Variant report

Variant	rs2647464
Chromosome Location	chr1:220150001-220150002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220146511..220151613-chr1:220159074..220162362,5	K562	blood:
2	chr1:220148652..220150555-chr1:220203564..220205134,2	K562	blood:
3	chr1:220147760..220150265-chr1:220156237..220158449,2	K562	blood:

Variant related genes	Relation type
ENSG00000238798	Chromatin interaction
ENSG00000136628	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1061160	0.81[ASN][1000 genomes]
rs1498393	0.81[ASN][1000 genomes]
rs1624678	0.81[ASN][1000 genomes]
rs1982985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2647463	0.81[ASN][1000 genomes]

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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
3	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220132800-220177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220139400-220154000	Weak transcription	Fetal Lung	lung
3	chr1:220140000-220167400	Weak transcription	Gastric	stomach
4	chr1:220140200-220151800	Weak transcription	NHLF	lung
5	chr1:220140200-220157600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:220140200-220160000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:220140400-220154200	Weak transcription	Esophagus	oesophagus
8	chr1:220140600-220162400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:220140600-220162400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:220140600-220163000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:220140800-220150800	Strong transcription	Left Ventricle	heart
12	chr1:220140800-220161800	Strong transcription	Fetal Thymus	thymus
13	chr1:220140800-220162400	Strong transcription	Fetal Intestine Large	intestine
14	chr1:220140800-220162400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:220140800-220163200	Strong transcription	Primary T cells from cord blood	blood
16	chr1:220140800-220164000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:220140800-220173400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:220141000-220158000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr1:220141000-220163000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:220141000-220163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:220141000-220163400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:220141200-220152000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:220141200-220158200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr1:220141200-220162000	Strong transcription	Adipose Nuclei	Adipose
26	chr1:220141200-220162800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr1:220141200-220163200	Strong transcription	HSMM	muscle
28	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
29	chr1:220141400-220161800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:220141400-220162000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:220141400-220162200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr1:220141400-220162200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:220141400-220163400	Strong transcription	Dnd41	blood
34	chr1:220141400-220165400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:220141600-220158000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:220141600-220162000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:220141600-220162200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr1:220141800-220157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:220142000-220154600	Strong transcription	GM12878-XiMat	blood
40	chr1:220142200-220164000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:220142400-220152000	Weak transcription	Fetal Brain Male	brain
42	chr1:220142600-220154000	Weak transcription	Aorta	Aorta
43	chr1:220142600-220169400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:220143000-220151000	Weak transcription	HMEC	breast
45	chr1:220144000-220152400	Weak transcription	Pancreas	Pancrea
46	chr1:220144000-220154000	Weak transcription	Small Intestine	intestine
47	chr1:220144200-220151800	Weak transcription	Colonic Mucosa	Colon
48	chr1:220144400-220157200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr1:220145200-220155000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:220145600-220150200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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