Variant report

Variant	rs12723208
Chromosome Location	chr1:211510894-211510895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211499439..211506012-chr1:211509469..211515158,9	K562	blood:
2	chr1:211509710..211514697-chr1:211515653..211521116,6	K562	blood:
3	chr1:211509631..211511913-chr1:211521959..211524748,2	K562	blood:
4	chr1:211509250..211511286-chr1:211512898..211514844,2	MCF-7	breast:
5	chr1:211500641..211502521-chr1:211509296..211511473,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082512	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1046690	0.84[EUR][1000 genomes]
rs11119713	0.83[EUR][1000 genomes]
rs11803005	0.83[EUR][1000 genomes]
rs12565472	0.89[CHB][hapmap]
rs12729996	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12731366	0.89[CEU][hapmap];0.81[TSI][hapmap]
rs12743163	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs12743458	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12752670	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12754607	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12754747	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12756590	0.82[EUR][1000 genomes]
rs17188916	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17188937	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17189000	0.82[ASW][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs17267484	0.89[CEU][hapmap];0.89[CHB][hapmap];0.81[EUR][1000 genomes]
rs17267491	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17267554	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17267561	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2280079	0.82[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34027321	0.85[EUR][1000 genomes]
rs34140425	0.86[EUR][1000 genomes]
rs34251608	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34256746	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34440485	0.83[EUR][1000 genomes]
rs34813082	0.83[EUR][1000 genomes]
rs35228985	0.83[EUR][1000 genomes]
rs35711226	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35791308	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35995968	0.81[EUR][1000 genomes]
rs3738200	0.82[ASW][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs41275358	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61848984	0.83[EUR][1000 genomes]
rs6540681	1.00[CEU][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs66526219	0.82[EUR][1000 genomes]
rs6679980	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67764962	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67772854	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71640006	0.87[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12723208	RCOR3	cis	cerebellum	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211501200-211511000	Enhancers	Stomach Mucosa	stomach
2	chr1:211501200-211515200	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr1:211502400-211519000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:211502600-211519000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:211504200-211511000	Weak transcription	Placenta	Placenta
6	chr1:211504800-211513000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:211505000-211518800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:211505000-211530200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:211505800-211511200	Weak transcription	Lung	lung
10	chr1:211505800-211512200	Weak transcription	Fetal Stomach	stomach
11	chr1:211505800-211512800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:211505800-211513000	Weak transcription	NHEK	skin
13	chr1:211505800-211529800	Weak transcription	Ovary	ovary
14	chr1:211506000-211512600	Weak transcription	HSMMtube	muscle
15	chr1:211506000-211512800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:211506000-211514200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:211506000-211517200	Weak transcription	Fetal Lung	lung
18	chr1:211506000-211518800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:211506200-211514400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:211506200-211517400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:211506600-211512200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:211506600-211515200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:211506600-211516800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:211507200-211514400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:211507800-211519000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:211508000-211511400	Enhancers	Colonic Mucosa	Colon
27	chr1:211508000-211515200	Enhancers	Pancreas	Pancrea
28	chr1:211508200-211511200	Enhancers	Gastric	stomach
29	chr1:211508400-211519000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:211509000-211511600	Enhancers	Left Ventricle	heart
31	chr1:211509200-211511800	Enhancers	Thymus	Thymus
32	chr1:211509200-211512800	Weak transcription	Esophagus	oesophagus
33	chr1:211509200-211518800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:211509400-211511400	Enhancers	Primary hematopoietic stem cells	blood
35	chr1:211509400-211516600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:211509400-211519000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:211509600-211511200	Enhancers	Fetal Thymus	thymus
38	chr1:211509600-211511800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr1:211509600-211512400	Weak transcription	Hela-S3	cervix
40	chr1:211509600-211514200	Weak transcription	K562	blood
41	chr1:211509600-211515400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:211509600-211519000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:211509800-211511000	Enhancers	Adipose Nuclei	Adipose
44	chr1:211509800-211511200	Enhancers	Duodenum Mucosa	Duodenum
45	chr1:211509800-211511400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:211509800-211512200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:211509800-211512400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:211509800-211512400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr1:211509800-211512600	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:211509800-211512800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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