Variant report

Variant	rs11693483
Chromosome Location	chr2:113923603-113923604
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113914220..113919352-chr2:113920287..113927373,11	MCF-7	breast:
2	chr2:113874591..113876777-chr2:113922507..113925493,2	MCF-7	breast:
3	chr2:113911176..113912907-chr2:113922256..113923877,2	MCF-7	breast:
4	chr2:113917155..113920806-chr2:113921450..113923918,4	MCF-7	breast:
5	chr2:113913709..113916630-chr2:113917951..113924998,9	MCF-7	breast:
6	chr2:113923220..113926121-chr2:113970035..113971940,2	K562	blood:
7	chr2:113920848..113928426-chr2:113929867..113935117,10	K562	blood:
8	chr2:113916877..113920304-chr2:113923250..113926364,4	K562	blood:
9	chr2:113921088..113923644-chr2:113924466..113926156,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136689	Chromatin interaction
ENSG00000125637	Chromatin interaction
ENSG00000234174	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11893620	1.00[ASN][1000 genomes]
rs17043077	1.00[ASN][1000 genomes]
rs2902453	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34091220	1.00[ASN][1000 genomes]
rs34461072	1.00[ASN][1000 genomes]
rs45560237	1.00[ASN][1000 genomes]
rs71416505	1.00[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	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113916000-113939000	Weak transcription	Right Atrium	heart
2	chr2:113916600-113924200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:113920800-113923800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:113920800-113924600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:113921000-113924600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:113921000-113927600	Enhancers	Liver	Liver
7	chr2:113921600-113923800	Enhancers	Colonic Mucosa	Colon
8	chr2:113921600-113926200	Enhancers	Duodenum Mucosa	Duodenum
9	chr2:113921800-113923800	Enhancers	Fetal Intestine Large	intestine
10	chr2:113921800-113923800	Flanking Active TSS	HepG2	liver
11	chr2:113921800-113924800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:113921800-113926400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr2:113921800-113927000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:113922000-113923800	Enhancers	Fetal Intestine Small	intestine
15	chr2:113922000-113924800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:113922200-113924600	Weak transcription	Spleen	Spleen
17	chr2:113922400-113923800	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr2:113922400-113924800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:113922400-113930200	Weak transcription	Small Intestine	intestine
20	chr2:113922600-113923800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:113922600-113923800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:113922600-113924000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:113922600-113924400	Weak transcription	K562	blood
24	chr2:113922600-113924600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:113922600-113924800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:113922800-113923800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:113922800-113924400	Enhancers	Primary T cells from cord blood	blood
28	chr2:113922800-113925600	Weak transcription	Esophagus	oesophagus
29	chr2:113922800-113925800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:113922800-113930400	Weak transcription	Fetal Stomach	stomach
31	chr2:113923000-113923800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:113923000-113923800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:113923000-113924600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr2:113923000-113924600	Weak transcription	Placenta	Placenta
35	chr2:113923000-113924600	Weak transcription	Gastric	stomach
36	chr2:113923000-113924800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:113923000-113924800	Weak transcription	NHEK	skin
38	chr2:113923000-113930200	Weak transcription	Lung	lung
39	chr2:113923000-113931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:113923000-113932200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:113923000-113951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:113923000-113956000	Weak transcription	HMEC	breast
43	chr2:113923200-113923800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:113923200-113924000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr2:113923200-113924000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:113923200-113924200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:113923200-113924400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:113923200-113924800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:113923200-113931600	Weak transcription	Brain Anterior Caudate	brain
50	chr2:113923400-113923800	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links