Variant report

Variant	rs28595493
Chromosome Location	chr7:116604004-116604005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:116603076..116605553-chr7:116605609..116607830,2	K562	blood:
2	chr7:116602118..116604576-chr7:116605305..116607830,2	K562	blood:
3	chr7:116601928..116605618-chr7:116612241..116614955,3	MCF-7	breast:
4	chr7:116601473..116604004-chr7:116608166..116610648,2	K562	blood:
5	chr7:116602049..116604821-chr7:116607267..116608809,2	MCF-7	breast:
6	7:115847372-115857098..7:116599334-116604327	K562	blood:
7	chr7:116590784..116596766-chr7:116599392..116609813,21	MCF-7	breast:
8	7:116599334-116604327..7:116754962-116765597	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000214188	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000228368	Chromatin interaction
ENSG00000213050	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000227199	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10233410	1.00[AFR][1000 genomes]
rs10241002	0.92[AFR][1000 genomes]
rs10251673	0.82[AFR][1000 genomes]
rs10259701	0.83[AMR][1000 genomes]
rs10261102	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17139275	0.97[AFR][1000 genomes]
rs17438522	0.85[AFR][1000 genomes]
rs28428685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28437308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28573769	1.00[AFR][1000 genomes]
rs28875777	0.94[AFR][1000 genomes]
rs73472894	0.83[AMR][1000 genomes]
rs73473260	0.83[AMR][1000 genomes]
rs73475024	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116595000-116608600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:116595200-116621600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:116595400-116608600	Weak transcription	HSMM	muscle
4	chr7:116595600-116617200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:116596400-116616600	Weak transcription	Osteobl	bone
6	chr7:116596400-116622200	Weak transcription	Fetal Intestine Large	intestine
7	chr7:116596600-116606600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:116596600-116606800	Weak transcription	Hela-S3	cervix
9	chr7:116596600-116612000	Weak transcription	Fetal Intestine Small	intestine
10	chr7:116596600-116617400	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:116596800-116606200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:116596800-116606800	Weak transcription	Psoas Muscle	Psoas
13	chr7:116596800-116607200	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:116596800-116609600	Weak transcription	Right Atrium	heart
15	chr7:116596800-116609600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:116596800-116617200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:116597000-116641600	Weak transcription	Ovary	ovary
18	chr7:116597200-116610000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:116597800-116610200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:116598200-116607400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:116598400-116610400	Weak transcription	HepG2	liver
22	chr7:116598400-116617600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:116598800-116609800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:116598800-116609800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:116598800-116610400	Weak transcription	Left Ventricle	heart
26	chr7:116598800-116630400	Weak transcription	Aorta	Aorta
27	chr7:116599200-116611800	Weak transcription	Right Ventricle	heart
28	chr7:116599600-116609600	Weak transcription	K562	blood
29	chr7:116600600-116607200	Weak transcription	Pancreas	Pancrea
30	chr7:116600600-116613400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:116600600-116620200	Weak transcription	Lung	lung
32	chr7:116602800-116604600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:116603000-116604200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:116603400-116617800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:116603600-116604600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr7:116603600-116604600	Enhancers	GM12878-XiMat	blood
37	chr7:116603600-116610600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:116603800-116606600	Weak transcription	Fetal Heart	heart

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