Variant report

Variant	rs12793497
Chromosome Location	chr11:108599993-108599994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10502103	0.90[GIH][hapmap];0.97[TSI][hapmap]
rs11212707	1.00[ASW][hapmap]
rs12574721	0.82[AMR][1000 genomes]
rs12574758	0.82[AMR][1000 genomes]
rs12575278	0.90[GIH][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes]
rs12785398	0.82[AMR][1000 genomes]
rs12790940	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12795663	0.88[AMR][1000 genomes]
rs12796331	1.00[ASW][hapmap];0.90[GIH][hapmap];0.97[TSI][hapmap]
rs12800516	0.82[AMR][1000 genomes]
rs12800726	1.00[TSI][hapmap]
rs12801974	1.00[TSI][hapmap]
rs12808674	0.86[GIH][hapmap];1.00[TSI][hapmap]
rs17108579	1.00[TSI][hapmap]
rs17108608	1.00[TSI][hapmap]
rs17108703	0.82[AMR][1000 genomes]
rs2553751	0.90[GIH][hapmap];1.00[TSI][hapmap]
rs2726896	1.00[TSI][hapmap]
rs34350110	0.82[AMR][1000 genomes]
rs34354308	0.82[AMR][1000 genomes]
rs34593113	0.82[AMR][1000 genomes]
rs898972	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108577600-108604400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:108578000-108604400	Weak transcription	Small Intestine	intestine
3	chr11:108578200-108604400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:108578800-108604000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:108578800-108604000	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:108578800-108604200	Weak transcription	NHLF	lung
7	chr11:108578800-108604600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:108578800-108614400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:108579200-108604000	Weak transcription	HUVEC	blood vessel
10	chr11:108579600-108600600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:108579800-108604200	Weak transcription	Psoas Muscle	Psoas
12	chr11:108580000-108603800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:108581000-108604200	Weak transcription	Fetal Heart	heart
14	chr11:108581200-108604200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:108581600-108626600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:108581800-108600000	Weak transcription	Aorta	Aorta
17	chr11:108581800-108600000	Weak transcription	Pancreas	Pancrea
18	chr11:108581800-108603200	Weak transcription	Gastric	stomach
19	chr11:108581800-108603200	Weak transcription	Lung	lung
20	chr11:108581800-108603400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:108581800-108603400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:108581800-108604000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:108581800-108604200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:108581800-108604200	Weak transcription	Spleen	Spleen
25	chr11:108581800-108609800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:108581800-108610800	Weak transcription	Thymus	Thymus
27	chr11:108581800-108611400	Weak transcription	Brain Substantia Nigra	brain
28	chr11:108581800-108616200	Weak transcription	Esophagus	oesophagus
29	chr11:108582000-108600000	Weak transcription	Brain Angular Gyrus	brain
30	chr11:108582200-108600000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:108583000-108610600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:108583200-108611600	Weak transcription	Fetal Lung	lung
33	chr11:108584400-108604200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:108584600-108600400	Weak transcription	NHDF-Ad	bronchial
35	chr11:108584800-108605600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:108585200-108604000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:108586200-108604400	Weak transcription	HepG2	liver
38	chr11:108587200-108608800	Weak transcription	Fetal Stomach	stomach
39	chr11:108588800-108604000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:108589000-108604200	Weak transcription	Fetal Intestine Small	intestine
41	chr11:108589000-108611800	Weak transcription	Fetal Intestine Large	intestine
42	chr11:108591400-108610600	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:108592000-108620000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:108594000-108604000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:108594000-108612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:108594200-108600400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:108594200-108600400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr11:108594200-108603200	Weak transcription	Left Ventricle	heart
49	chr11:108594200-108604200	Weak transcription	Ovary	ovary
50	chr11:108594200-108604200	Weak transcription	K562	blood

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