Variant report

Variant	rs72964748
Chromosome Location	chr1:93040901-93040902
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	chr1:93037475..93039657-chr1:93040585..93042175,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56771910	1.00[AFR][1000 genomes]
rs72962656	1.00[AFR][1000 genomes]
rs72962657	1.00[AFR][1000 genomes]
rs72962669	1.00[AFR][1000 genomes]
rs72962677	1.00[AFR][1000 genomes]
rs72964725	1.00[AFR][1000 genomes]
rs72964727	1.00[AFR][1000 genomes]
rs72964760	1.00[AFR][1000 genomes]
rs72966719	1.00[AFR][1000 genomes]
rs72966745	0.83[AFR][1000 genomes]
rs72966760	1.00[AFR][1000 genomes]
rs72966784	1.00[AFR][1000 genomes]
rs72966791	1.00[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	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1004381	chr1:92968173-93064823	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830603	chr1:93003657-93172206	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92968200-93042800	Weak transcription	HSMM	muscle
2	chr1:92976400-93042400	Weak transcription	Fetal Stomach	stomach
3	chr1:92983600-93066200	Weak transcription	Adipose Nuclei	Adipose
4	chr1:92994600-93066000	Weak transcription	Placenta	Placenta
5	chr1:93004400-93042200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:93004400-93042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:93004400-93070000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:93007800-93042600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:93012000-93042800	Weak transcription	Left Ventricle	heart
10	chr1:93014800-93053000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:93014800-93100200	Weak transcription	Right Ventricle	heart
12	chr1:93017000-93066000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:93018600-93054600	Weak transcription	Lung	lung
14	chr1:93022000-93042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:93024200-93056000	Weak transcription	Fetal Heart	heart
16	chr1:93026000-93091800	Weak transcription	Hela-S3	cervix
17	chr1:93027000-93043400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:93027400-93066000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:93027800-93042400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:93027800-93042600	Weak transcription	NH-A	brain
21	chr1:93029200-93042400	Weak transcription	HUVEC	blood vessel
22	chr1:93029400-93046000	Weak transcription	Primary B cells from cord blood	blood
23	chr1:93029800-93042400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:93030000-93054600	Weak transcription	Aorta	Aorta
25	chr1:93030000-93082200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:93031000-93042600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:93032000-93054400	Weak transcription	Fetal Lung	lung
28	chr1:93033400-93049800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:93034000-93049600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:93034000-93054600	Weak transcription	Fetal Intestine Small	intestine
31	chr1:93034400-93081000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:93034600-93048800	Weak transcription	HMEC	breast
33	chr1:93034800-93047600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:93035400-93049400	Weak transcription	HSMMtube	muscle
35	chr1:93035600-93042400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr1:93039200-93041000	Strong transcription	Liver	Liver
37	chr1:93039800-93042200	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr1:93040000-93041200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr1:93040200-93042400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:93040400-93046600	Weak transcription	Fetal Intestine Large	intestine
41	chr1:93040400-93050800	Weak transcription	Gastric	stomach
42	chr1:93040800-93041200	Weak transcription	Pancreas	Pancrea
43	chr1:93040800-93041400	Enhancers	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links