Variant report

Variant	rs10203916
Chromosome Location	chr2:11451984-11451985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11429835..11432089-chr2:11450828..11453411,2	K562	blood:
2	chr2:11444512..11447438-chr2:11450182..11452688,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10169455	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10175719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10178332	0.94[CEU][hapmap];0.82[AMR][1000 genomes]
rs10183296	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192593	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs10192994	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205944	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10206334	0.82[AMR][1000 genomes]
rs10210600	1.00[CEU][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10454126	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs10929732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11681822	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694729	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap]
rs11695377	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs12477052	0.86[ASN][1000 genomes]
rs12692434	1.00[CEU][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12692435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12692437	1.00[CEU][hapmap];0.87[GIH][hapmap];0.93[MEX][hapmap];0.83[YRI][hapmap]
rs12990641	0.87[CEU][hapmap]
rs12992581	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12994807	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13002722	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13014721	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13015560	0.87[CEU][hapmap]
rs13017021	0.87[CEU][hapmap]
rs1562748	1.00[CEU][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1562749	0.93[CEU][hapmap]
rs1868584	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1901011	0.84[AMR][1000 genomes]
rs2044758	0.93[CEU][hapmap]
rs2060635	0.90[AMR][1000 genomes]
rs2084577	1.00[CEU][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2122384	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2167126	0.82[AMR][1000 genomes]
rs2230775	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2290157	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2357995	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2357996	0.93[CEU][hapmap]
rs3771109	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3911110	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs4303693	0.94[CEU][hapmap];0.82[AMR][1000 genomes]
rs4353615	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4668720	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs4668721	0.81[AMR][1000 genomes]
rs4669701	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4669706	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669709	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4669710	1.00[CEU][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4669711	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4669713	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs4669715	0.93[CEU][hapmap]
rs55714132	0.94[ASN][1000 genomes]
rs57082519	0.94[ASN][1000 genomes]
rs57282107	0.94[ASN][1000 genomes]
rs57339546	0.94[ASN][1000 genomes]
rs57861284	0.94[ASN][1000 genomes]
rs58007526	1.00[ASN][1000 genomes]
rs58275781	0.85[ASN][1000 genomes]
rs59194382	1.00[ASN][1000 genomes]
rs59211791	0.94[ASN][1000 genomes]
rs59266229	0.94[ASN][1000 genomes]
rs59883361	1.00[ASN][1000 genomes]
rs60643530	0.94[ASN][1000 genomes]
rs61575329	1.00[ASN][1000 genomes]
rs62118012	0.94[AMR][1000 genomes]
rs6432183	0.93[CEU][hapmap]
rs6432184	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6432185	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6432186	1.00[CEU][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6706126	0.86[AMR][1000 genomes]
rs6710031	0.93[CEU][hapmap];0.82[AMR][1000 genomes]
rs6713273	0.83[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6713382	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6720821	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6721445	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs6730673	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs6732258	0.91[ASN][1000 genomes]
rs6733312	1.00[CEU][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes]
rs6735090	0.86[AMR][1000 genomes]
rs6736240	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6749456	1.00[CEU][hapmap];0.87[GIH][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6753875	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6755196	1.00[CEU][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6755337	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6759490	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs6760802	0.93[CEU][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap]
rs72785499	0.94[ASN][1000 genomes]
rs7355446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355489	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73915106	0.94[ASN][1000 genomes]
rs73915107	0.94[ASN][1000 genomes]
rs73915109	0.94[ASN][1000 genomes]
rs73915134	0.94[ASN][1000 genomes]
rs73915135	0.94[ASN][1000 genomes]
rs73915140	0.94[ASN][1000 genomes]
rs73915144	1.00[ASN][1000 genomes]
rs73915151	1.00[ASN][1000 genomes]
rs73915152	1.00[ASN][1000 genomes]
rs73915154	1.00[ASN][1000 genomes]
rs73915155	1.00[ASN][1000 genomes]
rs73915156	1.00[ASN][1000 genomes]
rs73915158	1.00[ASN][1000 genomes]
rs73915159	1.00[ASN][1000 genomes]
rs73915389	0.84[ASN][1000 genomes]
rs73915390	0.88[ASN][1000 genomes]
rs73915394	0.94[ASN][1000 genomes]
rs73915395	0.94[ASN][1000 genomes]
rs73915396	0.94[ASN][1000 genomes]
rs73917504	0.94[ASN][1000 genomes]
rs73917507	0.94[ASN][1000 genomes]
rs73917508	0.94[ASN][1000 genomes]
rs73917511	0.94[ASN][1000 genomes]
rs753770	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558664	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7563468	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7563928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568064	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs7575837	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7586803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7593091	0.83[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes]
rs9287728	0.93[CEU][hapmap]
rs965665	0.93[CEU][hapmap]
rs9712182	0.90[AMR][1000 genomes];0.97[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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10203916	IAH1	cis	cerebellum	SCAN
rs10203916	PQLC3	Cis_1M	lymphoblastoid	RTeQTL
rs10203916	ROCK2	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11424800-11455200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:11439200-11453000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:11444000-11458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:11444800-11454600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:11445000-11465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:11445400-11460200	Weak transcription	Left Ventricle	heart
7	chr2:11446200-11453200	Weak transcription	K562	blood
8	chr2:11447000-11454400	Weak transcription	Fetal Heart	heart
9	chr2:11447000-11456000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:11447000-11459800	Weak transcription	Fetal Kidney	kidney
11	chr2:11447000-11460000	Weak transcription	Ovary	ovary
12	chr2:11447000-11460200	Weak transcription	Fetal Lung	lung
13	chr2:11447200-11452600	Weak transcription	Fetal Stomach	stomach
14	chr2:11447200-11454400	Weak transcription	HSMM	muscle
15	chr2:11447200-11454600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:11447200-11456000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:11447200-11466200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:11448000-11454400	Weak transcription	NHDF-Ad	bronchial
19	chr2:11448000-11465800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:11449400-11452200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:11449400-11455400	Enhancers	HepG2	liver
22	chr2:11449600-11458800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:11449800-11452200	Enhancers	Liver	Liver
24	chr2:11450400-11452000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:11450400-11454800	Weak transcription	Osteobl	bone
26	chr2:11450400-11455200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:11450600-11466600	Weak transcription	NHLF	lung
28	chr2:11450800-11452200	Enhancers	A549	lung
29	chr2:11451000-11452200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:11451000-11454400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:11451200-11452000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:11451200-11454400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:11451200-11454400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:11451200-11455800	Weak transcription	Fetal Intestine Small	intestine
35	chr2:11451200-11460000	Weak transcription	Adipose Nuclei	Adipose
36	chr2:11451400-11452000	Enhancers	Psoas Muscle	Psoas
37	chr2:11451400-11452000	Enhancers	Small Intestine	intestine
38	chr2:11451400-11452200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr2:11451400-11461000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:11451600-11467000	Weak transcription	Primary B cells from cord blood	blood
41	chr2:11451800-11452000	Enhancers	Aorta	Aorta
42	chr2:11451800-11452800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:11451800-11454800	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:11451800-11455800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:11451800-11466000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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