Variant report

Variant	rs6757079
Chromosome Location	chr2:73446526-73446527
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	ZNF263	chr2:73445929-73447129	HEK293-T-REx	kidney:	n/a	chr2:73446967-73446976
2	POLR2A	chr2:73446456-73446655	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:73439579..73446812-chr2:73458193..73462998,13	MCF-7	breast:
2	chr2:73444073..73447610-chr2:73450068..73454237,4	MCF-7	breast:
3	chr2:73339242..73341589-chr2:73444895..73447020,2	K562	blood:
4	chr2:73440196..73443079-chr2:73443307..73449769,10	MCF-7	breast:

Variant related genes	Relation type
SMYD5	TF binding region
ENSG00000272702	Chromatin interaction
ENSG00000135624	Chromatin interaction
ENSG00000135632	Chromatin interaction
ENSG00000135617	Chromatin interaction
ENSG00000135631	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10048666	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048720	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048837	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048838	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10185970	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10193579	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10195007	1.00[ASN][1000 genomes]
rs10195282	1.00[ASN][1000 genomes]
rs10198711	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884073	0.89[ASN][1000 genomes]
rs11888772	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893547	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009208	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385938	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386236	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13404992	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409784	0.89[ASN][1000 genomes]
rs13423796	0.89[ASN][1000 genomes]
rs13424035	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008829	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008862	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008864	1.00[ASN][1000 genomes]
rs2043092	1.00[ASN][1000 genomes]
rs2288632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464603	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28494567	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768636	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820701	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57321619	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60913601	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61534579	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903461	0.89[ASN][1000 genomes]
rs7594590	0.95[AFR][1000 genomes];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	nsv2776	chr2:73431854-73482304	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73442000-73447000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:73442000-73447200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:73442000-73447600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:73442000-73447800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:73442000-73453800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:73442200-73447000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:73442200-73447200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:73442200-73447400	Weak transcription	Colonic Mucosa	Colon
9	chr2:73442200-73448000	Weak transcription	Placenta	Placenta
10	chr2:73442200-73448800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:73442200-73449000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:73442200-73453400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:73442200-73459600	Weak transcription	Right Atrium	heart
14	chr2:73442400-73447400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:73442400-73447600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:73442400-73451600	Weak transcription	Thymus	Thymus
17	chr2:73442400-73452400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:73442400-73459400	Weak transcription	Fetal Brain Male	brain
19	chr2:73442600-73446800	Weak transcription	Primary B cells from cord blood	blood
20	chr2:73442600-73447000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:73442600-73447200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:73442600-73448600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:73442600-73459600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:73442600-73459600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:73442600-73459600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:73442800-73446600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:73442800-73446800	Weak transcription	Brain Germinal Matrix	brain
28	chr2:73442800-73447000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:73442800-73447000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:73442800-73447400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:73442800-73447800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:73442800-73448400	Weak transcription	Fetal Thymus	thymus
33	chr2:73442800-73448600	Weak transcription	Fetal Kidney	kidney
34	chr2:73442800-73449400	Weak transcription	HUVEC	blood vessel
35	chr2:73442800-73449800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:73442800-73456400	Weak transcription	NH-A	brain
37	chr2:73442800-73459400	Weak transcription	Fetal Heart	heart
38	chr2:73442800-73459400	Weak transcription	Stomach Mucosa	stomach
39	chr2:73442800-73459600	Weak transcription	Small Intestine	intestine
40	chr2:73443000-73447000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:73443000-73447000	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:73443000-73448000	Weak transcription	Pancreas	Pancrea
43	chr2:73443000-73448200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:73443000-73448400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:73443000-73450200	Weak transcription	GM12878-XiMat	blood
46	chr2:73443000-73459600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:73443400-73447600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:73443400-73447600	Weak transcription	K562	blood
49	chr2:73444800-73456000	Strong transcription	HepG2	liver
50	chr2:73445000-73457600	Strong transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links