Variant report

Variant	rs28653613
Chromosome Location	chr2:173423864-173423865
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173420097..173422198-chr2:173422510..173426199,4	K562	blood:

Variant related genes	Relation type
ENSG00000225205	Chromatin interaction
ENSG00000152256	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16860433	1.00[AMR][1000 genomes]
rs16860453	1.00[AMR][1000 genomes]
rs16860500	1.00[AMR][1000 genomes]
rs16860505	1.00[AMR][1000 genomes]
rs16860517	1.00[AMR][1000 genomes]
rs16860530	1.00[AMR][1000 genomes]
rs16860562	1.00[AMR][1000 genomes]
rs16860566	1.00[AMR][1000 genomes]
rs16860616	1.00[AMR][1000 genomes]
rs16860730	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860780	1.00[AMR][1000 genomes]
rs16860785	1.00[AMR][1000 genomes]
rs16860817	1.00[AMR][1000 genomes]
rs34599583	1.00[AMR][1000 genomes]
rs73023431	1.00[AMR][1000 genomes]
rs73023468	1.00[AMR][1000 genomes]
rs73023472	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv3035	chr2:173419058-173463901	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173421400-173436200	Weak transcription	Spleen	Spleen
2	chr2:173421600-173426000	Weak transcription	Esophagus	oesophagus
3	chr2:173421600-173427200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:173421600-173430000	Weak transcription	Gastric	stomach
5	chr2:173421600-173431000	Weak transcription	Aorta	Aorta
6	chr2:173421600-173436000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:173421600-173436000	Weak transcription	Lung	lung
8	chr2:173421600-173453400	Weak transcription	Pancreas	Pancrea
9	chr2:173421800-173424600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:173421800-173426000	Weak transcription	HSMMtube	muscle
11	chr2:173421800-173428400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:173421800-173429200	Weak transcription	Placenta	Placenta
13	chr2:173421800-173430000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:173421800-173430000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:173421800-173432000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:173421800-173439000	Weak transcription	Psoas Muscle	Psoas
17	chr2:173421800-173443600	Weak transcription	Ovary	ovary
18	chr2:173421800-173465200	Weak transcription	Small Intestine	intestine
19	chr2:173422000-173424600	Weak transcription	Fetal Stomach	stomach
20	chr2:173422000-173427000	Weak transcription	HSMM	muscle
21	chr2:173422000-173428000	Weak transcription	NH-A	brain
22	chr2:173422000-173428800	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:173422000-173429400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:173422000-173437600	Weak transcription	A549	lung
25	chr2:173422000-173438600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:173422000-173439000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:173422000-173443600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:173422200-173424600	Weak transcription	Thymus	Thymus
29	chr2:173422200-173425800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:173422200-173426000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:173422200-173426000	Weak transcription	Fetal Lung	lung
32	chr2:173422200-173427000	Weak transcription	HUVEC	blood vessel
33	chr2:173422200-173427000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:173422200-173429200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:173422200-173431000	Weak transcription	Brain Angular Gyrus	brain
36	chr2:173422200-173431600	Weak transcription	Osteobl	bone
37	chr2:173422200-173436200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:173422200-173437000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:173422200-173437000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:173422200-173438600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:173422200-173451000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:173422400-173424000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr2:173422400-173424000	Active TSS	Duodenum Mucosa	Duodenum
44	chr2:173422400-173424600	Weak transcription	Liver	Liver
45	chr2:173422400-173426000	Weak transcription	Brain Anterior Caudate	brain
46	chr2:173422400-173427200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:173422400-173427600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr2:173422600-173424600	Weak transcription	Fetal Thymus	thymus
49	chr2:173422600-173425000	Weak transcription	Fetal Brain Female	brain
50	chr2:173422600-173426400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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