Variant report

Variant	rs7588029
Chromosome Location	chr2:11472873-11472874
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11294029..11296824-chr2:11471660..11473792,2	K562	blood:
2	chr2:11471245..11477004-chr2:11481417..11486329,8	MCF-7	breast:
3	chr2:11472516..11476992-chr2:11482916..11485822,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162976	Chromatin interaction
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57401515	1.00[AMR][1000 genomes]
rs58964813	1.00[AMR][1000 genomes]
rs6728525	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6734672	1.00[AMR][1000 genomes]
rs6735686	1.00[AMR][1000 genomes]
rs73915391	1.00[AMR][1000 genomes]
rs73915392	1.00[AMR][1000 genomes]
rs7580639	1.00[AMR][1000 genomes]
rs7592172	1.00[AMR][1000 genomes]

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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11457200-11476400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:11461000-11476400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:11464400-11475200	Weak transcription	Aorta	Aorta
4	chr2:11467000-11480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:11467400-11481200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:11467600-11481600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:11467800-11473400	Weak transcription	Adipose Nuclei	Adipose
8	chr2:11467800-11480200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:11468000-11476400	Weak transcription	Psoas Muscle	Psoas
10	chr2:11468400-11481200	Weak transcription	HUVEC	blood vessel
11	chr2:11470200-11473800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:11470400-11479800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:11470400-11481400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:11470600-11475200	Weak transcription	Osteobl	bone
15	chr2:11470800-11473400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:11470800-11473400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:11470800-11473600	Weak transcription	K562	blood
18	chr2:11470800-11475000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:11470800-11475200	Weak transcription	NHDF-Ad	bronchial
20	chr2:11470800-11475800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:11470800-11481200	Weak transcription	Right Atrium	heart
22	chr2:11470800-11481800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:11471000-11474800	Weak transcription	Ovary	ovary
24	chr2:11471000-11481200	Weak transcription	HSMM	muscle
25	chr2:11471200-11478600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:11471200-11480400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:11471400-11473000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:11471400-11475800	Enhancers	Liver	Liver
29	chr2:11471600-11477000	Enhancers	HepG2	liver
30	chr2:11472200-11473000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:11472200-11476400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:11472200-11476400	Weak transcription	Pancreas	Pancrea
33	chr2:11472200-11482800	Weak transcription	Gastric	stomach
34	chr2:11472400-11474400	ZNF genes & repeats	A549	lung
35	chr2:11472600-11473400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:11472800-11473000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:11472800-11473200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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