Variant report

Variant	rs11235425
Chromosome Location	chr11:71737960-71737961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71737867-71738003	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71737868..71740326-chr11:71811757..71813458,2	K562	blood:
2	chr11:71735278..71739296-chr11:71791106..71793307,3	MCF-7	breast:
3	chr11:71736992..71739760-chr11:71808437..71810726,3	MCF-7	breast:
4	chr11:71735775..71738006-chr11:71790062..71791994,2	MCF-7	breast:
5	chr11:71737580..71740720-chr11:71811756..71813797,3	MCF-7	breast:
6	chr11:71737643..71738177-chr11:71802084..71802697,2	MCF-7	breast:
7	chr11:71736279..71741735-chr11:71748156..71753835,11	MCF-7	breast:
8	chr11:71733947..71737964-chr11:71799047..71803336,5	MCF-7	breast:
9	chr11:71735259..71738046-chr11:71798702..71801474,2	MCF-7	breast:
10	chr11:71735248..71738213-chr11:71822405..71824486,2	MCF-7	breast:

No data

Variant related genes	Relation type
NUMA1	TF binding region
ENSG00000184154	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000149357	Chromatin interaction

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

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

rs_ID	r²[population]
rs11235419	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235424	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274520	1.00[AMR][1000 genomes]
rs12276164	1.00[AMR][1000 genomes]
rs12292778	1.00[AMR][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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71709800-71748000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:71710800-71743200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:71710800-71748000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:71711000-71741800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:71711000-71748800	Strong transcription	Dnd41	blood
6	chr11:71711200-71742400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:71711400-71747600	Strong transcription	Fetal Thymus	thymus
8	chr11:71711600-71747800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:71711800-71742800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:71711800-71743200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:71711800-71744200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr11:71712800-71741000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:71713400-71740800	Strong transcription	HepG2	liver
14	chr11:71713400-71741600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:71713800-71742400	Strong transcription	Primary hematopoietic stem cells	blood
16	chr11:71714600-71742400	Strong transcription	Hela-S3	cervix
17	chr11:71725200-71741400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr11:71725600-71747400	Strong transcription	Thymus	Thymus
19	chr11:71725800-71740200	Strong transcription	Gastric	stomach
20	chr11:71726600-71740400	Strong transcription	K562	blood
21	chr11:71727200-71740600	Strong transcription	Esophagus	oesophagus
22	chr11:71727800-71750200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:71730600-71748800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:71734200-71743000	Genic enhancers	Fetal Intestine Large	intestine
25	chr11:71734400-71744400	Genic enhancers	Fetal Intestine Small	intestine
26	chr11:71734600-71738600	Weak transcription	Stomach Mucosa	stomach
27	chr11:71734600-71743400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:71734800-71738200	Genic enhancers	Fetal Stomach	stomach
29	chr11:71735000-71739000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
30	chr11:71735000-71740600	Genic enhancers	Colon Smooth Muscle	Colon
31	chr11:71735200-71738000	Genic enhancers	Brain Inferior Temporal Lobe	brain
32	chr11:71735400-71738000	Genic enhancers	Liver	Liver
33	chr11:71735400-71738000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:71735400-71738200	Genic enhancers	Rectal Smooth Muscle	rectum
35	chr11:71735400-71739600	Weak transcription	Fetal Brain Male	brain
36	chr11:71735400-71740200	Genic enhancers	Brain Anterior Caudate	brain
37	chr11:71735400-71740400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
38	chr11:71735400-71750000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:71735600-71738200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:71735600-71738600	Genic enhancers	Adipose Nuclei	Adipose
41	chr11:71735600-71739600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:71735600-71739800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:71735800-71738000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:71735800-71738000	Genic enhancers	Fetal Muscle Leg	muscle
45	chr11:71735800-71738200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:71735800-71739200	Weak transcription	Small Intestine	intestine
47	chr11:71735800-71740400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:71735800-71750000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr11:71736000-71738000	Genic enhancers	Pancreas	Pancrea
50	chr11:71736000-71738200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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