Variant report

Variant	rs7658279
Chromosome Location	chr4:99994565-99994566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99985895..99987706-chr4:99994039..99996345,2	K562	blood:
2	chr4:99994512..99996565-chr4:99998521..100000129,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1061187	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11547772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12106	0.82[AMR][1000 genomes]
rs1230154	0.89[AFR][1000 genomes]
rs1230156	0.89[AFR][1000 genomes]
rs12697	0.82[AMR][1000 genomes]
rs13118409	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13119035	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13125919	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13145727	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13146416	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17595424	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1803037	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28730587	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28730591	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28730592	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28730595	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28730602	0.82[AMR][1000 genomes]
rs28730605	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28730632	0.82[AMR][1000 genomes]
rs34766933	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4699699	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4699700	0.82[AMR][1000 genomes]
rs4699701	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6852848	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7658118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7658127	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7662987	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7669660	0.82[AMR][1000 genomes]
rs7683704	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7683802	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7684986	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1005446	chr4:99988287-100121669	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv537196	chr4:99988287-100121669	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99954000-99999200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:99956200-99995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:99959800-100000200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:99971800-99997600	Weak transcription	Spleen	Spleen
5	chr4:99977400-99994800	Weak transcription	Right Atrium	heart
6	chr4:99977400-99996600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:99977400-99996800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:99977400-99997000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:99977600-100008400	Weak transcription	Stomach Mucosa	stomach
10	chr4:99977800-100009000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:99978000-100007800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:99979800-99994800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:99980000-99995000	Weak transcription	Small Intestine	intestine
14	chr4:99980000-99997000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:99981200-99997000	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:99982400-99995000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:99982400-99997000	Weak transcription	Hela-S3	cervix
18	chr4:99982400-100000400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:99982600-99996000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:99982800-99996000	Weak transcription	Gastric	stomach
21	chr4:99982800-100000200	Weak transcription	Psoas Muscle	Psoas
22	chr4:99983000-100004600	Weak transcription	Pancreas	Pancrea
23	chr4:99983200-100000200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:99983200-100008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:99983600-100003400	Weak transcription	Right Ventricle	heart
26	chr4:99983800-99995000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:99984400-99996600	Weak transcription	A549	lung
28	chr4:99985600-100005200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:99985600-100006600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:99986200-99994800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:99987200-100005000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:99987200-100005400	Strong transcription	Dnd41	blood
33	chr4:99987200-100006600	Strong transcription	HSMM	muscle
34	chr4:99987200-100008000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:99987400-100007600	Strong transcription	Fetal Thymus	thymus
36	chr4:99987600-100006000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:99987600-100006600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:99987800-99995800	Strong transcription	Adipose Nuclei	Adipose
39	chr4:99987800-100001000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:99987800-100006800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:99987800-100007000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:99988000-100006800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:99988000-100007000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:99988200-100006400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:99988400-100007000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr4:99988800-100001800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:99989000-100006600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr4:99989000-100006800	Strong transcription	Primary T cells from cord blood	blood
49	chr4:99989200-99994600	Weak transcription	Fetal Brain Male	brain
50	chr4:99989400-100007400	Strong transcription	HMEC	breast

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