Variant report

Variant	rs7126300
Chromosome Location	chr11:35024849-35024850
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10488807	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16926653	0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16926689	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16926697	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34582941	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6484744	1.00[AMR][1000 genomes]
rs6484745	1.00[AMR][1000 genomes]
rs6484747	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104984	0.85[YRI][hapmap]
rs7105901	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7106038	1.00[AMR][1000 genomes]
rs7109473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7109857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7117023	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7117719	0.83[AMR][1000 genomes]
rs7121982	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7123595	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7123633	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7126403	1.00[AMR][1000 genomes]
rs7936015	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7941932	1.00[AMR][1000 genomes]
rs7947018	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9666748	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv430371	chr11:34975067-35111292	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv1826391	chr11:35000983-35098193	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv897215	chr11:35009233-35048359	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34985200-35026600	Weak transcription	Colonic Mucosa	Colon
2	chr11:35000600-35035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:35000800-35031000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:35007000-35026600	Weak transcription	Fetal Intestine Small	intestine
5	chr11:35007000-35028000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:35007000-35029800	Weak transcription	Esophagus	oesophagus
7	chr11:35007200-35035200	Weak transcription	Fetal Stomach	stomach
8	chr11:35007400-35026600	Weak transcription	Fetal Intestine Large	intestine
9	chr11:35007400-35026800	Weak transcription	Fetal Brain Female	brain
10	chr11:35007400-35027800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr11:35008600-35025200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:35008600-35026600	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:35008600-35026600	Weak transcription	Pancreas	Pancrea
14	chr11:35008600-35030800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:35009000-35025200	Weak transcription	Aorta	Aorta
16	chr11:35009000-35028000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:35009400-35026600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:35009400-35026800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:35011200-35025000	Weak transcription	NH-A	brain
20	chr11:35011400-35028200	Weak transcription	HSMMtube	muscle
21	chr11:35011600-35026800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:35016600-35025000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:35016800-35026600	Weak transcription	Liver	Liver
24	chr11:35016800-35026800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:35017200-35030800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:35019800-35035400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:35020000-35025000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:35020000-35028000	Weak transcription	Small Intestine	intestine
29	chr11:35020000-35030400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:35020200-35026600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:35020200-35028200	Weak transcription	Fetal Lung	lung
32	chr11:35020200-35028400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:35020200-35029800	Weak transcription	NHDF-Ad	bronchial
34	chr11:35020400-35025000	Weak transcription	Osteobl	bone
35	chr11:35020600-35025200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:35021400-35026600	Weak transcription	Stomach Mucosa	stomach
37	chr11:35021400-35026600	Weak transcription	NHEK	skin
38	chr11:35021400-35029400	Weak transcription	Hela-S3	cervix
39	chr11:35021800-35025000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:35021800-35026800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:35022000-35026800	Weak transcription	Left Ventricle	heart
42	chr11:35022000-35027400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:35022000-35028000	Weak transcription	Gastric	stomach
44	chr11:35024400-35025600	Enhancers	GM12878-XiMat	blood
45	chr11:35024400-35025800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:35024600-35025000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:35024600-35025000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:35024600-35025400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr11:35024600-35025400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:35024600-35025400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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