Variant report

Variant	rs4910153
Chromosome Location	chr11:10553355-10553356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10548650..10551746-chr11:10552608..10557430,5	K562	blood:
2	chr11:10545885..10548023-chr11:10551263..10555868,4	K562	blood:
3	chr11:10552304..10556337-chr11:10558208..10563308,9	K562	blood:

Variant related genes	Relation type
ENSG00000110315	Chromatin interaction
ENSG00000177112	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10219205	0.82[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs10437597	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10458931	0.83[MEX][hapmap]
rs10500726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1065052	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1074375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1074377	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10770123	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10840431	0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10840435	0.98[ASN][1000 genomes]
rs10840436	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840438	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs10840441	0.82[TSI][hapmap]
rs11042875	0.80[EUR][1000 genomes]
rs12277871	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279850	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1531479	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16907989	0.82[CEU][hapmap]
rs1870951	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1993817	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1993818	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1993819	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2054392	0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2071018	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs34466373	0.89[ASN][1000 genomes]
rs3741034	0.87[TSI][hapmap]
rs3741037	0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs3741038	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs3741039	0.84[ASN][1000 genomes]
rs3741041	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs3781863	0.98[ASN][1000 genomes]
rs4910146	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs6484344	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7941294	0.89[EUR][1000 genomes]
rs7951653	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1044011	chr11:10529353-10564450	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4910153	MRVI1	cis	multi-tissue	Pritchard
rs4910153	AMPD3	cis	cerebellum	SCAN
rs4910153	MICAL2	cis	parietal	SCAN
rs4910153	MRVI1	cis	normal skin	skin_eQTL
rs4910153	GALNTL4	cis	cerebellum	SCAN
rs4910153	SNORA45	cis	cerebellum	SCAN
rs4910153	RNF141	cis	parietal	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
2	chr11:10522400-10560800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:10525800-10555600	Strong transcription	Primary B cells from peripheral blood	blood
4	chr11:10526400-10561600	Weak transcription	Colonic Mucosa	Colon
5	chr11:10528400-10555800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:10533200-10561600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:10533200-10561600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:10533400-10561400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:10533800-10557400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:10535600-10556200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:10536400-10555600	Strong transcription	Primary B cells from cord blood	blood
12	chr11:10538200-10561600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:10538400-10561600	Weak transcription	Esophagus	oesophagus
14	chr11:10538400-10561600	Weak transcription	Lung	lung
15	chr11:10539400-10555800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr11:10540200-10553400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:10540200-10555400	Strong transcription	Liver	Liver
18	chr11:10540200-10555600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:10540400-10553600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:10540600-10554600	Strong transcription	Primary hematopoietic stem cells	blood
21	chr11:10540600-10555600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:10540800-10555200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr11:10541400-10561600	Weak transcription	Fetal Heart	heart
24	chr11:10541600-10561400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:10541600-10562000	Weak transcription	Gastric	stomach
26	chr11:10542200-10561600	Weak transcription	Fetal Stomach	stomach
27	chr11:10544200-10561400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:10544800-10554400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:10545600-10554600	Weak transcription	HepG2	liver
30	chr11:10546400-10555800	Strong transcription	Fetal Thymus	thymus
31	chr11:10546600-10555400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:10546800-10561400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:10548600-10553600	Strong transcription	Fetal Muscle Leg	muscle
34	chr11:10548600-10556200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr11:10549200-10561600	Weak transcription	Right Ventricle	heart
36	chr11:10549400-10555800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:10549400-10560800	Weak transcription	Aorta	Aorta
38	chr11:10549400-10560800	Weak transcription	HSMMtube	muscle
39	chr11:10549400-10561400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:10549400-10562000	Weak transcription	Spleen	Spleen
41	chr11:10549600-10554600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr11:10549600-10555800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:10549600-10555800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:10549600-10555800	Strong transcription	Fetal Intestine Large	intestine
45	chr11:10549600-10560600	Weak transcription	Hela-S3	cervix
46	chr11:10549600-10561400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:10549600-10561400	Weak transcription	Fetal Intestine Small	intestine
48	chr11:10550200-10553400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:10550400-10554600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr11:10551000-10561600	Weak transcription	Left Ventricle	heart

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