Variant report

Variant	rs530657754
Chromosome Location	chr2:113949295-113949296
allele	C/G
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	POLR2A	chr2:113949295-113949522	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:113949267-113949910	GM12891	blood:	n/a	n/a
3	POLR2A	chr2:113949244-113949780	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:113949224-113949958	GM12891	blood:	n/a	n/a
5	POLR2A	chr2:113949210-113950505	GM12891	blood:	n/a	n/a
6	POLR2A	chr2:113949224-113949888	GM12892	blood:	n/a	n/a
7	POLR2A	chr2:113949284-113949489	K562	blood:	n/a	n/a
8	POLR2A	chr2:113949171-113952590	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113943264..113945628-chr2:113949034..113951386,2	K562	blood:

Variant related genes	Relation type
PSD4	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv582712	chr2:113932431-113985170	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv874898	chr2:113935407-113954247	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv874899	chr2:113935407-113962071	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv874900	chr2:113948378-113967990	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113923000-113951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:113923000-113956000	Weak transcription	HMEC	breast
3	chr2:113934200-113956200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:113939400-113956000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:113939400-113956400	Weak transcription	Small Intestine	intestine
6	chr2:113939600-113953800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:113939600-113955400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:113939600-113956200	Weak transcription	Fetal Lung	lung
9	chr2:113940000-113961000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:113940400-113950000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:113941000-113950000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:113941200-113949800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:113941400-113950000	Weak transcription	Esophagus	oesophagus
14	chr2:113941800-113950000	Weak transcription	NHEK	skin
15	chr2:113942000-113950400	Weak transcription	Fetal Intestine Large	intestine
16	chr2:113942400-113950200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:113942800-113956600	Strong transcription	Fetal Thymus	thymus
18	chr2:113942800-113961000	Strong transcription	Dnd41	blood
19	chr2:113943000-113956200	Weak transcription	Brain Substantia Nigra	brain
20	chr2:113943600-113950000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:113943600-113956200	Weak transcription	Adipose Nuclei	Adipose
22	chr2:113943800-113949600	Weak transcription	Gastric	stomach
23	chr2:113943800-113950000	Weak transcription	Lung	lung
24	chr2:113943800-113955200	Weak transcription	Stomach Mucosa	stomach
25	chr2:113943800-113956000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:113944400-113950000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:113944400-113950000	Weak transcription	Placenta	Placenta
28	chr2:113944400-113950000	Weak transcription	Pancreas	Pancrea
29	chr2:113944600-113950000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:113945200-113949800	Weak transcription	Fetal Stomach	stomach
31	chr2:113945600-113950000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:113945600-113950200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:113945600-113951000	Weak transcription	HepG2	liver
34	chr2:113945600-113952000	Weak transcription	K562	blood
35	chr2:113946400-113950000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:113947200-113950200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:113947400-113961000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:113947600-113955800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr2:113947800-113950000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:113947800-113955200	Strong transcription	Thymus	Thymus
41	chr2:113947800-113956200	Strong transcription	GM12878-XiMat	blood
42	chr2:113947800-113959600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:113947800-113960600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:113948000-113953600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:113948200-113953600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:113948400-113953400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:113948400-113955000	Strong transcription	Liver	Liver
48	chr2:113948600-113951800	Strong transcription	Fetal Intestine Small	intestine
49	chr2:113948600-113952600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:113948600-113954200	Strong transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links