Variant report

Variant	rs1939383
Chromosome Location	chr11:73179426-73179427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10898921	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235736	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235772	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235783	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235784	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235786	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235787	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235789	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235790	1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235791	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235792	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235796	1.00[ASW][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235802	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235803	0.89[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11235807	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235810	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235811	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235816	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417351	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417890	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417977	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418558	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421012	1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132126	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310347	0.81[CEU][hapmap]
rs1808095	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3087498	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34493385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55885773	0.91[EUR][1000 genomes]
rs56277844	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56375530	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56394842	0.98[EUR][1000 genomes]
rs57225667	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60203229	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61018857	0.97[EUR][1000 genomes];1.00[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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv508641	chr11:73149281-73235528	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73123800-73209600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:73131000-73190000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:73141800-73181400	Weak transcription	Dnd41	blood
4	chr11:73141800-73183000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:73141800-73231600	Weak transcription	Thymus	Thymus
6	chr11:73148000-73182000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:73151000-73187000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:73155600-73181200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:73156000-73187800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:73161200-73180600	Weak transcription	Fetal Lung	lung
11	chr11:73163600-73179800	Weak transcription	Aorta	Aorta
12	chr11:73163600-73180000	Weak transcription	Fetal Brain Female	brain
13	chr11:73163600-73180800	Weak transcription	Fetal Intestine Small	intestine
14	chr11:73163800-73225600	Weak transcription	Fetal Stomach	stomach
15	chr11:73165200-73186600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:73168600-73189800	Weak transcription	Hela-S3	cervix
17	chr11:73170400-73185800	Weak transcription	HepG2	liver
18	chr11:73172800-73218800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:73173600-73181200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr11:73173800-73184400	Weak transcription	Spleen	Spleen
21	chr11:73174200-73186800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:73174600-73187800	Weak transcription	Primary T cells from cord blood	blood
23	chr11:73175000-73179600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:73175800-73179800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:73176000-73180600	Enhancers	Adipose Nuclei	Adipose
26	chr11:73176000-73180600	Enhancers	Brain Hippocampus Middle	brain
27	chr11:73176000-73180600	Enhancers	Brain Substantia Nigra	brain
28	chr11:73176200-73180400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:73176400-73186600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:73177000-73179800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:73177000-73189800	Weak transcription	Fetal Heart	heart
32	chr11:73177400-73180000	Weak transcription	HSMMtube	muscle
33	chr11:73177400-73180600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:73177400-73180600	Weak transcription	HSMM	muscle
35	chr11:73177400-73181200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:73177400-73189800	Weak transcription	HMEC	breast
37	chr11:73177400-73190000	Weak transcription	Osteobl	bone
38	chr11:73177400-73191400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:73177400-73191800	Weak transcription	NHDF-Ad	bronchial
40	chr11:73177600-73186800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:73178000-73179800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr11:73178000-73180400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr11:73178000-73180600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:73178000-73184600	Weak transcription	Fetal Thymus	thymus
45	chr11:73178200-73179600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:73178200-73180000	Strong transcription	Primary B cells from cord blood	blood
47	chr11:73178400-73180200	Enhancers	Right Ventricle	heart
48	chr11:73178400-73181800	Enhancers	Left Ventricle	heart
49	chr11:73178400-73182200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:73178400-73182200	Enhancers	Psoas Muscle	Psoas

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