Variant report

Variant	rs7501770
Chromosome Location	chr17:46232276-46232277
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46231216..46232855-chr17:46246120..46247924,2	K562	blood:
2	chr17:46224844..46227376-chr17:46230087..46232594,2	MCF-7	breast:
3	chr17:46224894..46227721-chr17:46229708..46233601,3	MCF-7	breast:
4	chr17:46228679..46233044-chr17:46249536..46252436,3	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1002330	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10445339	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10445377	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10853098	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11079814	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11870056	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11872095	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12150533	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12452956	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12603115	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12941830	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12947089	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12948810	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1316657	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1377201	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1452666	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1452667	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17620033	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17681336	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1860862	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1860863	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2021752	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2021811	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2041572	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2060876	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs208005	0.81[ASN][1000 genomes]
rs208008	0.81[ASN][1000 genomes]
rs208009	0.81[ASN][1000 genomes]
rs208019	0.81[ASN][1000 genomes]
rs2109982	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2123341	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2278868	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2305433	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2325804	0.81[ASN][1000 genomes]
rs2938483	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34949267	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3792692	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3792694	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3805363	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3805370	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3805371	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3815472	0.81[ASN][1000 genomes]
rs3897986	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3944039	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4793779	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4794447	0.85[ASN][1000 genomes]
rs4794505	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4794517	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4794525	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55982346	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62066407	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62066447	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6504108	0.92[ASN][1000 genomes]
rs67446770	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7210149	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7213876	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7219967	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7220619	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7220768	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7220922	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7223867	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7225435	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7225550	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7225865	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs758999	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8069064	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8069263	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8072282	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8075270	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8079616	0.81[ASN][1000 genomes]
rs882380	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs954226	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46200400-46236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr17:46212400-46234800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr17:46216400-46251400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr17:46216600-46235600	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr17:46220800-46249000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:46221600-46238400	Weak transcription	Fetal Thymus	thymus
7	chr17:46222800-46234600	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr17:46226400-46234600	Strong transcription	Primary T cells from cord blood	blood
9	chr17:46227000-46233600	Weak transcription	Spleen	Spleen
10	chr17:46228000-46233200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:46228400-46236600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr17:46230200-46237400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:46230600-46232800	Enhancers	Liver	Liver
14	chr17:46230600-46245000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr17:46230800-46232400	Enhancers	Duodenum Mucosa	Duodenum
16	chr17:46230800-46232600	Enhancers	Fetal Intestine Large	intestine
17	chr17:46230800-46234200	Strong transcription	Thymus	Thymus
18	chr17:46231000-46236600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr17:46231000-46243800	Weak transcription	Primary B cells from cord blood	blood
20	chr17:46231400-46233200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr17:46231400-46234200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
22	chr17:46231600-46233200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:46231600-46233200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr17:46231600-46234400	Strong transcription	GM12878-XiMat	blood
25	chr17:46231800-46233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr17:46231800-46233600	Weak transcription	Fetal Kidney	kidney
27	chr17:46231800-46233800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr17:46231800-46233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:46231800-46235200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:46231800-46238200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:46232000-46233000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr17:46232000-46233000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:46232000-46233200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr17:46232000-46233200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr17:46232000-46233200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr17:46232000-46233800	Weak transcription	K562	blood
37	chr17:46232000-46236600	Weak transcription	A549	lung
38	chr17:46232000-46238000	Weak transcription	Pancreas	Pancrea
39	chr17:46232000-46239000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr17:46232000-46239800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr17:46232200-46233000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:46232200-46233200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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