Variant report

Variant	rs7291376
Chromosome Location	chr22:30939168-30939169
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30830841..30833196-chr22:30936778..30939588,2	K562	blood:

Variant related genes	Relation type
ENSG00000203606	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs5997681	1.00[CEU][hapmap]

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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30938000-30939400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr22:30938200-30939200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
3	chr22:30938400-30939200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
4	chr22:30938400-30939600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr22:30938600-30939200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:30938600-30939200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
7	chr22:30938600-30939200	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr22:30938600-30939200	Flanking Active TSS	Brain Substantia Nigra	brain
9	chr22:30938600-30939200	Bivalent Enhancer	Fetal Stomach	stomach
10	chr22:30938600-30939200	Enhancers	Gastric	stomach
11	chr22:30938600-30939200	Flanking Active TSS	Lung	lung
12	chr22:30938600-30939200	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr22:30938600-30939400	Bivalent Enhancer	Colon Smooth Muscle	Colon
14	chr22:30938800-30939200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr22:30938800-30939200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:30938800-30939200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:30938800-30939200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr22:30938800-30939200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:30938800-30939200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:30938800-30939200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr22:30938800-30939200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:30938800-30939200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
23	chr22:30938800-30939200	Bivalent Enhancer	Fetal Intestine Large	intestine
24	chr22:30938800-30939200	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr22:30938800-30939200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr22:30938800-30939400	Enhancers	Brain Anterior Caudate	brain
27	chr22:30938800-30939400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr22:30938800-30940000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:30938800-30940000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:30939000-30939200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr22:30939000-30939200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr22:30939000-30939200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr22:30939000-30939200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr22:30939000-30939200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
35	chr22:30939000-30939200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr22:30939000-30939200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:30939000-30939400	ZNF genes & repeats	Esophagus	oesophagus
38	chr22:30939000-30939400	Enhancers	K562	blood
39	chr22:30939000-30949800	Weak transcription	Brain Angular Gyrus	brain
40	chr22:30939000-30950800	Weak transcription	Pancreas	Pancrea
41	chr22:30939000-30951400	Weak transcription	Ovary	ovary
42	chr22:30939000-30962000	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links