Variant report

Variant	rs73985189
Chromosome Location	chr17:45798056-45798057
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45790758..45793292-chr17:45796969..45798828,2	K562	blood:
2	chr17:45795117..45799796-chr17:45800277..45805825,7	K562	blood:
3	chr17:45773054..45774558-chr17:45795596..45798236,2	K562	blood:
4	chr17:45794311..45798621-chr17:45808122..45812352,4	K562	blood:
5	chr17:45796425..45798903-chr17:45812592..45814679,2	MCF-7	breast:
6	chr17:45791653..45795324-chr17:45796790..45798883,4	MCF-7	breast:
7	chr17:45770757..45773621-chr17:45795683..45798746,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198933	Chromatin interaction
ENSG00000073861	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56239340	1.00[EUR][1000 genomes]
rs57483258	1.00[EUR][1000 genomes]
rs73319718	1.00[EUR][1000 genomes]
rs73985163	1.00[EUR][1000 genomes]
rs73985186	1.00[EUR][1000 genomes]
rs73988809	1.00[EUR][1000 genomes]
rs73988811	1.00[EUR][1000 genomes]
rs73988823	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73988830	1.00[EUR][1000 genomes]
rs73988840	1.00[EUR][1000 genomes]
rs73988847	1.00[EUR][1000 genomes]
rs73988853	1.00[EUR][1000 genomes]
rs8066161	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45788200-45799800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr17:45789400-45798400	Weak transcription	Gastric	stomach
3	chr17:45790000-45799800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr17:45790000-45810400	Weak transcription	Right Atrium	heart
5	chr17:45792400-45799200	Enhancers	Primary hematopoietic stem cells	blood
6	chr17:45793200-45800200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:45794200-45800200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr17:45794400-45798400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr17:45794400-45798600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:45794600-45798800	Bivalent Enhancer	NHLF	lung
11	chr17:45794600-45799000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr17:45794600-45799200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:45794600-45800000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr17:45794800-45798400	Bivalent Enhancer	Dnd41	blood
15	chr17:45795200-45798400	Enhancers	Spleen	Spleen
16	chr17:45795200-45799800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr17:45795400-45798200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:45795600-45798400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr17:45795800-45798800	Bivalent Enhancer	NHDF-Ad	bronchial
20	chr17:45796000-45798200	Weak transcription	Lung	lung
21	chr17:45796000-45798200	Weak transcription	Pancreas	Pancrea
22	chr17:45796200-45798200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr17:45796600-45798600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr17:45796800-45799600	Bivalent Enhancer	Fetal Thymus	thymus
25	chr17:45797000-45798200	Weak transcription	Primary B cells from cord blood	blood
26	chr17:45797000-45799000	Bivalent Enhancer	NH-A	brain
27	chr17:45797000-45799200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:45797000-45799200	Enhancers	GM12878-XiMat	blood
29	chr17:45797200-45798400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr17:45797200-45799000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr17:45797200-45799800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:45797200-45800000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:45797400-45798400	Weak transcription	Primary T cells from cord blood	blood
34	chr17:45797400-45798400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr17:45797400-45798800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
36	chr17:45797400-45799600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr17:45797600-45798600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr17:45797800-45798200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chr17:45797800-45798200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
40	chr17:45797800-45798200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr17:45797800-45798200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr17:45797800-45798400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr17:45797800-45798400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:45797800-45798400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr17:45797800-45798400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr17:45797800-45799000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr17:45798000-45798200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
48	chr17:45798000-45798200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr17:45798000-45798200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr17:45798000-45798200	Bivalent Enhancer	A549	lung

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