Variant report

Variant	rs12311077
Chromosome Location	chr12:32766526-32766527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1004969	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052111	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052112	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052113	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052115	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052116	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052119	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299270	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299609	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299979	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300443	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300477	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300666	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300734	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307670	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307858	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312688	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312968	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314101	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314420	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314569	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321158	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321285	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322190	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16920101	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17539491	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17539792	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17539848	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995226	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995227	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133543	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34174320	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4575368	1.00[ASN][1000 genomes]
rs4931029	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931030	1.00[ASN][1000 genomes]
rs4931031	1.00[ASN][1000 genomes]
rs4931644	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931645	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931646	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931647	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55938059	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56110646	1.00[ASN][1000 genomes]
rs56150065	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56352987	1.00[ASN][1000 genomes]
rs59860008	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66996003	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083459	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083465	0.87[EUR][1000 genomes]
rs73083468	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083477	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083486	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083489	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083495	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083501	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085430	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085442	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73087441	1.00[ASN][1000 genomes]
rs73087445	1.00[ASN][1000 genomes]
rs7488806	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv527786	chr12:32761558-32771912	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
3	chr12:32720200-32778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:32722600-32779400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:32725200-32778600	Weak transcription	Fetal Brain Male	brain
6	chr12:32741800-32769600	Weak transcription	Stomach Mucosa	stomach
7	chr12:32744200-32797600	Weak transcription	Fetal Heart	heart
8	chr12:32750000-32770400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:32753000-32774200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:32754200-32795200	Weak transcription	Primary B cells from cord blood	blood
11	chr12:32754600-32766800	Weak transcription	NH-A	brain
12	chr12:32755000-32775800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:32755400-32800600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:32756200-32789800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr12:32756800-32767400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr12:32757000-32783400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:32757400-32767400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr12:32757400-32799600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:32757600-32767600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr12:32757600-32798000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:32757800-32767200	Weak transcription	NHDF-Ad	bronchial
22	chr12:32757800-32771200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:32757800-32778800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:32757800-32797800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:32758400-32799400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:32758600-32780800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:32758600-32797800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:32758600-32799600	Strong transcription	Liver	Liver
29	chr12:32758600-32800400	Strong transcription	HSMM	muscle
30	chr12:32758800-32770600	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr12:32758800-32799600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:32759400-32767600	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr12:32759400-32769600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:32759600-32767800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:32759800-32795000	Weak transcription	Fetal Kidney	kidney
36	chr12:32760200-32795000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:32760600-32767200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:32760600-32793200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:32761000-32767400	Strong transcription	Placenta	Placenta
40	chr12:32761000-32768200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:32762800-32799600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:32763800-32767400	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr12:32764000-32767600	Strong transcription	Fetal Intestine Large	intestine
44	chr12:32764200-32767400	Strong transcription	Fetal Stomach	stomach
45	chr12:32764200-32767600	Strong transcription	Stomach Smooth Muscle	stomach
46	chr12:32764400-32767400	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:32764600-32766600	Genic enhancers	HUVEC	blood vessel
48	chr12:32764600-32767400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:32764600-32767600	Strong transcription	HSMMtube	muscle
50	chr12:32764600-32777600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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