Variant report

Variant	rs2487664
Chromosome Location	chr13:30405319-30405320
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30404779..30406710-chr13:30410063..30412340,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1410110	0.82[AFR][1000 genomes]
rs2761938	0.86[AFR][1000 genomes]
rs2761939	0.85[AFR][1000 genomes]
rs4238128	0.82[AFR][1000 genomes]
rs4265673	0.83[AFR][1000 genomes]
rs4769775	0.86[AFR][1000 genomes]
rs6490430	0.83[AFR][1000 genomes]
rs7326253	0.82[AFR][1000 genomes]
rs9508554	0.82[AFR][1000 genomes]
rs9578139	0.85[AFR][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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' 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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30376600-30420600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:30385800-30406800	Weak transcription	Pancreas	Pancrea
3	chr13:30385800-30410600	Weak transcription	Small Intestine	intestine
4	chr13:30386000-30406200	Weak transcription	Fetal Intestine Small	intestine
5	chr13:30391200-30410600	Weak transcription	Ovary	ovary
6	chr13:30392000-30415600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:30393800-30406800	Weak transcription	Primary T cells from cord blood	blood
8	chr13:30393800-30406800	Weak transcription	Colon Smooth Muscle	Colon
9	chr13:30394000-30410600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr13:30394200-30413400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr13:30394400-30407600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr13:30394400-30410600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr13:30397000-30405800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr13:30398600-30407000	Weak transcription	Brain Hippocampus Middle	brain
15	chr13:30402000-30409400	Weak transcription	Primary B cells from cord blood	blood
16	chr13:30402800-30405400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr13:30403000-30406800	Weak transcription	Psoas Muscle	Psoas
18	chr13:30403200-30407000	Weak transcription	Gastric	stomach
19	chr13:30403400-30406800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:30403600-30406800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr13:30404000-30405400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:30404000-30405600	Enhancers	GM12878-XiMat	blood
23	chr13:30404200-30405400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:30404400-30408400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr13:30404400-30420000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr13:30404600-30406000	Enhancers	Hela-S3	cervix
27	chr13:30404600-30415800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:30404800-30406000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr13:30404800-30406800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr13:30404800-30407000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr13:30404800-30415600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:30404800-30418200	Weak transcription	HSMM	muscle
33	chr13:30405000-30405400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr13:30405000-30407200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr13:30405000-30410600	Weak transcription	Osteobl	bone
36	chr13:30405200-30406000	Enhancers	HMEC	breast
37	chr13:30405200-30406800	Weak transcription	Liver	Liver
38	chr13:30405200-30406800	Weak transcription	Stomach Mucosa	stomach
39	chr13:30405200-30407000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr13:30405200-30408800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr13:30405200-30409400	Weak transcription	Adipose Nuclei	Adipose
42	chr13:30405200-30409400	Weak transcription	Brain Anterior Caudate	brain
43	chr13:30405200-30410000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr13:30405200-30415800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links