Variant report

Variant	rs4915735
Chromosome Location	chr1:61808444-61808445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11207728	0.86[ASN][1000 genomes]
rs1125778	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12066006	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12134760	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12741051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12758060	0.90[ASN][1000 genomes]
rs1344420	0.86[ASN][1000 genomes]
rs1344421	0.86[ASN][1000 genomes]
rs1474873	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2103882	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2180198	0.86[ASN][1000 genomes]
rs2180199	0.86[ASN][1000 genomes]
rs2180200	0.86[ASN][1000 genomes]
rs2207788	0.86[ASN][1000 genomes]
rs2364467	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2886080	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4406666	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4915737	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6587917	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6587918	0.86[ASN][1000 genomes]
rs6587919	0.83[ASN][1000 genomes]
rs6587920	0.86[ASN][1000 genomes]
rs6587921	0.86[ASN][1000 genomes]
rs6662305	0.86[ASN][1000 genomes]
rs6673795	0.86[ASN][1000 genomes]
rs6674884	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6697762	0.86[ASN][1000 genomes]
rs6697777	0.86[ASN][1000 genomes]
rs6697913	0.83[ASN][1000 genomes]
rs6697955	0.83[ASN][1000 genomes]
rs7512491	0.86[ASN][1000 genomes]
rs7526670	0.86[ASN][1000 genomes]
rs7553582	0.86[ASN][1000 genomes]
rs9436206	0.88[AMR][1000 genomes]
rs9436635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9436637	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers 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 miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases
10	nsv1014023	chr1:61788310-61859074	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv534981	chr1:61788310-61859074	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61786000-61813600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:61801000-61818600	Weak transcription	K562	blood
3	chr1:61801200-61824600	Weak transcription	Gastric	stomach
4	chr1:61803000-61816200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:61804000-61809000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:61804000-61809000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:61804000-61813200	Weak transcription	Fetal Intestine Large	intestine
8	chr1:61804000-61813200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:61804200-61812400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:61804200-61813200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:61804400-61808600	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:61804400-61809000	Weak transcription	Ovary	ovary
13	chr1:61804400-61809200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:61804400-61809200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:61804400-61809400	Weak transcription	Brain Substantia Nigra	brain
16	chr1:61804400-61809800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:61804400-61818200	Weak transcription	Fetal Brain Male	brain
18	chr1:61804400-61818400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:61804400-61818400	Weak transcription	Hela-S3	cervix
20	chr1:61804400-61851400	Weak transcription	Small Intestine	intestine
21	chr1:61804400-61854600	Weak transcription	Placenta	Placenta
22	chr1:61804600-61808600	Weak transcription	Fetal Kidney	kidney
23	chr1:61804600-61809000	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:61804600-61809400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:61804600-61813200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:61804600-61818200	Weak transcription	Brain Angular Gyrus	brain
27	chr1:61804800-61808800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:61804800-61809000	Weak transcription	Aorta	Aorta
29	chr1:61804800-61813200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:61804800-61813200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:61804800-61822800	Weak transcription	Fetal Stomach	stomach
32	chr1:61805000-61809200	Weak transcription	Adipose Nuclei	Adipose
33	chr1:61805000-61809400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:61805000-61810000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:61805000-61810200	Weak transcription	Stomach Mucosa	stomach
36	chr1:61805000-61818200	Weak transcription	A549	lung
37	chr1:61805000-61818400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:61805200-61810000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:61805600-61813200	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:61805600-61817600	Weak transcription	HUVEC	blood vessel
41	chr1:61805800-61808600	Weak transcription	Liver	Liver
42	chr1:61805800-61809200	Weak transcription	Fetal Lung	lung
43	chr1:61805800-61809400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:61805800-61809400	Weak transcription	Right Atrium	heart
45	chr1:61805800-61809800	Weak transcription	HMEC	breast
46	chr1:61805800-61810000	Weak transcription	NHEK	skin
47	chr1:61805800-61813400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:61805800-61818000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:61805800-61818200	Weak transcription	Esophagus	oesophagus
50	chr1:61805800-61818600	Weak transcription	Lung	lung

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