Variant report

Variant	rs370283630
Chromosome Location	chr22:30296015-30296016
allele	-/TAA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr22:30295778-30296107	HepG2	liver:	n/a	chr22:30295942-30295953 chr22:30295941-30295952

Variant related genes	Relation type
RNU6-331P	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1833221	chr22:30274129-30297376	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv829161	chr22:30276811-30298332	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv829162	chr22:30276811-30298761	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv11554	chr22:30280400-30298271	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1830801	chr22:30292682-30299797	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1833074	chr22:30294744-30300521	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
2	chr22:30280400-30297400	Weak transcription	K562	blood
3	chr22:30280800-30303600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr22:30281000-30303000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr22:30281000-30303200	Weak transcription	Fetal Muscle Leg	muscle
6	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr22:30281600-30303400	Weak transcription	Fetal Intestine Small	intestine
8	chr22:30281800-30299000	Weak transcription	Spleen	Spleen
9	chr22:30281800-30300200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:30282000-30297600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr22:30282200-30303000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:30282200-30303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr22:30282600-30300000	Weak transcription	Small Intestine	intestine
15	chr22:30282600-30303400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:30283800-30297400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr22:30283800-30299000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:30283800-30300000	Weak transcription	Stomach Mucosa	stomach
19	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
20	chr22:30284000-30297200	Weak transcription	Primary B cells from cord blood	blood
21	chr22:30284000-30299800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr22:30284000-30303600	Weak transcription	Brain Angular Gyrus	brain
23	chr22:30284400-30303800	Weak transcription	Pancreas	Pancrea
24	chr22:30287000-30301000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr22:30287800-30297400	Weak transcription	Adipose Nuclei	Adipose
27	chr22:30290400-30299000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr22:30290800-30300000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr22:30291000-30299800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr22:30291000-30303600	Weak transcription	Colon Smooth Muscle	Colon
32	chr22:30291800-30296600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr22:30293400-30296200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr22:30293800-30299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:30294000-30297600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr22:30294800-30297600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr22:30294800-30299000	Weak transcription	Lung	lung
38	chr22:30294800-30299000	Weak transcription	Ovary	ovary
39	chr22:30294800-30299400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr22:30294800-30300000	Weak transcription	Right Atrium	heart
41	chr22:30294800-30300000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr22:30294800-30301000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr22:30294800-30302000	Weak transcription	Right Ventricle	heart
44	chr22:30294800-30303400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr22:30294800-30303800	Weak transcription	Fetal Stomach	stomach
46	chr22:30295200-30300000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr22:30295400-30297400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:30295400-30299400	Weak transcription	Left Ventricle	heart
49	chr22:30295400-30300000	Weak transcription	Gastric	stomach
50	chr22:30295400-30303400	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links