Variant report

Variant	rs373759
Chromosome Location	chr11:108220657-108220658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108211210..108215011-chr11:108219991..108223823,4	K562	blood:
2	chr11:108220484..108223102-chr11:108223127..108224993,2	K562	blood:

Variant related genes	Relation type
ENSG00000149311	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10789659	0.82[JPT][hapmap]
rs10890834	0.82[JPT][hapmap]
rs11212592	0.86[JPT][hapmap]
rs11212617	0.89[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs11212672	1.00[ASW][hapmap];0.84[CEU][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs113995	0.82[JPT][hapmap]
rs1150201	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12226046	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs1583598	0.82[JPT][hapmap]
rs170548	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];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs172896	0.82[JPT][hapmap]
rs172927	0.89[JPT][hapmap]
rs179110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs186593	0.81[JPT][hapmap]
rs186595	0.82[JPT][hapmap]
rs227040	0.82[JPT][hapmap]
rs227041	0.82[JPT][hapmap]
rs227055	0.82[JPT][hapmap]
rs227058	0.82[JPT][hapmap]
rs227060	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227061	0.82[JPT][hapmap]
rs227062	0.82[JPT][hapmap]
rs227064	0.82[JPT][hapmap]
rs227068	0.82[JPT][hapmap]
rs227069	0.81[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs227070	0.82[JPT][hapmap]
rs227072	0.82[JPT][hapmap]
rs227073	0.82[JPT][hapmap]
rs227074	0.82[JPT][hapmap]
rs227075	0.82[JPT][hapmap]
rs227077	0.82[JPT][hapmap]
rs227087	0.82[JPT][hapmap]
rs227092	0.82[JPT][hapmap]
rs228590	0.82[JPT][hapmap]
rs228591	0.85[JPT][hapmap]
rs228592	0.82[JPT][hapmap]
rs228593	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs228599	0.82[JPT][hapmap]
rs228606	0.81[CHD][hapmap];0.81[GIH][hapmap]
rs2356801	0.89[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs374443	0.82[JPT][hapmap]
rs419716	0.82[JPT][hapmap]
rs425538	0.82[JPT][hapmap]
rs4615991	0.87[CEU][hapmap]
rs4753833	0.82[JPT][hapmap]
rs5023001	0.82[JPT][hapmap]
rs590972	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs595747	0.82[JPT][hapmap]
rs597788	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];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs599164	0.82[JPT][hapmap]
rs599406	0.82[JPT][hapmap]
rs599558	0.82[JPT][hapmap]
rs600931	0.82[JPT][hapmap]
rs609655	0.82[JPT][hapmap]
rs611646	1.00[JPT][hapmap]
rs61915106	0.90[ASN][1000 genomes]
rs620613	0.82[JPT][hapmap]
rs627418	0.81[JPT][hapmap]
rs641605	0.82[JPT][hapmap]
rs652311	0.82[JPT][hapmap]
rs652541	0.82[JPT][hapmap]
rs662218	0.82[JPT][hapmap]
rs662578	0.82[JPT][hapmap]
rs664143	0.82[JPT][hapmap]
rs665293	0.94[AFR][1000 genomes]
rs672655	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs673281	0.82[JPT][hapmap]
rs694376	0.82[JPT][hapmap]
rs7931930	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs7943063	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs920679	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs9667658	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs373759	RGS21	trans	parietal	SCAN
rs373759	NPAT	cis	cerebellum	SCAN
rs373759	ACAT1	cis	Skin Sun Exposed Lower leg	GTEx
rs373759	ACAT1	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:108145800-108235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:108148200-108225600	Weak transcription	Esophagus	oesophagus
4	chr11:108148600-108225600	Weak transcription	Gastric	stomach
5	chr11:108176400-108225400	Weak transcription	Right Ventricle	heart
6	chr11:108182400-108220800	Weak transcription	Aorta	Aorta
7	chr11:108182400-108222200	Weak transcription	Pancreas	Pancrea
8	chr11:108182400-108223800	Weak transcription	Small Intestine	intestine
9	chr11:108192000-108222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:108192200-108225400	Weak transcription	Brain Angular Gyrus	brain
11	chr11:108193800-108224600	Weak transcription	Fetal Heart	heart
12	chr11:108195400-108226200	Strong transcription	Primary T cells from cord blood	blood
13	chr11:108200400-108224600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:108200600-108222000	Weak transcription	Spleen	Spleen
15	chr11:108200600-108222200	Weak transcription	Fetal Intestine Small	intestine
16	chr11:108201400-108221200	Weak transcription	Fetal Brain Male	brain
17	chr11:108202200-108225200	Weak transcription	Colonic Mucosa	Colon
18	chr11:108202800-108221200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:108203000-108222000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:108203200-108224400	Weak transcription	Psoas Muscle	Psoas
21	chr11:108207000-108221800	Weak transcription	Lung	lung
22	chr11:108207000-108224400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:108207000-108225400	Weak transcription	Fetal Kidney	kidney
24	chr11:108207400-108224400	Weak transcription	Fetal Brain Female	brain
25	chr11:108207400-108234000	Weak transcription	NHLF	lung
26	chr11:108207600-108222000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:108207600-108222200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:108207600-108222200	Weak transcription	NH-A	brain
29	chr11:108207600-108222400	Weak transcription	Brain Substantia Nigra	brain
30	chr11:108207800-108220800	Weak transcription	NHDF-Ad	bronchial
31	chr11:108207800-108224400	Weak transcription	HSMMtube	muscle
32	chr11:108208000-108220800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:108208000-108224400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:108208000-108224800	Weak transcription	HUVEC	blood vessel
35	chr11:108208200-108225000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:108208400-108221400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:108208400-108222000	Weak transcription	Brain Germinal Matrix	brain
38	chr11:108209400-108222000	Weak transcription	Fetal Stomach	stomach
39	chr11:108209400-108225600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:108211000-108224400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:108212000-108224400	Weak transcription	K562	blood
42	chr11:108212000-108236000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:108212000-108236600	Weak transcription	Stomach Mucosa	stomach
44	chr11:108212200-108222000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:108212200-108241400	Weak transcription	Hela-S3	cervix
46	chr11:108212400-108221400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:108212400-108224400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:108212600-108222200	Weak transcription	NHEK	skin
49	chr11:108212600-108225400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:108212800-108238000	Weak transcription	HMEC	breast

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