substantia Nigra	brain
40	chr6:24909600-24912400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:24909600-24912400	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:24909600-24913600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
43	chr6:24909600-24913600	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
44	chr6:24909600-24914200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
45	chr6:24909600-24918000	Weak transcription	Dnd41	blood
46	chr6:24909800-24910600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:24909800-24911400	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr6:24909800-24911600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr6:24909800-24911600	Active TSS	Brain Anterior Caudate	brain
50	chr6:24909800-24911600	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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