Variant report

Variant	rs7955513
Chromosome Location	chr12:122974253-122974254
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	chr12:122972183..122974885-chr12:123005159..123006842,2	K562	blood:
2	chr12:122962859..122966810-chr12:122974008..122976881,3	MCF-7	breast:
3	chr12:122974150..122975877-chr12:122979384..122982110,2	MCF-7	breast:
4	chr12:122963986..122965656-chr12:122973612..122975315,2	K562	blood:
5	chr12:122970449..122974618-chr12:122982583..122986938,8	K562	blood:
6	chr12:122958231..122960077-chr12:122973422..122975272,2	K562	blood:
7	chr12:122963986..122969547-chr12:122973025..122978031,11	K562	blood:
8	chr12:122961001..122963947-chr12:122971882..122974481,2	MCF-7	breast:
9	chr12:122906314..122908348-chr12:122972318..122974473,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000111011	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10161184	0.82[CHB][hapmap]
rs10744242	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10773117	0.86[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap]
rs10773230	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes]
rs10846714	0.86[CHB][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap]
rs10846912	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10846968	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10846993	0.98[ASN][1000 genomes]
rs10847090	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11058272	0.81[ASN][1000 genomes]
rs11058362	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11058398	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11058562	0.90[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs11610303	0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes]
rs11615830	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12371048	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12812332	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12817342	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs12825762	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12828165	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1392142	0.86[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap]
rs1532578	0.91[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes]
rs1532579	0.86[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap]
rs1553178	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2133557	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3825096	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4356269	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4758657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4758660	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]
rs4758692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4758695	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs57311174	0.88[EUR][1000 genomes]
rs58600355	0.88[EUR][1000 genomes]
rs61956098	0.85[AMR][1000 genomes]
rs61956119	0.94[EUR][1000 genomes]
rs6416295	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488947	0.86[CHB][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap]
rs6489014	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489051	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6489056	0.95[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes]
rs7132830	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7134381	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7136564	0.92[EUR][1000 genomes]
rs7296680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7297866	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7298839	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7303688	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307867	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7311573	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486949	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7959550	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7961258	0.86[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap]
rs7964138	0.83[ASW][hapmap];0.91[YRI][hapmap]
rs7967928	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9788228	0.81[CHD][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7955513	C12orf43	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122955200-122983400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122955200-122983400	Strong transcription	Fetal Thymus	thymus
3	chr12:122955600-122980800	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:122955600-122981200	Strong transcription	Dnd41	blood
5	chr12:122955600-122982200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:122955600-122982600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:122955800-122977600	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr12:122956200-122984000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:122956600-122982400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:122956600-122982800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:122956600-122983000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:122957000-122977600	Strong transcription	Thymus	Thymus
13	chr12:122957000-122977800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:122957000-122978200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:122957000-122981200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:122957000-122981600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:122957000-122981800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:122957000-122982600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr12:122957200-122977000	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr12:122957200-122977600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:122957200-122977600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:122957200-122977600	Strong transcription	Adipose Nuclei	Adipose
23	chr12:122957200-122977600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr12:122957200-122977800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:122957200-122977800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:122957200-122977800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:122957200-122978000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:122957200-122978400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr12:122957200-122979600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:122957200-122981400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:122957200-122982000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:122957200-122983000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:122957400-122977600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:122957400-122978000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:122957400-122980600	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:122957400-122981200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:122957600-122974400	Strong transcription	Fetal Brain Female	brain
38	chr12:122957600-122977000	Strong transcription	Brain Germinal Matrix	brain
39	chr12:122957600-122977600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:122957600-122978800	Strong transcription	Brain Anterior Caudate	brain
41	chr12:122957800-122977200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:122957800-122977200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr12:122957800-122977200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr12:122957800-122977800	Strong transcription	Primary B cells from cord blood	blood
45	chr12:122957800-122977800	Strong transcription	Primary T cells from cord blood	blood
46	chr12:122957800-122977800	Strong transcription	Placenta	Placenta
47	chr12:122958000-122977000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:122958000-122982600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:122958600-122981000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:122959400-122984000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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