Variant report

Variant	rs4993822
Chromosome Location	chr13:52263103-52263104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52249986..52252706-chr13:52260761..52263371,2	K562	blood:
2	chr13:52158451..52160371-chr13:52260626..52263214,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139668	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3862737	0.94[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs912097	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52234000-52277800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr13:52234200-52263200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr13:52239200-52263200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:52247200-52277400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr13:52247600-52300200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr13:52247600-52300200	Weak transcription	Fetal Lung	lung
7	chr13:52249400-52307600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:52250600-52263200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:52250600-52263200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr13:52251200-52269600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr13:52254400-52270200	Weak transcription	Esophagus	oesophagus
12	chr13:52254400-52273200	Weak transcription	Pancreas	Pancrea
13	chr13:52254600-52293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr13:52254600-52301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:52255400-52263600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:52255400-52273200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:52255600-52273200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:52256400-52277800	Weak transcription	HSMMtube	muscle
19	chr13:52256800-52263200	Weak transcription	HMEC	breast
20	chr13:52257200-52263600	Weak transcription	NH-A	brain
21	chr13:52258000-52273400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr13:52258000-52280400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr13:52258200-52263200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:52258200-52263400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:52258200-52263600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:52258600-52271600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr13:52258600-52273400	Weak transcription	NHEK	skin
28	chr13:52258800-52270600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr13:52259000-52263600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:52259200-52278000	Weak transcription	Primary T cells from cord blood	blood
31	chr13:52259400-52273200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr13:52259400-52277800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr13:52260600-52263200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:52260600-52263800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:52261000-52273800	Weak transcription	Primary B cells from cord blood	blood
36	chr13:52261400-52263200	Enhancers	Brain Substantia Nigra	brain
37	chr13:52261400-52263400	Enhancers	HepG2	liver
38	chr13:52261400-52263600	Enhancers	Brain Anterior Caudate	brain
39	chr13:52261400-52264200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr13:52261600-52263200	Enhancers	GM12878-XiMat	blood
41	chr13:52261600-52263600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr13:52261600-52264200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr13:52261600-52264200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr13:52261600-52264200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr13:52261600-52264200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:52261800-52263400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr13:52261800-52264000	Enhancers	Fetal Brain Female	brain
48	chr13:52262000-52263400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:52262000-52263400	Enhancers	Brain Hippocampus Middle	brain
50	chr13:52262000-52263600	Enhancers	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links