Variant report

Variant	rs11604483
Chromosome Location	chr11:19144579-19144580
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	chr11:19133331..19136074-chr11:19143787..19145654,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10500841	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs10741761	0.94[ASW][hapmap];0.94[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs10766528	0.92[EUR][1000 genomes]
rs10833064	0.81[ASW][hapmap];0.94[CEU][hapmap];0.80[MKK][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes]
rs10833065	0.92[EUR][1000 genomes]
rs11025025	0.91[EUR][1000 genomes]
rs11025026	0.94[CEU][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs11025028	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11025037	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs11604471	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11607797	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs12270581	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs12273085	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12801321	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1393957	0.88[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap]
rs1503506	0.94[CEU][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1503507	0.93[CEU][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1503508	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1546327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2042687	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2042688	0.88[CEU][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs2134622	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs2271001	0.94[CEU][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes]
rs28891775	0.87[EUR][1000 genomes]
rs3802796	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs3802797	0.89[EUR][1000 genomes]
rs3802798	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4515942	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4756990	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4757757	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs4757758	0.88[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs4757759	0.89[EUR][1000 genomes]
rs4757760	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs7111105	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs7129212	0.81[ASW][hapmap];0.94[CEU][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs7129326	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7950603	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs7950788	0.92[EUR][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	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19139400-19144800	Weak transcription	Left Ventricle	heart
2	chr11:19139400-19147800	Weak transcription	Spleen	Spleen
3	chr11:19139400-19151400	Weak transcription	Aorta	Aorta
4	chr11:19139400-19156200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:19139400-19156200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:19139600-19144800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:19139600-19144800	Weak transcription	Psoas Muscle	Psoas
8	chr11:19139600-19146400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:19139600-19148200	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:19139600-19149200	Weak transcription	HSMM	muscle
11	chr11:19139600-19150400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:19139600-19153600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:19139600-19153800	Weak transcription	Ovary	ovary
14	chr11:19139600-19175000	Weak transcription	Pancreas	Pancrea
15	chr11:19139800-19146200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:19139800-19149200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:19139800-19153800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:19139800-19154200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:19139800-19155000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:19139800-19172000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:19140000-19146800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:19140000-19147000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:19140000-19148600	Weak transcription	Brain Anterior Caudate	brain
24	chr11:19140000-19148600	Weak transcription	HepG2	liver
25	chr11:19140000-19149200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:19140000-19153800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:19140000-19164800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:19140000-19167600	Weak transcription	HMEC	breast
29	chr11:19140000-19169600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:19140000-19186400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:19140200-19146400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:19140200-19149800	Weak transcription	Fetal Thymus	thymus
33	chr11:19140200-19175000	Weak transcription	Thymus	Thymus
34	chr11:19140400-19146600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:19140400-19146800	Weak transcription	Primary B cells from cord blood	blood
36	chr11:19140400-19152400	Weak transcription	Fetal Intestine Small	intestine
37	chr11:19140400-19153800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:19140600-19148200	Weak transcription	Primary T cells from cord blood	blood
39	chr11:19140600-19152800	Weak transcription	Fetal Lung	lung
40	chr11:19140600-19153600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr11:19140800-19186800	Weak transcription	Colonic Mucosa	Colon
42	chr11:19141200-19146800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr11:19141200-19148200	Weak transcription	NH-A	brain
44	chr11:19141200-19148800	Weak transcription	Fetal Brain Female	brain
45	chr11:19141200-19154000	Weak transcription	Esophagus	oesophagus
46	chr11:19141200-19155800	Weak transcription	Fetal Stomach	stomach
47	chr11:19141400-19144600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:19141400-19152000	Weak transcription	Fetal Intestine Large	intestine
49	chr11:19141600-19156200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:19141800-19145000	Weak transcription	Brain Cingulate Gyrus	brain

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