Variant report

Variant	rs6912129
Chromosome Location	chr6:143163025-143163026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr6:143162938-143169114	SK-N-SH	brain:	n/a	chr6:143167418-143167432 chr6:143167425-143167439 chr6:143163901-143163910 chr6:143166371-143166380 chr6:143166423-143166430 chr6:143167798-143167807 chr6:143167420-143167434 chr6:143166040-143166050 chr6:143167612-143167622 chr6:143163593-143163607 chr6:143163645-143163659 chr6:143165485-143165494 chr6:143168501-143168511 chr6:143166089-143166103 chr6:143167413-143167427 chr6:143167415-143167429
2	MTA3	chr6:143162979-143164837	GM12878	blood:	n/a	n/a
3	GATA2	chr6:143163014-143164780	HUVEC	blood vessel:	n/a	chr6:143163322-143163333 chr6:143163061-143163071 chr6:143163329-143163340 chr6:143163477-143163486

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143155142..143156982-chr6:143162746..143165321,2	MCF-7	breast:
2	chr6:143161716..143164065-chr6:143264829..143268470,4	MCF-7	breast:

Variant related genes	Relation type
HIVEP2	TF binding region
ENSG00000010818	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11155265	0.84[AMR][1000 genomes]
rs12190804	0.84[AMR][1000 genomes]
rs12192692	0.84[AMR][1000 genomes]
rs12194338	0.84[EUR][1000 genomes]
rs12194808	0.84[AMR][1000 genomes]
rs12196693	0.86[CEU][hapmap];0.84[AMR][1000 genomes]
rs12199711	0.84[AMR][1000 genomes]
rs12201734	0.84[AMR][1000 genomes]
rs12201987	0.86[CEU][hapmap];0.84[AMR][1000 genomes]
rs12203708	0.86[CEU][hapmap];0.84[AMR][1000 genomes]
rs12205948	0.84[AMR][1000 genomes]
rs12206012	0.84[AMR][1000 genomes]
rs12210048	0.86[CEU][hapmap];0.84[AMR][1000 genomes]
rs12210301	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17444447	0.84[AMR][1000 genomes]
rs2142938	0.86[CEU][hapmap];0.84[AMR][1000 genomes]
rs2876528	0.84[AMR][1000 genomes]
rs4349826	0.82[AMR][1000 genomes]
rs4492208	0.84[AMR][1000 genomes]
rs62430703	0.91[EUR][1000 genomes]
rs62430707	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62430709	0.84[AMR][1000 genomes]
rs62430712	0.84[AMR][1000 genomes]
rs6905453	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6910072	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6925118	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6927858	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs728589	0.86[CEU][hapmap];0.84[AMR][1000 genomes]
rs72990282	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9373362	0.84[ASN][1000 genomes]
rs972119	0.84[AMR][1000 genomes]
rs998313	0.84[AMR][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	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143144000-143165800	Weak transcription	Liver	Liver
2	chr6:143144600-143163200	Weak transcription	Fetal Thymus	thymus
3	chr6:143144800-143166800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:143149200-143166000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:143149400-143163200	Weak transcription	Adipose Nuclei	Adipose
6	chr6:143149400-143163600	Weak transcription	Fetal Lung	lung
7	chr6:143149600-143165600	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:143151400-143163200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:143152000-143163400	Weak transcription	Thymus	Thymus
10	chr6:143152800-143163600	Weak transcription	Fetal Stomach	stomach
11	chr6:143154600-143163600	Weak transcription	Aorta	Aorta
12	chr6:143155800-143163400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:143157000-143163200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:143157600-143163600	Weak transcription	Brain Angular Gyrus	brain
15	chr6:143157600-143163600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:143157600-143164600	Weak transcription	Fetal Brain Female	brain
17	chr6:143158000-143163600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr6:143159000-143163200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:143160800-143163200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:143160800-143164000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:143160800-143165200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:143160800-143165400	Weak transcription	Brain Substantia Nigra	brain
23	chr6:143161000-143163200	Weak transcription	HSMM	muscle
24	chr6:143161000-143163400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:143161000-143163400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr6:143161000-143163600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:143161000-143163600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:143161000-143163600	Weak transcription	Left Ventricle	heart
29	chr6:143161000-143163600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:143161000-143165800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:143161000-143166000	Weak transcription	Pancreas	Pancrea
32	chr6:143161200-143163200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:143161200-143163200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:143161200-143163400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:143161200-143163400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:143161200-143163600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:143161200-143163600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:143161200-143163600	Weak transcription	Psoas Muscle	Psoas
39	chr6:143161200-143163600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:143161200-143164000	Weak transcription	Right Ventricle	heart
41	chr6:143161200-143165800	Weak transcription	Fetal Heart	heart
42	chr6:143161400-143163200	Weak transcription	HMEC	breast
43	chr6:143161400-143163400	Weak transcription	A549	lung
44	chr6:143161400-143163400	Weak transcription	HepG2	liver
45	chr6:143161400-143163400	Weak transcription	NHDF-Ad	bronchial
46	chr6:143161400-143163600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:143161400-143163600	Weak transcription	NHEK	skin
48	chr6:143161400-143163800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:143161400-143163800	Weak transcription	Stomach Mucosa	stomach
50	chr6:143161400-143164000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links