Variant report

Variant	rs7579511
Chromosome Location	chr2:153393015-153393016
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	chr2:153392705..153395187-chr2:153396758..153399412,2	K562	blood:
2	chr2:153392705..153395187-chr2:153396758..153400553,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10207275	0.84[MEX][hapmap]
rs1155778	0.92[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1529998	0.86[ASN][1000 genomes]
rs16831263	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16831391	0.82[MEX][hapmap]
rs2577175	0.86[ASN][1000 genomes]
rs2577177	0.89[ASN][1000 genomes]
rs2577178	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2577181	0.89[MEX][hapmap];0.88[AMR][1000 genomes]
rs2678294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678302	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4664111	0.87[TSI][hapmap]
rs4664594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56281840	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709843	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713711	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6739300	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6739557	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72868235	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7591606	0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153382400-153393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:153382400-153398800	Weak transcription	Fetal Intestine Small	intestine
4	chr2:153383000-153403000	Weak transcription	Right Atrium	heart
5	chr2:153383200-153393200	Weak transcription	NHEK	skin
6	chr2:153384000-153398200	Weak transcription	HMEC	breast
7	chr2:153386200-153399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:153386200-153399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:153386800-153400000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:153389000-153398200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:153389800-153396200	Enhancers	Brain Hippocampus Middle	brain
12	chr2:153390400-153396400	Enhancers	Brain Anterior Caudate	brain
13	chr2:153390400-153399000	Enhancers	Brain Substantia Nigra	brain
14	chr2:153390600-153394400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:153390800-153393400	Enhancers	Ovary	ovary
16	chr2:153390800-153395000	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:153391200-153394200	Enhancers	Fetal Muscle Leg	muscle
18	chr2:153391200-153394400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:153391400-153394800	Enhancers	Brain Angular Gyrus	brain
20	chr2:153391400-153403800	Weak transcription	Fetal Brain Female	brain
21	chr2:153391600-153398800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:153391800-153393400	Enhancers	Colon Smooth Muscle	Colon
23	chr2:153391800-153393600	Enhancers	Adipose Nuclei	Adipose
24	chr2:153391800-153393800	Weak transcription	Aorta	Aorta
25	chr2:153391800-153398000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:153391800-153399000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:153392000-153393400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:153392000-153393600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:153392000-153398200	Weak transcription	HepG2	liver
30	chr2:153392000-153398400	Weak transcription	NHDF-Ad	bronchial
31	chr2:153392200-153394000	Enhancers	Fetal Stomach	stomach
32	chr2:153392600-153393400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:153392600-153393800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:153392600-153394000	Enhancers	Fetal Brain Male	brain
35	chr2:153392600-153394200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:153392800-153394000	Enhancers	Fetal Kidney	kidney
37	chr2:153392800-153394000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:153392800-153398800	Weak transcription	Placenta	Placenta
39	chr2:153392800-153400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:153392800-153401200	Weak transcription	Psoas Muscle	Psoas
41	chr2:153392800-153402800	Weak transcription	Fetal Intestine Large	intestine
42	chr2:153392800-153404600	Weak transcription	Left Ventricle	heart
43	chr2:153393000-153394000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:153393000-153394000	Enhancers	Fetal Lung	lung
45	chr2:153393000-153398400	Weak transcription	Rectal Smooth Muscle	rectum

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