Variant report

Variant	rs2350633
Chromosome Location	chr17:17587395-17587396
allele	A/G
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:1)
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	chr17:17584474..17587446-chr17:17720269..17722303,2	K562	blood:
2	chr17:17586455..17590031-chr17:17707371..17710346,3	MCF-7	breast:
3	chr17:17581707..17587972-chr17:17684185..17691006,14	MCF-7	breast:
4	chr17:17583640..17587401-chr17:17713270..17717474,6	MCF-7	breast:
5	chr17:17585064..17587457-chr17:17712160..17714917,4	K562	blood:
6	chr17:17582541..17589441-chr17:17738170..17742091,10	K562	blood:
7	chr17:17584674..17588119-chr17:17738170..17742427,6	K562	blood:
8	chr17:17583171..17587600-chr17:17683205..17687633,5	MCF-7	breast:
9	chr17:17580850..17587926-chr17:17737733..17744809,17	MCF-7	breast:
10	chr17:17584818..17588540-chr17:17752581..17756325,4	K562	blood:
11	chr17:17321553..17324468-chr17:17587073..17589435,2	MCF-7	breast:
12	chr17:17585146..17587854-chr17:17712160..17713787,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MED9-4	chr17:17586860-17588364	NONHSAT146100

No data

Variant related genes	Relation type
ENSG00000072310	Chromatin interaction
ENSG00000108557	Chromatin interaction
ENSG00000207839	Chromatin interaction
ENSG00000175662	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12940014	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12952237	0.85[ASN][1000 genomes]
rs1869771	0.85[ASN][1000 genomes]
rs2001884	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2350632	0.82[EUR][1000 genomes]
rs4496218	0.91[EUR][1000 genomes]
rs4924807	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4925095	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4925102	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4925104	0.83[EUR][1000 genomes]
rs4925105	0.83[EUR][1000 genomes]
rs6502613	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214245	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7224617	0.84[EUR][1000 genomes]
rs7224619	0.82[EUR][1000 genomes]
rs7225934	0.82[EUR][1000 genomes]
rs897457	0.83[EUR][1000 genomes]
rs9897309	0.83[EUR][1000 genomes]
rs9897596	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9899445	0.81[AMR][1000 genomes]
rs9904468	0.84[EUR][1000 genomes]
rs9906532	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
8	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
11	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
12	nsv543239	chr17:17580295-17599851	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv907755	chr17:17581184-17610587	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17586000-17587400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr17:17586400-17587400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr17:17586400-17587400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:17586400-17588800	Enhancers	Fetal Brain Male	brain
5	chr17:17586600-17587400	Flanking Active TSS	Hela-S3	cervix
6	chr17:17586600-17587400	Flanking Active TSS	HMEC	breast
7	chr17:17586600-17587400	Flanking Active TSS	NHEK	skin
8	chr17:17586600-17590800	Enhancers	Stomach Mucosa	stomach
9	chr17:17586800-17587400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:17586800-17587400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr17:17586800-17587400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:17586800-17587400	Enhancers	Ovary	ovary
13	chr17:17586800-17587400	Enhancers	Pancreas	Pancrea
14	chr17:17586800-17587400	Enhancers	Spleen	Spleen
15	chr17:17586800-17587400	Enhancers	HUVEC	blood vessel
16	chr17:17586800-17587600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:17586800-17587600	Enhancers	Brain Substantia Nigra	brain
18	chr17:17586800-17587800	Enhancers	Fetal Thymus	thymus
19	chr17:17586800-17588200	Enhancers	Primary B cells from peripheral blood	blood
20	chr17:17586800-17588400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:17586800-17589200	Enhancers	Fetal Lung	lung
22	chr17:17586800-17590600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr17:17586800-17591000	Enhancers	Esophagus	oesophagus
24	chr17:17586800-17591000	Enhancers	Fetal Heart	heart
25	chr17:17587000-17587400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:17587000-17587400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr17:17587000-17587400	Enhancers	Primary T cells from cord blood	blood
28	chr17:17587000-17587400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr17:17587000-17587400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr17:17587000-17587400	Enhancers	Brain Anterior Caudate	brain
31	chr17:17587000-17587400	Enhancers	Brain Hippocampus Middle	brain
32	chr17:17587000-17587400	Bivalent Enhancer	Placenta	Placenta
33	chr17:17587000-17587400	Genic enhancers	Fetal Stomach	stomach
34	chr17:17587000-17587400	Enhancers	Right Ventricle	heart
35	chr17:17587000-17587400	Enhancers	K562	blood
36	chr17:17587000-17587600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr17:17587000-17587600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr17:17587000-17587600	Enhancers	Adipose Nuclei	Adipose
39	chr17:17587000-17587600	Enhancers	Small Intestine	intestine
40	chr17:17587000-17587800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr17:17587000-17588000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr17:17587000-17588200	Weak transcription	Gastric	stomach
43	chr17:17587000-17588200	Enhancers	Stomach Smooth Muscle	stomach
44	chr17:17587000-17588400	Weak transcription	Fetal Kidney	kidney
45	chr17:17587000-17588600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr17:17587000-17589000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr17:17587000-17589200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr17:17587000-17589400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr17:17587000-17590400	Enhancers	Fetal Intestine Large	intestine
50	chr17:17587000-17590400	Enhancers	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links