Variant report

Variant	rs138257801
Chromosome Location	chr1:161042507-161042508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:161042401-161043045	HepG2	liver:	n/a	n/a
2	MAX	chr1:161041655-161043335	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161039261..161041594-chr1:161042293..161044565,2	MCF-7	breast:
2	chr1:161013435..161019346-chr1:161039308..161043996,7	MCF-7	breast:
3	chr1:161040956..161045180-chr1:161134527..161136918,3	MCF-7	breast:
4	chr1:160982248..160985015-chr1:161041891..161043731,2	K562	blood:
5	chr1:161035244..161038070-chr1:161039157..161043697,5	MCF-7	breast:
6	chr1:161014829..161016520-chr1:161042176..161043706,2	K562	blood:
7	chr1:161006354..161009878-chr1:161042497..161045575,4	MCF-7	breast:
8	chr1:161041322..161042651-chr1:161108963..161110253,9	K562	blood:

No data

Variant related genes	Relation type
ARHGAP30	TF binding region
ENSG00000268154	Chromatin interaction
ENSG00000215845	Chromatin interaction
ENSG00000143224	Chromatin interaction
ENSG00000186517	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000270149	Chromatin interaction

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

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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv947135	chr1:161041002-161050287	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161030000-161046200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:161038800-161043400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:161039000-161043400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:161039600-161049000	Weak transcription	Lung	lung
5	chr1:161039600-161066800	Weak transcription	Right Atrium	heart
6	chr1:161039800-161049000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:161039800-161052600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:161039800-161053000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:161040000-161044400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:161040200-161042600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr1:161040200-161042600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:161040200-161045000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:161040200-161052600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:161040200-161052800	Weak transcription	Colonic Mucosa	Colon
15	chr1:161040800-161046800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:161041000-161043200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:161041200-161043000	Weak transcription	HMEC	breast
18	chr1:161041200-161043600	Genic enhancers	Placenta	Placenta
19	chr1:161041400-161043200	Weak transcription	NHEK	skin
20	chr1:161041800-161043400	Flanking Active TSS	HepG2	liver
21	chr1:161041800-161043800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:161042000-161042600	Strong transcription	Fetal Stomach	stomach
23	chr1:161042000-161043000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:161042000-161043400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:161042000-161043400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:161042000-161044200	Weak transcription	Pancreas	Pancrea
27	chr1:161042000-161045000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:161042000-161045000	Genic enhancers	Esophagus	oesophagus
29	chr1:161042000-161045000	Strong transcription	Gastric	stomach
30	chr1:161042000-161045000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr1:161042200-161043200	Weak transcription	Adipose Nuclei	Adipose
32	chr1:161042200-161043400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:161042200-161043400	Strong transcription	Stomach Mucosa	stomach
34	chr1:161042200-161043400	Weak transcription	HSMM	muscle
35	chr1:161042200-161043600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:161042200-161044400	Weak transcription	K562	blood
37	chr1:161042400-161042800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:161042400-161042800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:161042400-161043400	Weak transcription	Spleen	Spleen
40	chr1:161042400-161049400	Weak transcription	Monocytes-CD14+_RO01746	blood

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