Variant report

Variant	rs331470
Chromosome Location	chr11:36475976-36475977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:36475226-36478437	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
PRR5L	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1365119	1.00[AMR][1000 genomes]
rs230484	1.00[AMR][1000 genomes]
rs331448	1.00[AMR][1000 genomes]
rs331468	1.00[AMR][1000 genomes]
rs331469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs331471	1.00[AMR][1000 genomes]
rs331474	1.00[AMR][1000 genomes]
rs331476	1.00[AMR][1000 genomes]
rs331481	1.00[AMR][1000 genomes]
rs331483	1.00[AMR][1000 genomes]
rs7948430	1.00[AMR][1000 genomes]
rs890260	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1046452	chr11:36460958-36503079	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv518499	chr11:36466814-36479789	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 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	chr11:36464400-36478800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:36467800-36478800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:36469200-36480200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:36470200-36476600	Weak transcription	Psoas Muscle	Psoas
5	chr11:36470400-36477800	Genic enhancers	Fetal Intestine Small	intestine
6	chr11:36470600-36482800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:36470800-36478000	Genic enhancers	Fetal Intestine Large	intestine
8	chr11:36471000-36476400	Enhancers	Fetal Thymus	thymus
9	chr11:36471000-36476400	Genic enhancers	Rectal Mucosa Donor 29	rectum
10	chr11:36471200-36478000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:36471600-36478400	Genic enhancers	Rectal Mucosa Donor 31	rectum
12	chr11:36471800-36506800	Weak transcription	Gastric	stomach
13	chr11:36471800-36506800	Weak transcription	Pancreas	Pancrea
14	chr11:36472000-36476400	Weak transcription	Fetal Brain Female	brain
15	chr11:36472000-36477800	Enhancers	Fetal Lung	lung
16	chr11:36472600-36477600	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:36472800-36476000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:36473000-36488000	Weak transcription	Liver	Liver
19	chr11:36473200-36478200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:36473200-36505600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:36473400-36476600	Enhancers	Dnd41	blood
22	chr11:36473400-36477000	Enhancers	HSMM	muscle
23	chr11:36473400-36477600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:36473400-36477600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:36473600-36476000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:36473600-36478200	Enhancers	Osteobl	bone
27	chr11:36473600-36478600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:36473600-36478800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:36473600-36478800	Enhancers	Placenta	Placenta
30	chr11:36473800-36476200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:36473800-36476400	Genic enhancers	Spleen	Spleen
32	chr11:36473800-36477000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:36473800-36478200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:36473800-36478600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:36473800-36478600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:36473800-36478600	Enhancers	Right Atrium	heart
37	chr11:36473800-36478800	Enhancers	Ovary	ovary
38	chr11:36474000-36476000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:36474000-36476200	Enhancers	Primary hematopoietic stem cells	blood
40	chr11:36474000-36477800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:36474000-36478400	Enhancers	Brain Substantia Nigra	brain
42	chr11:36474000-36478600	Enhancers	NH-A	brain
43	chr11:36474000-36478800	Enhancers	Right Ventricle	heart
44	chr11:36474200-36476200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:36474200-36478400	Enhancers	Hela-S3	cervix
46	chr11:36474200-36486800	Weak transcription	Small Intestine	intestine
47	chr11:36474400-36476800	Strong transcription	Colonic Mucosa	Colon
48	chr11:36474400-36483800	Weak transcription	Aorta	Aorta
49	chr11:36474600-36476000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:36474600-36476800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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