Variant report

Variant	rs331475
Chromosome Location	chr11:36472393-36472394
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	chr11:36472278-36473033	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36471715..36474622-chr11:36475747..36477445,2	MCF-7	breast:

Variant related genes	Relation type
PRR5L	TF binding region
ENSG00000135362	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1515062	1.00[AMR][1000 genomes]
rs230485	1.00[AMR][1000 genomes]
rs2458930	1.00[AMR][1000 genomes]
rs2673018	1.00[AMR][1000 genomes]
rs331431	1.00[AMR][1000 genomes]
rs331438	1.00[AMR][1000 genomes]
rs331449	1.00[AMR][1000 genomes]
rs331451	1.00[AMR][1000 genomes]
rs331452	1.00[AMR][1000 genomes]
rs331458	1.00[AMR][1000 genomes]
rs331461	1.00[AMR][1000 genomes]
rs331473	1.00[AMR][1000 genomes]
rs496289	1.00[AMR][1000 genomes]
rs505296	1.00[AMR][1000 genomes]
rs510479	1.00[AMR][1000 genomes]
rs520074	1.00[AMR][1000 genomes]
rs6484862	1.00[AMR][1000 genomes]
rs692743	1.00[AMR][1000 genomes]
rs693068	1.00[AMR][1000 genomes]
rs7125448	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:36449600-36474000	Weak transcription	Right Ventricle	heart
4	chr11:36452800-36473800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:36454800-36473600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:36455800-36473800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:36461600-36472600	Weak transcription	NH-A	brain
8	chr11:36463000-36474000	Weak transcription	Fetal Kidney	kidney
9	chr11:36464400-36478800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:36467800-36478800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:36468200-36473800	Weak transcription	Esophagus	oesophagus
12	chr11:36469000-36472400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:36469200-36474000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:36469200-36475600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:36469200-36475600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:36469200-36480200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:36469400-36472600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:36469400-36472600	Weak transcription	HSMM	muscle
19	chr11:36469400-36475800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:36469800-36475000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:36470000-36473600	Strong transcription	NHEK	skin
22	chr11:36470000-36475600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:36470200-36472400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:36470200-36472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:36470200-36476600	Weak transcription	Psoas Muscle	Psoas
26	chr11:36470400-36474800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:36470400-36477800	Genic enhancers	Fetal Intestine Small	intestine
28	chr11:36470600-36472400	Enhancers	Fetal Muscle Leg	muscle
29	chr11:36470600-36472600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:36470600-36472600	Enhancers	Lung	lung
31	chr11:36470600-36473800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:36470600-36482800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:36470800-36474800	Weak transcription	HMEC	breast
34	chr11:36470800-36478000	Genic enhancers	Fetal Intestine Large	intestine
35	chr11:36471000-36472400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:36471000-36472600	Enhancers	Ovary	ovary
37	chr11:36471000-36474000	Enhancers	Brain Anterior Caudate	brain
38	chr11:36471000-36474600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr11:36471000-36475400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:36471000-36476400	Enhancers	Fetal Thymus	thymus
41	chr11:36471000-36476400	Genic enhancers	Rectal Mucosa Donor 29	rectum
42	chr11:36471200-36473000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
43	chr11:36471200-36475400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr11:36471200-36475800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:36471200-36478000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr11:36471400-36472400	Enhancers	Fetal Brain Male	brain
47	chr11:36471400-36472600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr11:36471400-36472600	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr11:36471400-36473200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:36471400-36474400	Genic enhancers	Colonic Mucosa	Colon

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