Variant report

Variant	rs719392
Chromosome Location	chr4:144281231-144281232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144280022..144283375-chr4:144285064..144288406,3	K562	blood:
2	chr4:144279254..144282177-chr4:144295139..144296728,2	MCF-7	breast:
3	chr4:144272912..144279199-chr4:144279482..144284125,11	K562	blood:
4	chr4:144264438..144268402-chr4:144278355..144282865,4	K562	blood:
5	chr4:144275276..144278433-chr4:144281060..144283410,4	MCF-7	breast:
6	chr4:144127423..144129387-chr4:144280177..144281782,2	K562	blood:
7	chr4:144279896..144282516-chr4:144316177..144318703,2	K562	blood:

Variant related genes	Relation type
ENSG00000265623	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10013047	0.96[ASN][1000 genomes]
rs1027851	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1027852	0.96[ASN][1000 genomes]
rs10519691	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs11100786	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11100787	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11100788	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11100789	0.81[ASN][1000 genomes]
rs11730569	0.95[ASN][1000 genomes]
rs11945731	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12647531	0.95[ASN][1000 genomes]
rs12649592	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13101346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123498	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1397526	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1397527	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1397528	1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs1472873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1510879	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1510880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1866756	0.96[ASN][1000 genomes]
rs2048408	0.94[ASN][1000 genomes]
rs2055730	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2119270	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2196908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2196909	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300890	0.84[JPT][hapmap]
rs300893	0.84[JPT][hapmap]
rs300894	0.84[JPT][hapmap]
rs300895	0.84[JPT][hapmap]
rs300904	0.84[JPT][hapmap]
rs300905	0.84[JPT][hapmap]
rs300910	0.90[ASN][1000 genomes]
rs300911	0.81[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs300912	0.80[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs300913	0.89[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs300914	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs300915	0.89[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs300916	0.89[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs300917	0.89[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs300918	0.83[ASN][1000 genomes]
rs300919	0.84[JPT][hapmap]
rs34095331	0.85[ASN][1000 genomes]
rs34439737	0.89[ASN][1000 genomes]
rs3792652	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3792653	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3792655	0.95[ASN][1000 genomes]
rs3805238	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs3805245	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3805246	0.95[ASN][1000 genomes]
rs3805247	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3805249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3805251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805252	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3805256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805257	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3828512	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3828513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3828514	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55758499	0.95[ASN][1000 genomes]
rs55894236	0.95[ASN][1000 genomes]
rs6537154	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6537155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs713140	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7679870	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7680959	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs906571	0.95[ASN][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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1026110	chr4:144239825-144292148	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144272000-144281400	Enhancers	Brain Substantia Nigra	brain
2	chr4:144272800-144284600	Enhancers	Fetal Intestine Small	intestine
3	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:144275800-144283000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:144276200-144283000	Enhancers	HMEC	breast
6	chr4:144276400-144286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:144276800-144284800	Weak transcription	Lung	lung
8	chr4:144277000-144282600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:144277000-144282800	Enhancers	Fetal Lung	lung
10	chr4:144277200-144281800	Weak transcription	HSMM	muscle
11	chr4:144277200-144284000	Enhancers	Fetal Intestine Large	intestine
12	chr4:144277200-144290400	Weak transcription	Pancreas	Pancrea
13	chr4:144277400-144296800	Weak transcription	HSMMtube	muscle
14	chr4:144278000-144282200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:144278200-144285400	Enhancers	Fetal Heart	heart
16	chr4:144279000-144283600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:144279600-144281400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr4:144279600-144281400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:144279600-144281400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:144279600-144281400	Enhancers	Fetal Kidney	kidney
21	chr4:144279600-144281600	Enhancers	Brain Angular Gyrus	brain
22	chr4:144279600-144282600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:144279600-144283000	Enhancers	NHDF-Ad	bronchial
24	chr4:144279600-144284200	Enhancers	Brain Anterior Caudate	brain
25	chr4:144279800-144281400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr4:144279800-144281400	Enhancers	Stomach Mucosa	stomach
27	chr4:144279800-144283400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:144279800-144286000	Enhancers	Brain Cingulate Gyrus	brain
29	chr4:144280000-144281400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr4:144280000-144281600	Enhancers	NH-A	brain
31	chr4:144280000-144282800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr4:144280000-144283000	Enhancers	Adipose Nuclei	Adipose
33	chr4:144280000-144283200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr4:144280000-144283400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr4:144280200-144281400	Enhancers	Aorta	Aorta
36	chr4:144280200-144281600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:144280200-144285400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr4:144280400-144281400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr4:144280400-144281400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr4:144280400-144281400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr4:144280400-144281600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:144280400-144282800	Weak transcription	Brain Germinal Matrix	brain
43	chr4:144280400-144284400	Enhancers	Colon Smooth Muscle	Colon
44	chr4:144280400-144285600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:144280600-144281400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:144280600-144283000	Enhancers	Osteobl	bone
47	chr4:144280800-144281400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:144280800-144281400	Enhancers	Primary B cells from peripheral blood	blood
49	chr4:144280800-144281400	Enhancers	Primary T cells from cord blood	blood
50	chr4:144280800-144281800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links