Variant report

Variant	rs11174573
Chromosome Location	chr12:63025102-63025103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62995953..62998140-chr12:63024732..63027411,2	MCF-7	breast:
2	chr12:62994967..62998592-chr12:63024952..63028026,5	MCF-7	breast:
3	chr12:63013376..63014961-chr12:63023890..63026114,2	K562	blood:
4	chr12:63023335..63025225-chr12:63026338..63028730,2	K562	blood:

Variant related genes	Relation type
ENSG00000257354	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000199179	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10877888	0.81[JPT][hapmap]
rs10877889	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10877894	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10877895	0.81[CHB][hapmap]
rs10877900	0.91[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174572	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11174577	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12308388	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12822171	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1498712	0.95[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2048499	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs2132358	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2133302	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7137950	0.91[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7968360	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11174573	MYO1A	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63010200-63025200	Weak transcription	HSMMtube	muscle
2	chr12:63013800-63025200	Weak transcription	Right Atrium	heart
3	chr12:63019600-63025400	Weak transcription	Pancreas	Pancrea
4	chr12:63019800-63025200	Weak transcription	Liver	Liver
5	chr12:63019800-63025800	Weak transcription	Placenta	Placenta
6	chr12:63021400-63025200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:63022200-63025600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:63022600-63025400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:63022600-63027000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:63023600-63025400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:63023800-63025400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr12:63023800-63025400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr12:63023800-63025400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:63024000-63025200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:63024000-63025200	Enhancers	Brain Cingulate Gyrus	brain
16	chr12:63024000-63025200	Enhancers	HMEC	breast
17	chr12:63024000-63025400	Enhancers	NHEK	skin
18	chr12:63024200-63025200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr12:63024200-63025200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr12:63024200-63025200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:63024200-63025400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:63024400-63025200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:63024400-63025200	Enhancers	Fetal Brain Male	brain
24	chr12:63024400-63025400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr12:63024400-63025400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:63024400-63025600	Weak transcription	Lung	lung
27	chr12:63024600-63025200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:63024600-63025400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
29	chr12:63024600-63025800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:63024600-63026600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:63024800-63025200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
32	chr12:63024800-63025200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:63024800-63025200	Enhancers	NHLF	lung
34	chr12:63024800-63025400	Enhancers	Brain Substantia Nigra	brain
35	chr12:63025000-63025200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
36	chr12:63025000-63025200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr12:63025000-63025200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:63025000-63025200	Enhancers	Adipose Nuclei	Adipose
39	chr12:63025000-63025200	Enhancers	Colon Smooth Muscle	Colon
40	chr12:63025000-63025200	Enhancers	Fetal Kidney	kidney
41	chr12:63025000-63025200	Enhancers	Fetal Muscle Leg	muscle
42	chr12:63025000-63025200	Bivalent/Poised TSS	Stomach Mucosa	stomach
43	chr12:63025000-63025200	Enhancers	HepG2	liver
44	chr12:63025000-63025200	Enhancers	HSMM	muscle
45	chr12:63025000-63025400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr12:63025000-63025400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:63025000-63025400	Flanking Active TSS	Fetal Brain Female	brain
48	chr12:63025000-63025400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr12:63025000-63025400	Bivalent Enhancer	Fetal Stomach	stomach
50	chr12:63025000-63025400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links