Variant report

Variant	rs7947406
Chromosome Location	chr11:108132164-108132165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1442729	0.82[AFR][1000 genomes]
rs2234994	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2235001	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3092856	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4987926	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4987929	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4987956	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4987968	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4988011	0.82[ASN][1000 genomes]
rs7119429	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv556430	chr11:108097333-108175462	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv898385	chr11:108123189-108165736	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108147400	Weak transcription	Esophagus	oesophagus
2	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:108096000-108148600	Weak transcription	Fetal Heart	heart
4	chr11:108096400-108156400	Weak transcription	NHLF	lung
5	chr11:108099800-108139000	Weak transcription	Hela-S3	cervix
6	chr11:108104200-108147400	Weak transcription	Gastric	stomach
7	chr11:108104600-108144000	Weak transcription	Lung	lung
8	chr11:108108200-108144200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:108108400-108184800	Weak transcription	NHEK	skin
10	chr11:108108800-108147600	Weak transcription	Psoas Muscle	Psoas
11	chr11:108113800-108147200	Weak transcription	Aorta	Aorta
12	chr11:108115000-108132800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr11:108117400-108132200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:108118200-108132200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:108118600-108132200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:108118600-108140200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:108118800-108133000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:108119600-108132200	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:108121200-108132800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr11:108122000-108142200	Weak transcription	Right Ventricle	heart
21	chr11:108122000-108147400	Weak transcription	Spleen	Spleen
22	chr11:108124000-108132200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:108124600-108132200	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:108124600-108132800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:108125400-108132200	Strong transcription	Fetal Stomach	stomach
26	chr11:108126000-108142000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:108126000-108153600	Weak transcription	HUVEC	blood vessel
28	chr11:108126200-108157600	Weak transcription	HMEC	breast
29	chr11:108126800-108149200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:108128400-108132200	Strong transcription	Fetal Intestine Small	intestine
31	chr11:108128800-108140400	Weak transcription	Small Intestine	intestine
32	chr11:108128800-108142600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:108129000-108143200	Weak transcription	Ovary	ovary
34	chr11:108129000-108145800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:108129000-108148000	Weak transcription	Pancreas	Pancrea
36	chr11:108129000-108155400	Weak transcription	HSMMtube	muscle
37	chr11:108129200-108142000	Weak transcription	Fetal Kidney	kidney
38	chr11:108129400-108133000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:108129400-108142200	Weak transcription	Brain Angular Gyrus	brain
40	chr11:108129600-108137800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:108129600-108142000	Weak transcription	Brain Anterior Caudate	brain
42	chr11:108129600-108142000	Weak transcription	Fetal Brain Male	brain
43	chr11:108129800-108137800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:108129800-108139200	Weak transcription	Adipose Nuclei	Adipose
45	chr11:108129800-108139600	Weak transcription	HepG2	liver
46	chr11:108129800-108141800	Weak transcription	K562	blood
47	chr11:108129800-108142000	Weak transcription	Brain Substantia Nigra	brain
48	chr11:108129800-108146600	Weak transcription	Colonic Mucosa	Colon
49	chr11:108129800-108147400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:108130000-108139000	Weak transcription	NHDF-Ad	bronchial

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