Variant report

Variant	rs1993109
Chromosome Location	chr4:151656589-151656590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151651375..151653536-chr4:151655987..151658695,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10000193	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10006912	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10013523	0.99[ASN][1000 genomes]
rs10018648	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025414	0.83[GIH][hapmap]
rs10027710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028965	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10034695	0.98[ASN][1000 genomes]
rs10520078	1.00[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10857249	0.99[ASN][1000 genomes]
rs10857251	0.97[ASN][1000 genomes]
rs11099775	0.95[ASN][1000 genomes]
rs11726025	0.80[ASN][1000 genomes]
rs11934912	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12505967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508892	0.83[GIH][hapmap]
rs12640376	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12641297	0.80[JPT][hapmap];0.94[TSI][hapmap]
rs13103081	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105060	0.87[JPT][hapmap]
rs13112801	0.88[EUR][1000 genomes]
rs13119454	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13121304	0.99[ASN][1000 genomes]
rs13125957	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13128052	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13130300	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13145181	0.99[ASN][1000 genomes]
rs13145482	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1451633	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1451635	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1470763	0.88[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186080	0.89[GIH][hapmap]
rs1947315	0.99[ASN][1000 genomes]
rs2198190	0.96[ASN][1000 genomes]
rs2407549	0.84[EUR][1000 genomes]
rs294532	0.89[GIH][hapmap]
rs4235251	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4309819	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs4318628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4336207	0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4355367	0.83[GIH][hapmap]
rs4455394	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501201	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4533751	0.83[GIH][hapmap]
rs4696220	0.92[GIH][hapmap]
rs4696631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4696633	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6822633	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834834	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835367	1.00[CEU][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.81[TSI][hapmap]
rs6835970	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836017	0.89[GIH][hapmap]
rs6836854	0.84[ASN][1000 genomes]
rs6837840	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6838530	0.97[ASN][1000 genomes]
rs6841524	0.95[ASN][1000 genomes]
rs6847725	0.83[GIH][hapmap]
rs7665654	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7666190	0.98[ASN][1000 genomes]
rs7672144	0.95[ASN][1000 genomes]
rs7683591	0.94[ASN][1000 genomes]
rs7690485	0.99[ASN][1000 genomes]
rs7690977	0.88[EUR][1000 genomes]
rs7691797	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs896405	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9307879	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9884181	0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9884963	0.99[ASN][1000 genomes]
rs9996572	0.99[ASN][1000 genomes]
rs9997773	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1032070	chr4:151514664-151775259	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv830113	chr4:151538184-151691942	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1029861	chr4:151556384-151720601	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151639600-151671400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:151644200-151657400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:151644400-151660800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:151644400-151660800	Weak transcription	Aorta	Aorta
5	chr4:151644400-151663800	Weak transcription	HMEC	breast
6	chr4:151644600-151664200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:151645200-151658200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:151645200-151665800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:151645200-151671000	Weak transcription	Left Ventricle	heart
10	chr4:151645400-151695000	Weak transcription	Esophagus	oesophagus
11	chr4:151645600-151662600	Weak transcription	Pancreas	Pancrea
12	chr4:151645600-151669600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:151645600-151690400	Weak transcription	K562	blood
14	chr4:151645600-151749000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:151646000-151658400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:151647200-151657800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:151647600-151657000	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:151647800-151677600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:151648000-151660800	Weak transcription	GM12878-XiMat	blood
20	chr4:151648000-151664000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:151648000-151676400	Weak transcription	Ovary	ovary
22	chr4:151648200-151658200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:151648200-151703000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:151648600-151664800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:151649400-151657200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:151650600-151666000	Weak transcription	Gastric	stomach
27	chr4:151652000-151657000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:151652200-151660800	Weak transcription	Fetal Intestine Small	intestine
29	chr4:151652800-151658400	Weak transcription	Liver	Liver
30	chr4:151652800-151658600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:151652800-151659800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:151652800-151661800	Weak transcription	Fetal Intestine Large	intestine
33	chr4:151653000-151657200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:151653000-151657800	Weak transcription	Adipose Nuclei	Adipose
35	chr4:151653000-151657800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr4:151653000-151658400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:151653000-151663800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:151653000-151665400	Weak transcription	Dnd41	blood
39	chr4:151653000-151666000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:151653000-151669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr4:151653000-151683800	Weak transcription	Fetal Kidney	kidney
42	chr4:151653000-151692200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr4:151653000-151694400	Weak transcription	Thymus	Thymus
44	chr4:151653000-151749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:151653200-151686000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:151653200-151690600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:151654800-151656600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:151654800-151657000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr4:151655000-151660800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr4:151655200-151657800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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