Variant report

Variant	rs4551627
Chromosome Location	chr1:173439724-173439725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173437373..173440361-chr1:173444583..173446668,3	K562	blood:

Variant related genes	Relation type
ENSG00000117592	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10732994	0.89[AFR][1000 genomes]
rs10737302	0.89[AFR][1000 genomes]
rs35581908	0.93[AFR][1000 genomes]
rs4342885	0.92[AFR][1000 genomes]
rs4354572	0.92[AFR][1000 genomes]
rs4567310	0.92[AFR][1000 genomes]
rs4636504	0.92[AFR][1000 genomes]
rs7513591	0.92[AFR][1000 genomes]
rs7513763	0.92[AFR][1000 genomes]
rs9425410	0.92[AFR][1000 genomes]
rs9425722	0.95[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr1:173423800-173442400	Weak transcription	NH-A	brain
2	chr1:173425200-173442400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:173429400-173439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:173430400-173442400	Weak transcription	Gastric	stomach
5	chr1:173430400-173442800	Weak transcription	Pancreas	Pancrea
6	chr1:173430400-173444400	Weak transcription	Right Ventricle	heart
7	chr1:173430600-173439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:173430600-173442600	Weak transcription	Aorta	Aorta
9	chr1:173430600-173443200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:173430600-173444400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:173430800-173439800	Weak transcription	Fetal Stomach	stomach
12	chr1:173430800-173445000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:173431000-173439800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:173431000-173439800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:173431000-173439800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:173431000-173442400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:173431000-173442400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:173431000-173442400	Weak transcription	Hela-S3	cervix
19	chr1:173431000-173442600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:173431000-173442600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:173431000-173444400	Weak transcription	Left Ventricle	heart
22	chr1:173431200-173439800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:173431200-173439800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:173431200-173442400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:173431200-173442800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:173431400-173441200	Weak transcription	HSMM	muscle
27	chr1:173431600-173442400	Weak transcription	Liver	Liver
28	chr1:173432600-173439800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:173432800-173442600	Weak transcription	Fetal Heart	heart
30	chr1:173433000-173439800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:173433000-173442400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:173433200-173444200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:173433400-173442800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:173433800-173440000	Weak transcription	Fetal Lung	lung
35	chr1:173435600-173442800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:173435800-173442000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:173436400-173442800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr1:173436600-173439800	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:173437000-173439800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:173437000-173439800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:173437000-173439800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:173437000-173442400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:173437200-173442200	Weak transcription	Osteobl	bone
44	chr1:173438000-173439800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:173438000-173439800	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:173438000-173442600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
47	chr1:173438200-173439800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:173438200-173445000	Weak transcription	Primary B cells from cord blood	blood
49	chr1:173438600-173440400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr1:173438600-173441600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links