Variant report

Variant	rs6425311
Chromosome Location	chr1:174971883-174971884
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:174971811-174972011	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:174963970-174972111	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174968752..174972930-chr1:174980465..174984788,7	MCF-7	breast:
2	chr1:173835653..173838766-chr1:174968504..174972418,4	K562	blood:
3	chr1:174966465..174968007-chr1:174970965..174973643,2	MCF-7	breast:
4	chr1:174966455..174979047-chr1:174985921..174994239,29	MCF-7	breast:
5	chr1:174968308..174972682-chr1:174973669..174977278,7	MCF-7	breast:
6	chr1:174966903..174971287-chr1:174971534..174977740,10	MCF-7	breast:

No data

Variant related genes	Relation type
CACYBP	TF binding region
ENSG00000206659	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000116161	Chromatin interaction
ENSG00000120333	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10489331	1.00[EUR][1000 genomes]
rs10489334	1.00[EUR][1000 genomes]
rs10912852	1.00[EUR][1000 genomes]
rs10912862	1.00[EUR][1000 genomes]
rs10912866	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912869	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061403	1.00[EUR][1000 genomes]
rs12062145	1.00[EUR][1000 genomes]
rs12072529	1.00[EUR][1000 genomes]
rs12075140	1.00[EUR][1000 genomes]
rs12089375	1.00[EUR][1000 genomes]
rs13376513	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847652	1.00[EUR][1000 genomes]
rs16847670	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847701	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1894679	1.00[EUR][1000 genomes]
rs4650677	1.00[EUR][1000 genomes]
rs57512007	1.00[EUR][1000 genomes]
rs58503437	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60411387	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689751	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74128526	1.00[EUR][1000 genomes]
rs74128530	1.00[EUR][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	nsv1001000	chr1:174944208-174978853	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174969800-174972200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:174969800-174981600	Weak transcription	Gastric	stomach
3	chr1:174970000-174974000	Weak transcription	Left Ventricle	heart
4	chr1:174970000-174977000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:174970000-174977200	Weak transcription	Lung	lung
6	chr1:174970000-174977200	Weak transcription	Pancreas	Pancrea
7	chr1:174970000-174982400	Weak transcription	Esophagus	oesophagus
8	chr1:174970000-174991800	Weak transcription	Stomach Mucosa	stomach
9	chr1:174970200-174972000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:174970200-174973800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:174970200-174976600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:174970200-174977000	Weak transcription	Colonic Mucosa	Colon
13	chr1:174970200-174981200	Weak transcription	Right Ventricle	heart
14	chr1:174970400-174972000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:174970400-174972000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr1:174970400-174972200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:174970400-174972200	Enhancers	Adipose Nuclei	Adipose
18	chr1:174970400-174972200	Weak transcription	Psoas Muscle	Psoas
19	chr1:174970400-174973000	Enhancers	Liver	Liver
20	chr1:174970400-174973200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:174970400-174973800	Weak transcription	Fetal Intestine Large	intestine
22	chr1:174970400-174976800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:174970400-174977200	Weak transcription	Aorta	Aorta
24	chr1:174970600-174972000	Enhancers	Primary B cells from cord blood	blood
25	chr1:174970600-174972200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr1:174970600-174972600	Enhancers	Fetal Thymus	thymus
27	chr1:174970600-174973200	Enhancers	Small Intestine	intestine
28	chr1:174970600-174973600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:174970600-174974000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:174970600-174977200	Weak transcription	Fetal Stomach	stomach
31	chr1:174970600-174981800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:174970800-174972000	Enhancers	Fetal Intestine Small	intestine
33	chr1:174970800-174972200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:174970800-174972200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:174970800-174972200	Weak transcription	Ovary	ovary
36	chr1:174970800-174972200	Enhancers	Osteobl	bone
37	chr1:174970800-174972400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:174970800-174972600	Enhancers	Primary T cells from cord blood	blood
39	chr1:174970800-174972600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:174970800-174972600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:174970800-174973000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:174970800-174973200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr1:174970800-174973200	Enhancers	Fetal Lung	lung
44	chr1:174970800-174973200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:174970800-174973400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr1:174970800-174973600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr1:174970800-174973600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:174970800-174973800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:174970800-174973800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:174970800-174973800	Weak transcription	NH-A	brain

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