Variant report

Variant	rs7591204
Chromosome Location	chr2:54829458-54829459
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10166844	0.89[EUR][1000 genomes]
rs10169954	0.91[EUR][1000 genomes]
rs10169975	0.91[EUR][1000 genomes]
rs10170066	0.91[EUR][1000 genomes]
rs10170355	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs10176359	1.00[JPT][hapmap]
rs10176445	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10182538	0.91[EUR][1000 genomes]
rs10182836	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs10183867	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs10184128	0.94[CEU][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs10187338	0.91[EUR][1000 genomes]
rs10188545	0.91[EUR][1000 genomes]
rs10193692	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs10205410	0.85[EUR][1000 genomes]
rs10206143	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs10208225	0.88[EUR][1000 genomes]
rs1137645	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs11892236	1.00[JPT][hapmap]
rs11892443	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs11898032	0.91[EUR][1000 genomes]
rs11898033	0.91[EUR][1000 genomes]
rs11902987	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs12713264	0.94[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12713265	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs12713266	0.88[EUR][1000 genomes]
rs12713267	0.86[EUR][1000 genomes]
rs12713268	0.94[CEU][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];0.91[EUR][1000 genomes]
rs12713269	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs12713270	0.81[EUR][1000 genomes]
rs12713271	0.81[EUR][1000 genomes]
rs12713274	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13021606	0.92[ASN][1000 genomes]
rs13386146	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs13391522	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs13399656	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs13403284	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs13407214	0.88[EUR][1000 genomes]
rs13423873	0.89[EUR][1000 genomes]
rs13432302	0.93[EUR][1000 genomes]
rs17046097	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs28581481	0.90[EUR][1000 genomes]
rs3287	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs3796017	0.91[EUR][1000 genomes]
rs3796018	0.91[EUR][1000 genomes]
rs3796019	0.94[CEU][hapmap]
rs4346422	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs4347868	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4358162	0.81[EUR][1000 genomes]
rs4374410	0.93[EUR][1000 genomes]
rs4455200	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs4616509	0.91[EUR][1000 genomes]
rs4641979	0.91[EUR][1000 genomes]
rs6706263	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs6739140	0.93[EUR][1000 genomes]
rs6740893	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6749802	0.93[EUR][1000 genomes]
rs7340302	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs7556752	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs7564719	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7569127	1.00[JPT][hapmap]
rs7586311	0.91[EUR][1000 genomes]
rs7591231	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7599241	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs7608414	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:54816200-54830600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:54822200-54833800	Genic enhancers	HepG2	liver
4	chr2:54822400-54833600	Enhancers	Psoas Muscle	Psoas
5	chr2:54822400-54833800	Enhancers	Stomach Mucosa	stomach
6	chr2:54822400-54834000	Enhancers	Right Atrium	heart
7	chr2:54822800-54831600	Genic enhancers	A549	lung
8	chr2:54823200-54831000	Genic enhancers	Fetal Intestine Large	intestine
9	chr2:54824200-54829600	Enhancers	Fetal Heart	heart
10	chr2:54824200-54830600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:54824200-54833600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:54824600-54834400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:54824800-54829600	Genic enhancers	Primary hematopoietic stem cells	blood
14	chr2:54824800-54834400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:54824800-54839200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:54825000-54829800	Weak transcription	Fetal Brain Male	brain
17	chr2:54825800-54829600	Genic enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:54826000-54829600	Genic enhancers	Fetal Thymus	thymus
19	chr2:54826000-54831200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr2:54826400-54830200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:54826600-54832000	Genic enhancers	Fetal Intestine Small	intestine
22	chr2:54826800-54829600	Genic enhancers	Fetal Lung	lung
23	chr2:54826800-54830200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr2:54826800-54834400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:54827000-54829600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:54827200-54830000	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr2:54827200-54830400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:54827200-54832200	Enhancers	Stomach Smooth Muscle	stomach
29	chr2:54827200-54833800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:54827200-54834000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:54827200-54839000	Weak transcription	Hela-S3	cervix
32	chr2:54827400-54830200	Weak transcription	Thymus	Thymus
33	chr2:54827400-54831000	Enhancers	Rectal Smooth Muscle	rectum
34	chr2:54827400-54832000	Weak transcription	Brain Germinal Matrix	brain
35	chr2:54827400-54832000	Weak transcription	Fetal Brain Female	brain
36	chr2:54827600-54829600	Weak transcription	Placenta	Placenta
37	chr2:54827600-54829600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr2:54827600-54829600	Enhancers	K562	blood
39	chr2:54827600-54830600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:54827600-54830600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:54827600-54830800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr2:54827600-54831200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:54827600-54831800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:54827600-54832200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr2:54827600-54833000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:54827600-54834000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr2:54827600-54834000	Enhancers	Right Ventricle	heart
48	chr2:54827600-54834400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:54827600-54834400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr2:54827600-54839200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links