Variant report

Variant	rs2582759
Chromosome Location	chr2:191124098-191124099
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191121741..191124203-chr2:191135219..191137552,2	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10173593	0.85[EUR][1000 genomes]
rs10183133	0.83[EUR][1000 genomes]
rs10188044	0.86[EUR][1000 genomes]
rs10191068	0.83[EUR][1000 genomes]
rs10196013	0.85[EUR][1000 genomes]
rs10196351	0.86[EUR][1000 genomes]
rs10200496	0.86[EUR][1000 genomes]
rs10209516	0.82[EUR][1000 genomes]
rs10209984	0.83[EUR][1000 genomes]
rs1058180	0.80[AMR][1000 genomes]
rs1058227	0.82[EUR][1000 genomes]
rs1058230	0.82[EUR][1000 genomes]
rs10931448	0.81[EUR][1000 genomes]
rs1114863	0.82[EUR][1000 genomes]
rs11216	0.83[EUR][1000 genomes]
rs11542	0.82[EUR][1000 genomes]
rs11683763	0.84[EUR][1000 genomes]
rs11689666	0.85[EUR][1000 genomes]
rs11695166	0.85[EUR][1000 genomes]
rs11883568	0.86[EUR][1000 genomes]
rs11888626	0.86[EUR][1000 genomes]
rs11894667	0.82[EUR][1000 genomes]
rs11894766	0.83[EUR][1000 genomes]
rs13010589	0.83[EUR][1000 genomes]
rs13011138	0.85[EUR][1000 genomes]
rs13405019	0.84[EUR][1000 genomes]
rs13415995	0.83[EUR][1000 genomes]
rs13416673	0.83[EUR][1000 genomes]
rs1366672	0.85[EUR][1000 genomes]
rs1583878	0.82[EUR][1000 genomes]
rs16832456	0.86[EUR][1000 genomes]
rs176712	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1866849	0.82[EUR][1000 genomes]
rs1866850	0.81[EUR][1000 genomes]
rs1972288	0.83[EUR][1000 genomes]
rs2099128	0.86[EUR][1000 genomes]
rs2099129	0.86[EUR][1000 genomes]
rs2136567	0.82[EUR][1000 genomes]
rs2244075	0.86[EUR][1000 genomes]
rs2244076	0.86[EUR][1000 genomes]
rs2256301	0.81[EUR][1000 genomes]
rs2271270	0.83[EUR][1000 genomes]
rs2303827	0.86[EUR][1000 genomes]
rs2353890	0.83[EUR][1000 genomes]
rs2562796	0.86[EUR][1000 genomes]
rs2582738	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2582740	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2582742	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2582745	0.80[AMR][1000 genomes]
rs2582747	0.80[AMR][1000 genomes]
rs2582757	0.85[EUR][1000 genomes]
rs2582760	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582762	0.86[EUR][1000 genomes]
rs2582763	0.86[EUR][1000 genomes]
rs2582769	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2582771	0.84[EUR][1000 genomes]
rs2582772	0.82[EUR][1000 genomes]
rs2582773	0.82[EUR][1000 genomes]
rs2664241	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664242	0.84[EUR][1000 genomes]
rs2664243	0.81[EUR][1000 genomes]
rs2664244	0.82[EUR][1000 genomes]
rs2664246	0.81[EUR][1000 genomes]
rs2664247	0.82[EUR][1000 genomes]
rs2664249	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2664255	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2664256	0.80[AMR][1000 genomes]
rs2664261	0.80[AMR][1000 genomes]
rs2664264	0.84[EUR][1000 genomes]
rs2664266	0.81[EUR][1000 genomes]
rs2664267	0.81[EUR][1000 genomes]
rs2664269	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2664272	0.86[EUR][1000 genomes]
rs2664273	0.85[EUR][1000 genomes]
rs2664274	0.86[EUR][1000 genomes]
rs2664275	0.86[EUR][1000 genomes]
rs2664276	0.84[EUR][1000 genomes]
rs2664277	0.86[EUR][1000 genomes]
rs28887221	0.85[EUR][1000 genomes]
rs291402	0.86[EUR][1000 genomes]
rs291403	0.86[EUR][1000 genomes]
rs291404	0.86[EUR][1000 genomes]
rs291405	0.86[EUR][1000 genomes]
rs291407	0.86[EUR][1000 genomes]
rs291409	0.86[EUR][1000 genomes]
rs291410	0.86[EUR][1000 genomes]
rs291411	0.85[EUR][1000 genomes]
rs291412	0.86[EUR][1000 genomes]
rs291413	0.86[EUR][1000 genomes]
rs291414	0.86[EUR][1000 genomes]
rs291415	0.86[EUR][1000 genomes]
rs291418	0.85[EUR][1000 genomes]
rs291419	0.85[EUR][1000 genomes]
rs291420	0.85[EUR][1000 genomes]
rs291421	0.81[EUR][1000 genomes]
rs291422	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs291423	0.85[EUR][1000 genomes]
rs291424	0.85[EUR][1000 genomes]
rs291425	0.85[EUR][1000 genomes]
rs291426	0.85[EUR][1000 genomes]
rs291455	0.80[AMR][1000 genomes]
rs2941092	0.81[EUR][1000 genomes]
rs2966470	0.80[EUR][1000 genomes]
rs34760043	0.83[EUR][1000 genomes]
rs3749015	0.82[EUR][1000 genomes]
rs3749016	0.82[EUR][1000 genomes]
rs3762548	0.83[EUR][1000 genomes]
rs3791788	0.83[EUR][1000 genomes]
rs3791789	0.83[EUR][1000 genomes]
rs3791790	0.83[EUR][1000 genomes]
rs3791791	0.85[EUR][1000 genomes]
rs3815961	0.83[EUR][1000 genomes]
rs3828269	0.83[EUR][1000 genomes]
rs4853503	0.86[EUR][1000 genomes]
rs4853685	0.82[EUR][1000 genomes]
rs4853687	0.83[EUR][1000 genomes]
rs4853688	0.85[EUR][1000 genomes]
rs56853355	0.83[EUR][1000 genomes]
rs57110838	0.82[EUR][1000 genomes]
rs66738092	0.83[EUR][1000 genomes]
rs6720060	0.85[EUR][1000 genomes]
rs6737514	0.86[EUR][1000 genomes]
rs6737846	0.83[EUR][1000 genomes]
rs6749512	0.85[EUR][1000 genomes]
rs6751238	0.83[EUR][1000 genomes]
rs6751588	0.83[EUR][1000 genomes]
rs6753459	0.83[EUR][1000 genomes]
rs713425	0.86[EUR][1000 genomes]
rs713426	0.86[EUR][1000 genomes]
rs72625301	0.83[EUR][1000 genomes]
rs7371399	0.80[EUR][1000 genomes]
rs7371409	0.84[EUR][1000 genomes]
rs7562807	0.83[EUR][1000 genomes]
rs7565423	0.83[EUR][1000 genomes]
rs7566380	0.85[EUR][1000 genomes]
rs7569296	0.83[EUR][1000 genomes]
rs7573689	0.86[EUR][1000 genomes]
rs7574028	0.86[EUR][1000 genomes]
rs7574495	0.83[EUR][1000 genomes]
rs7580863	0.86[EUR][1000 genomes]
rs7582209	0.86[EUR][1000 genomes]
rs7583250	0.83[EUR][1000 genomes]
rs7590942	0.83[EUR][1000 genomes]
rs7602400	0.85[EUR][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	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv875620	chr2:191100723-191141593	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv875621	chr2:191117120-191177131	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2582759	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs2582759	HIBCH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:191056800-191131800	Weak transcription	NHEK	skin
3	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
4	chr2:191089000-191128800	Weak transcription	Gastric	stomach
5	chr2:191099400-191131800	Weak transcription	HMEC	breast
6	chr2:191100000-191150400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:191100400-191128000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:191104400-191151000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:191105000-191180000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:191106200-191132200	Weak transcription	Hela-S3	cervix
11	chr2:191106600-191131800	Weak transcription	NHLF	lung
12	chr2:191107400-191150600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:191107800-191125600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:191108000-191129400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:191108200-191129200	Weak transcription	Spleen	Spleen
16	chr2:191108200-191135400	Weak transcription	Right Ventricle	heart
17	chr2:191108200-191180000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:191108800-191124600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:191109600-191126600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:191109600-191128000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:191109600-191135800	Weak transcription	Fetal Brain Female	brain
22	chr2:191109800-191132800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:191109800-191163000	Weak transcription	Brain Germinal Matrix	brain
24	chr2:191110000-191145400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:191111200-191124400	Strong transcription	Primary T cells from cord blood	blood
26	chr2:191112800-191126000	Strong transcription	Dnd41	blood
27	chr2:191114800-191124200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:191115600-191162200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:191115600-191182000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:191115800-191126400	Weak transcription	Fetal Heart	heart
31	chr2:191116200-191124200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:191116200-191131800	Weak transcription	HUVEC	blood vessel
33	chr2:191116200-191131800	Weak transcription	NHDF-Ad	bronchial
34	chr2:191116400-191135200	Weak transcription	K562	blood
35	chr2:191116600-191183200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:191117000-191126400	Weak transcription	Psoas Muscle	Psoas
37	chr2:191117000-191126400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:191117000-191128200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:191117200-191125400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:191117400-191183600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:191118000-191126800	Strong transcription	Liver	Liver
42	chr2:191118600-191132000	Weak transcription	NH-A	brain
43	chr2:191118800-191124400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr2:191118800-191125800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:191119600-191126800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:191120200-191125400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:191120200-191125600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:191120200-191125600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr2:191120600-191125800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:191121000-191132000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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