Variant report

Variant	rs7608657
Chromosome Location	chr2:172874512-172874513
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172872127..172874571-chr2:172915848..172917626,2	MCF-7	breast:
2	chr2:172864725..172866652-chr2:172872084..172875231,3	MCF-7	breast:
3	chr2:172872941..172875027-chr2:172948561..172950206,2	MCF-7	breast:
4	chr2:172862481..172869340-chr2:172872333..172878575,9	MCF-7	breast:
5	chr2:172873033..172874674-chr2:172958655..172960495,2	MCF-7	breast:
6	chr2:172872334..172876033-chr2:172959738..172961363,3	MCF-7	breast:
7	chr2:172872328..172874870-chr2:172965765..172968527,2	MCF-7	breast:
8	chr2:172872308..172874513-chr2:172883342..172886066,2	MCF-7	breast:
9	chr2:172872086..172874566-chr2:172886607..172888423,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115844	Chromatin interaction
ENSG00000115840	Chromatin interaction
ENSG00000236651	Chromatin interaction
ENSG00000144355	Chromatin interaction
ENSG00000172878	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1105265	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs34070184	1.00[AFR][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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv3031	chr2:172867462-172884232	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172865200-172886600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172865400-172877200	Weak transcription	Pancreas	Pancrea
3	chr2:172865400-172878000	Weak transcription	Gastric	stomach
4	chr2:172865600-172875200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:172865600-172876600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:172865600-172877200	Weak transcription	Psoas Muscle	Psoas
7	chr2:172865600-172878000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:172865600-172897400	Weak transcription	Primary T cells from cord blood	blood
9	chr2:172865800-172876600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:172865800-172877200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:172865800-172877600	Weak transcription	Fetal Kidney	kidney
12	chr2:172865800-172878000	Weak transcription	Primary B cells from cord blood	blood
13	chr2:172865800-172886400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:172865800-172886600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:172866000-172876400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:172866000-172877200	Weak transcription	Ovary	ovary
17	chr2:172866000-172877600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:172866000-172877800	Weak transcription	HSMM	muscle
19	chr2:172866000-172878000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:172866000-172886800	Weak transcription	HSMMtube	muscle
21	chr2:172866200-172876400	Weak transcription	Dnd41	blood
22	chr2:172866200-172877000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:172866400-172875800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:172866800-172882600	Weak transcription	K562	blood
25	chr2:172869600-172877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:172870000-172875400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:172873000-172875000	Enhancers	HMEC	breast
28	chr2:172873200-172874600	Enhancers	A549	lung
29	chr2:172873200-172875000	Enhancers	NHEK	skin
30	chr2:172873400-172875000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:172873600-172874800	Enhancers	Hela-S3	cervix
32	chr2:172873800-172877200	Weak transcription	HepG2	liver
33	chr2:172874000-172877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:172874200-172878000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:172874200-172886400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:172874400-172875000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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