Variant report

Variant	rs56160247
Chromosome Location	chr17:17787880-17787881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17778338..17781042-chr17:17785624..17789074,3	MCF-7	breast:
2	chr17:17784478..17786421-chr17:17786800..17790376,3	MCF-7	breast:
3	chr17:17787825..17790342-chr17:17885834..17888273,2	K562	blood:
4	chr17:17752798..17755283-chr17:17787327..17789643,2	K562	blood:
5	chr17:17787613..17790063-chr17:17793245..17795199,3	MCF-7	breast:
6	chr17:17729263..17731317-chr17:17786553..17789397,2	K562	blood:
7	chr17:17783400..17786089-chr17:17787251..17789927,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175662	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs16960767	1.00[AMR][1000 genomes]
rs16960818	1.00[AMR][1000 genomes]
rs2274893	1.00[ASN][1000 genomes]
rs3737122	0.82[ASN][1000 genomes]
rs3744114	1.00[ASN][1000 genomes]
rs3785497	0.98[ASN][1000 genomes]
rs56054716	1.00[AMR][1000 genomes]
rs56153053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56232485	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56928492	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57082481	1.00[AMR][1000 genomes]
rs57134764	1.00[EUR][1000 genomes]
rs57277459	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57791826	1.00[AMR][1000 genomes]
rs58116638	1.00[EUR][1000 genomes]
rs58219643	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58376085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58676524	1.00[AMR][1000 genomes]
rs58936409	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58970292	1.00[EUR][1000 genomes]
rs59713490	0.80[ASN][1000 genomes]
rs61050785	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61060916	1.00[AMR][1000 genomes]
rs61188141	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61256737	1.00[AMR][1000 genomes]
rs7218054	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7218246	1.00[AMR][1000 genomes]
rs7218594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7221934	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7224621	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297834	1.00[AMR][1000 genomes]
rs73297855	1.00[AMR][1000 genomes]
rs73297868	1.00[AMR][1000 genomes]
rs73299861	1.00[AMR][1000 genomes]
rs73299873	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73299892	1.00[AMR][1000 genomes]
rs73301827	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301859	1.00[AMR][1000 genomes]
rs73301894	1.00[AMR][1000 genomes]
rs73303812	1.00[AMR][1000 genomes]
rs73303813	1.00[AMR][1000 genomes]
rs73303833	1.00[AMR][1000 genomes]
rs73303840	1.00[EUR][1000 genomes]
rs73303844	1.00[EUR][1000 genomes]
rs73303854	1.00[AMR][1000 genomes]
rs73303856	1.00[AMR][1000 genomes]
rs73303857	1.00[AMR][1000 genomes]
rs73305952	1.00[AMR][1000 genomes]
rs73979211	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73979217	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73981076	1.00[AMR][1000 genomes]
rs8066528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8066865	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8067146	1.00[EUR][1000 genomes]
rs8068860	1.00[EUR][1000 genomes]
rs8078368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8078811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914362	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' 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
8	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
11	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
12	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
13	nsv907761	chr17:17649423-17802478	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
14	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription 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 miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
15	nsv907762	chr17:17668071-17802478	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
16	nsv907765	chr17:17682484-17802478	Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
17	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
18	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17756800-17789600	Weak transcription	Small Intestine	intestine
2	chr17:17764200-17803000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr17:17764400-17799600	Weak transcription	A549	lung
4	chr17:17767600-17807400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:17768400-17792200	Weak transcription	GM12878-XiMat	blood
6	chr17:17769200-17789400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr17:17769200-17804600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:17769400-17792400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr17:17769600-17795200	Strong transcription	Primary T cells from cord blood	blood
10	chr17:17776400-17803200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:17778000-17788600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:17778000-17789000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr17:17778000-17789400	Strong transcription	Thymus	Thymus
14	chr17:17778200-17796200	Weak transcription	Hela-S3	cervix
15	chr17:17778600-17788800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:17778600-17793400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr17:17778800-17789000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr17:17779000-17788600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr17:17779200-17788000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr17:17779800-17791400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:17780000-17788600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr17:17780800-17788800	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr17:17781000-17788400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr17:17781000-17802600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:17781600-17810600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr17:17782000-17788000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr17:17782000-17788400	Strong transcription	Osteobl	bone
28	chr17:17782000-17788600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr17:17782000-17788600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:17782000-17788600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:17782000-17788600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr17:17782000-17788600	Strong transcription	Fetal Intestine Large	intestine
33	chr17:17782000-17788600	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr17:17782000-17789600	Strong transcription	NHEK	skin
35	chr17:17782200-17788600	Strong transcription	Rectal Smooth Muscle	rectum
36	chr17:17782200-17789000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:17782200-17789800	Strong transcription	Fetal Intestine Small	intestine
38	chr17:17782200-17801600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr17:17782200-17803800	Weak transcription	Stomach Mucosa	stomach
40	chr17:17782200-17817000	Weak transcription	Fetal Kidney	kidney
41	chr17:17782400-17788400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:17782400-17788800	Strong transcription	Gastric	stomach
43	chr17:17782400-17790600	Strong transcription	NHLF	lung
44	chr17:17782600-17796800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr17:17783000-17788400	Strong transcription	Pancreas	Pancrea
46	chr17:17783000-17802200	Weak transcription	Dnd41	blood
47	chr17:17783000-17808200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr17:17783200-17789800	Weak transcription	Fetal Heart	heart
49	chr17:17783200-17798400	Weak transcription	NH-A	brain
50	chr17:17783400-17788800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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