Variant report

Variant	rs6734925
Chromosome Location	chr2:128608577-128608578
allele	C/T
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	POLR2A	chr2:128608299-128608890	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:128599912..128602940-chr2:128607038..128610193,4	K562	blood:
2	chr2:128602957..128605928-chr2:128608203..128610569,3	K562	blood:
3	chr2:128600552..128602940-chr2:128607097..128610193,4	K562	blood:
4	chr2:128606065..128608764-chr2:128612100..128615102,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244563	TF binding region
ENSG00000270081	Chromatin interaction
ENSG00000244563	Chromatin interaction
ENSG00000202532	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10171898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11557685	1.00[ASN][1000 genomes]
rs11674513	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678032	1.00[ASN][1000 genomes]
rs11692524	1.00[ASN][1000 genomes]
rs11693759	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13397060	0.81[ASN][1000 genomes]
rs13421835	0.81[ASN][1000 genomes]
rs13423029	0.81[ASN][1000 genomes]
rs17418125	1.00[ASN][1000 genomes]
rs17534053	1.00[ASN][1000 genomes]
rs17534123	1.00[ASN][1000 genomes]
rs17599575	1.00[ASN][1000 genomes]
rs17600177	1.00[ASN][1000 genomes]
rs3771291	1.00[ASN][1000 genomes]
rs56954978	1.00[ASN][1000 genomes]
rs57410763	0.86[ASN][1000 genomes]
rs57498556	1.00[ASN][1000 genomes]
rs57913162	1.00[ASN][1000 genomes]
rs57986825	1.00[ASN][1000 genomes]
rs58080260	1.00[ASN][1000 genomes]
rs59009188	0.86[ASN][1000 genomes]
rs59090605	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59727076	1.00[ASN][1000 genomes]
rs59918187	0.81[ASN][1000 genomes]
rs60087786	1.00[ASN][1000 genomes]
rs61187878	1.00[ASN][1000 genomes]
rs61730415	1.00[ASN][1000 genomes]
rs6714620	1.00[ASN][1000 genomes]
rs6756507	1.00[ASN][1000 genomes]
rs72963794	1.00[ASN][1000 genomes]
rs7560482	0.81[ASN][1000 genomes]
rs7574303	0.81[ASN][1000 genomes]
rs7575961	1.00[ASN][1000 genomes]
rs7585200	1.00[ASN][1000 genomes]
rs7591477	1.00[ASN][1000 genomes]
rs7605158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128600600-128615000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:128601400-128610400	Strong transcription	Fetal Intestine Small	intestine
3	chr2:128601400-128610800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:128601400-128610800	Strong transcription	Fetal Stomach	stomach
5	chr2:128601400-128611200	Strong transcription	Dnd41	blood
6	chr2:128601400-128612600	Strong transcription	Fetal Thymus	thymus
7	chr2:128601400-128613000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:128601600-128610600	Strong transcription	Brain Germinal Matrix	brain
9	chr2:128601600-128611200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr2:128601600-128614600	Weak transcription	Stomach Mucosa	stomach
11	chr2:128601800-128611200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:128601800-128611400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:128601800-128613600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:128602000-128610000	Strong transcription	GM12878-XiMat	blood
15	chr2:128602000-128610400	Strong transcription	Primary hematopoietic stem cells	blood
16	chr2:128602000-128610600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr2:128602000-128611000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:128602000-128611200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:128602000-128611200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:128602000-128611400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:128602000-128611600	Strong transcription	Placenta	Placenta
22	chr2:128602000-128612200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:128602000-128613200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:128602200-128610600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:128602200-128610600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:128602200-128611400	Strong transcription	Fetal Intestine Large	intestine
27	chr2:128602200-128611600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:128602400-128611000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:128602400-128611000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:128602400-128611000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:128602400-128611200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:128602400-128611400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:128602400-128611600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr2:128602400-128611800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:128602600-128610000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:128602600-128610400	Strong transcription	Colon Smooth Muscle	Colon
37	chr2:128602600-128610600	Strong transcription	Liver	Liver
38	chr2:128602600-128610800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:128602600-128610800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:128602600-128610800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:128602600-128610800	Strong transcription	Osteobl	bone
42	chr2:128602600-128611000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:128602600-128611000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:128602600-128611000	Strong transcription	Fetal Brain Female	brain
45	chr2:128602600-128611200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr2:128602600-128611200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:128602600-128611400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:128602600-128611400	Strong transcription	Primary T cells from cord blood	blood
49	chr2:128602600-128611400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:128602600-128611400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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