Variant report

Variant	rs4658270
Chromosome Location	chr1:92258782-92258783
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	chr1:92258357..92261493-chr1:92263209..92266078,3	K562	blood:
2	chr1:92258357..92261637-chr1:92263209..92266078,4	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10493859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11165546	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11466567	0.85[AMR][1000 genomes]
rs11578569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11804539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12118714	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12123363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12134037	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12751910	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs1473768	0.84[EUR][1000 genomes]
rs1556192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17443164	1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs17515100	1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2046738	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2489179	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2810884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2996482	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4658114	0.81[EUR][1000 genomes]
rs4658269	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs4658273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs4658274	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60673098	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6604052	0.80[EUR][1000 genomes]
rs6604053	1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs71650466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv1012134	chr1:92235485-92598800	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv546818	chr1:92236048-92579206	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription 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	13 gene(s)	inside rSNPs	diseases
20	nsv546819	chr1:92256626-92558583	Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92245200-92261200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:92248200-92268800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:92248600-92262800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:92248600-92268800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:92249200-92263800	Weak transcription	Aorta	Aorta
6	chr1:92250400-92263800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:92253200-92263600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:92253800-92259400	Enhancers	Fetal Kidney	kidney
9	chr1:92254000-92259000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:92254000-92269400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:92254600-92259200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:92255000-92258800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:92255000-92259000	Enhancers	Fetal Heart	heart
14	chr1:92255400-92258800	Enhancers	Fetal Lung	lung
15	chr1:92255600-92259000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:92255800-92258800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:92255800-92258800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:92255800-92258800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:92255800-92258800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr1:92255800-92258800	Enhancers	Rectal Smooth Muscle	rectum
21	chr1:92255800-92258800	Genic enhancers	HepG2	liver
22	chr1:92255800-92258800	Enhancers	K562	blood
23	chr1:92255800-92259000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:92256000-92258800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:92256000-92260600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:92256400-92259000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr1:92256400-92259200	Enhancers	Placenta	Placenta
28	chr1:92256600-92258800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr1:92256800-92258800	Enhancers	Psoas Muscle	Psoas
30	chr1:92256800-92259200	Enhancers	Fetal Muscle Leg	muscle
31	chr1:92257000-92258800	Enhancers	Adipose Nuclei	Adipose
32	chr1:92257000-92259000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:92257200-92259000	Enhancers	Ovary	ovary
34	chr1:92257600-92258800	Enhancers	Fetal Stomach	stomach
35	chr1:92257600-92260200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:92257600-92264000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:92257600-92279400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:92257800-92259400	Enhancers	NHDF-Ad	bronchial
39	chr1:92257800-92260400	Weak transcription	Osteobl	bone
40	chr1:92257800-92261000	Weak transcription	Liver	Liver
41	chr1:92257800-92262800	Weak transcription	Lung	lung
42	chr1:92257800-92269600	Weak transcription	A549	lung
43	chr1:92258000-92258800	Enhancers	HUVEC	blood vessel
44	chr1:92258000-92260200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:92258000-92260600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:92258000-92260800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:92258000-92261400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:92258000-92261400	Weak transcription	Right Atrium	heart
49	chr1:92258000-92262800	Weak transcription	Spleen	Spleen
50	chr1:92258000-92263800	Weak transcription	Esophagus	oesophagus

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