Variant report

Variant	rs2271264
Chromosome Location	chr17:46507417-46507418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10514944	0.82[AMR][1000 genomes]
rs1396869	0.93[ASN][1000 genomes]
rs16955960	0.82[AMR][1000 genomes]
rs16956001	0.82[AMR][1000 genomes]
rs16956501	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16957085	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16957299	0.88[ASN][1000 genomes]
rs17623125	0.82[AMR][1000 genomes]
rs17623416	0.82[AMR][1000 genomes]
rs17623518	0.82[AMR][1000 genomes]
rs17695179	0.82[AMR][1000 genomes]
rs2175156	0.82[AMR][1000 genomes]
rs34463696	0.87[ASN][1000 genomes]
rs3809744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55641965	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55751709	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55765969	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55912545	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56011283	0.83[ASN][1000 genomes]
rs56093336	0.82[AMR][1000 genomes]
rs56103412	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56151068	0.82[AMR][1000 genomes]
rs56311919	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56371910	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72827825	0.82[AMR][1000 genomes]
rs72827848	0.82[AMR][1000 genomes]
rs72827851	0.82[AMR][1000 genomes]
rs72827869	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72827873	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827897	0.93[ASN][1000 genomes]
rs9899997	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9907565	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9913716	0.87[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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv2761960	chr17:46504489-46529846	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46503800-46507600	Active TSS	Primary T cells fromperipheralblood	blood
2	chr17:46505000-46507600	Active TSS	Thymus	Thymus
3	chr17:46505000-46508000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr17:46505400-46507600	Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr17:46505400-46507800	Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr17:46505600-46508200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:46505800-46507800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:46505800-46507800	Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr17:46506000-46507600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:46506000-46507800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:46506000-46510200	Weak transcription	K562	blood
12	chr17:46506400-46507800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
13	chr17:46506400-46508000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:46506400-46508000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
15	chr17:46506400-46508000	Flanking Active TSS	Fetal Thymus	thymus
16	chr17:46506600-46507600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr17:46506600-46507600	Bivalent/Poised TSS	Small Intestine	intestine
18	chr17:46506600-46507800	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr17:46506600-46507800	Active TSS	Primary T cells from cord blood	blood
20	chr17:46506600-46507800	Bivalent/Poised TSS	Esophagus	oesophagus
21	chr17:46506600-46507800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
22	chr17:46506600-46508000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:46506600-46508200	Enhancers	Gastric	stomach
24	chr17:46506800-46507600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
25	chr17:46506800-46507600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr17:46506800-46507600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:46506800-46507600	Bivalent/Poised TSS	Fetal Stomach	stomach
28	chr17:46506800-46507800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr17:46506800-46508000	Bivalent Enhancer	Fetal Brain Male	brain
30	chr17:46506800-46508200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
31	chr17:46507000-46507600	Flanking Bivalent TSS/Enh	Sigmoid Colon	Sigmoid Colon
32	chr17:46507000-46507600	Flanking Active TSS	Spleen	Spleen
33	chr17:46507000-46507800	Active TSS	GM12878-XiMat	blood
34	chr17:46507000-46508000	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr17:46507000-46508000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr17:46507000-46508200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr17:46507200-46507600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
38	chr17:46507200-46507600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:46507200-46507600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr17:46507200-46507600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
41	chr17:46507200-46507600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
42	chr17:46507200-46507600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
43	chr17:46507200-46507800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr17:46507200-46507800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr17:46507200-46507800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr17:46507200-46507800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr17:46507200-46507800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
48	chr17:46507200-46508000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr17:46507200-46508000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr17:46507200-46508000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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