Variant report

Variant	rs2615804
Chromosome Location	chr1:226495886-226495887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226495193..226496766-chr17:79706606..79709360,2	K562	blood:
2	chr1:226494508..226498225-chr1:226504604..226509002,8	K562	blood:
3	chr1:226495222..226499325-chr1:226503022..226506400,5	K562	blood:
4	chr1:226249721..226252045-chr1:226495735..226498532,3	K562	blood:
5	chr1:226495420..226500064-chr1:226594005..226597004,6	K562	blood:
6	chr1:226495822..226498463-chr1:226504722..226507566,4	MCF-7	breast:
7	chr1:226488992..226494999-chr1:226495379..226497863,6	MCF-7	breast:
8	chr1:226495430..226499568-chr1:226501026..226504302,6	K562	blood:
9	chr1:226490285..226492434-chr1:226493434..226496087,2	MCF-7	breast:
10	chr1:226494405..226496827-chr1:226598001..226600824,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238545	Chromatin interaction
ENSG00000236994	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000270287	Chromatin interaction
ENSG00000143799	Chromatin interaction
ENSG00000239094	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12040262	1.00[LWK][hapmap]
rs1219653	0.94[EUR][1000 genomes]
rs2254991	1.00[EUR][1000 genomes]
rs2615762	1.00[EUR][1000 genomes]
rs2615763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2666424	1.00[EUR][1000 genomes]
rs2666425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3008182	1.00[AFR][1000 genomes]
rs6605031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6605035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6605036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226434200-226496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:226436800-226496000	Weak transcription	Esophagus	oesophagus
3	chr1:226452000-226496000	Weak transcription	Fetal Lung	lung
4	chr1:226456600-226496000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:226460800-226496000	Weak transcription	Gastric	stomach
6	chr1:226460800-226496000	Weak transcription	Pancreas	Pancrea
7	chr1:226461200-226496200	Weak transcription	Aorta	Aorta
8	chr1:226467800-226496000	Weak transcription	Brain Substantia Nigra	brain
9	chr1:226471000-226496000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:226472600-226496000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:226474800-226496200	Weak transcription	Small Intestine	intestine
12	chr1:226480200-226496000	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:226480800-226496000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:226481800-226496000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:226484800-226496000	Weak transcription	Ovary	ovary
16	chr1:226486600-226496000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:226486600-226496000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:226486600-226496000	Weak transcription	Colonic Mucosa	Colon
19	chr1:226486600-226496000	Weak transcription	Lung	lung
20	chr1:226486600-226496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:226486800-226496000	Weak transcription	Placenta	Placenta
22	chr1:226488000-226496000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:226488200-226496000	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:226489800-226496000	Weak transcription	Left Ventricle	heart
25	chr1:226493000-226496000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:226493200-226496000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:226493200-226496000	Weak transcription	Right Ventricle	heart
28	chr1:226494600-226496200	Transcr. at gene 5' and 3'	K562	blood
29	chr1:226494800-226496000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:226495400-226496000	Enhancers	Primary B cells from peripheral blood	blood
31	chr1:226495400-226496000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr1:226495400-226496000	Enhancers	Liver	Liver
33	chr1:226495400-226496000	Enhancers	Spleen	Spleen
34	chr1:226495400-226496200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:226495400-226496200	Flanking Active TSS	Dnd41	blood
36	chr1:226495400-226496400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:226495400-226497400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:226495400-226497400	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr1:226495400-226497600	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr1:226495600-226496000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr1:226495600-226496000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr1:226495600-226496000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:226495600-226496000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr1:226495600-226496000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr1:226495600-226496000	Active TSS	Fetal Brain Female	brain
46	chr1:226495600-226496000	Flanking Active TSS	A549	lung
47	chr1:226495600-226496200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:226495600-226496200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr1:226495600-226496200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr1:226495600-226496200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links