Variant report

Variant	rs330260
Chromosome Location	chr11:36422172-36422173
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	chr11:36421924-36422649	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
PRR5L	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10768208	0.90[AMR][1000 genomes]
rs10768209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12270583	0.82[CEU][hapmap];0.94[JPT][hapmap]
rs330259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122699	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400000-36425200	Weak transcription	Fetal Kidney	kidney
2	chr11:36400000-36425600	Weak transcription	HUVEC	blood vessel
3	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:36400600-36431200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:36402000-36424200	Weak transcription	Left Ventricle	heart
7	chr11:36402000-36431800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:36403000-36438200	Weak transcription	Ovary	ovary
9	chr11:36407200-36441800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:36407400-36425800	Weak transcription	Small Intestine	intestine
11	chr11:36408400-36433000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:36409800-36430000	Weak transcription	Liver	Liver
13	chr11:36412000-36427600	Weak transcription	Placenta	Placenta
14	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
15	chr11:36413200-36441600	Weak transcription	HSMMtube	muscle
16	chr11:36413400-36430000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:36413800-36428400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:36414200-36426000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:36414800-36428800	Weak transcription	Stomach Mucosa	stomach
20	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:36415000-36429800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:36415400-36429400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:36416000-36422600	Weak transcription	Thymus	Thymus
24	chr11:36416600-36422800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:36416600-36431600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:36416800-36422200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:36417200-36422400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:36417400-36424400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:36417600-36429000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:36418200-36425000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:36418200-36436800	Weak transcription	Pancreas	Pancrea
32	chr11:36418400-36426000	Weak transcription	Fetal Lung	lung
33	chr11:36418400-36426000	Weak transcription	HSMM	muscle
34	chr11:36419400-36423400	Genic enhancers	Primary T cells fromperipheralblood	blood
35	chr11:36419400-36423400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:36419400-36428800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:36419600-36422400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:36419600-36423400	Genic enhancers	Spleen	Spleen
39	chr11:36419600-36430000	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr11:36419800-36422800	Genic enhancers	Fetal Intestine Small	intestine
41	chr11:36419800-36422800	Genic enhancers	Rectal Mucosa Donor 31	rectum
42	chr11:36419800-36426400	Genic enhancers	Fetal Intestine Large	intestine
43	chr11:36419800-36429200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:36420000-36423400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:36420000-36423600	Strong transcription	Fetal Muscle Leg	muscle
46	chr11:36420000-36424600	Strong transcription	Colonic Mucosa	Colon
47	chr11:36420200-36423000	Enhancers	Fetal Thymus	thymus
48	chr11:36420200-36424800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr11:36420200-36429000	Strong transcription	NHEK	skin
50	chr11:36420200-36431800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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