Variant report

Variant	rs2970578
Chromosome Location	chr1:212098460-212098461
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211848815..211850786-chr1:212097996..212100036,2	K562	blood:
2	chr1:212092565..212095366-chr1:212097974..212099950,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117650	Chromatin interaction
ENSG00000231057	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11119813	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs1157168	0.86[JPT][hapmap]
rs12076991	0.86[JPT][hapmap]
rs12084756	0.86[JPT][hapmap]
rs12095938	0.86[JPT][hapmap]
rs2788123	0.88[JPT][hapmap]
rs2998419	0.83[ASN][1000 genomes]
rs3738197	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs3862952	0.86[JPT][hapmap]
rs6540709	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs6664082	0.86[JPT][hapmap]
rs6666948	1.00[JPT][hapmap]
rs6684049	0.86[JPT][hapmap]
rs6704043	1.00[JPT][hapmap]
rs7518896	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs7524009	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs7534064	0.81[AMR][1000 genomes]
rs7534335	0.86[JPT][hapmap]
rs7547097	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2970578	INTS7	Cis_1M	lymphoblastoid	RTeQTL
rs2970578	MAPKAPK2	cis	parietal	SCAN
rs2970578	PROX1	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212084800-212113000	Weak transcription	Brain Anterior Caudate	brain
2	chr1:212085400-212101800	Weak transcription	Colonic Mucosa	Colon
3	chr1:212088000-212099200	Enhancers	Fetal Intestine Large	intestine
4	chr1:212088600-212099200	Enhancers	Fetal Intestine Small	intestine
5	chr1:212091000-212102200	Weak transcription	Esophagus	oesophagus
6	chr1:212093800-212101800	Weak transcription	Gastric	stomach
7	chr1:212094200-212103200	Weak transcription	Small Intestine	intestine
8	chr1:212094400-212101400	Weak transcription	Stomach Mucosa	stomach
9	chr1:212094400-212102200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:212095400-212101800	Weak transcription	Right Atrium	heart
11	chr1:212096200-212098800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:212096600-212101800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:212096800-212098800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:212097200-212098600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:212098000-212098800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:212098000-212099200	Enhancers	Fetal Muscle Leg	muscle
17	chr1:212098200-212098600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:212098200-212098600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:212098200-212098800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr1:212098400-212098600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr1:212098400-212098600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:212098400-212098800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:212098400-212098800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:212098400-212098800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:212098400-212098800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr1:212098400-212098800	Flanking Active TSS	Hela-S3	cervix
27	chr1:212098400-212098800	Enhancers	HepG2	liver
28	chr1:212098400-212098800	Enhancers	HMEC	breast
29	chr1:212098400-212098800	Enhancers	K562	blood
30	chr1:212098400-212098800	Enhancers	NHEK	skin
31	chr1:212098400-212099000	Enhancers	Brain Germinal Matrix	brain
32	chr1:212098400-212099000	Enhancers	A549	lung
33	chr1:212098400-212099600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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