Variant report

Variant	rs7313209
Chromosome Location	chr12:40412983-40412984
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1005956	0.91[JPT][hapmap]
rs10506140	0.92[JPT][hapmap]
rs10747971	0.84[JPT][hapmap]
rs10784338	0.92[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10784353	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs10784356	0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs10784359	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10784369	0.92[JPT][hapmap]
rs10877891	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10877990	0.92[CEU][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10878031	0.82[ASN][1000 genomes]
rs10878049	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10878089	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[ASN][1000 genomes]
rs11174609	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs11174670	0.80[ASN][1000 genomes]
rs11174702	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11174809	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11174812	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174813	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11175024	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[ASN][1000 genomes]
rs12813098	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12823555	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1482281	0.85[JPT][hapmap]
rs1586038	0.92[JPT][hapmap]
rs1600866	0.92[JPT][hapmap]
rs1813122	0.85[JPT][hapmap]
rs2128275	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128277	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2404352	0.92[JPT][hapmap]
rs2896825	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2896905	0.83[CHB][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes]
rs3925535	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[ASN][1000 genomes]
rs4625545	0.94[CHB][hapmap];0.85[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767960	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4768200	0.90[JPT][hapmap]
rs4768204	0.91[JPT][hapmap]
rs530602	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs550669	0.85[JPT][hapmap]
rs555740	0.84[JPT][hapmap]
rs6581504	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6650226	0.85[JPT][hapmap]
rs7139216	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs716268	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7313231	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953129	0.92[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7954875	0.80[ASN][1000 genomes]
rs7959498	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960662	0.92[JPT][hapmap]
rs7964150	0.84[JPT][hapmap]
rs7970812	0.94[CHB][hapmap];0.85[JPT][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9669240	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv899027	chr12:40388510-40428561	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40394400-40448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:40402200-40425600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:40405400-40445200	Weak transcription	K562	blood
4	chr12:40405600-40417000	Weak transcription	Lung	lung
5	chr12:40405800-40414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:40405800-40421000	Weak transcription	Left Ventricle	heart
7	chr12:40405800-40425800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:40405800-40426000	Weak transcription	Pancreas	Pancrea
9	chr12:40406000-40423200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:40406600-40423200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:40406600-40425800	Weak transcription	Liver	Liver
12	chr12:40407800-40426000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:40409600-40413000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:40409600-40414000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:40409600-40426000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:40409800-40413000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:40410000-40417200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:40410000-40422200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:40410400-40413000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:40411000-40417000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:40411000-40418800	Weak transcription	Aorta	Aorta
22	chr12:40411400-40416800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:40411400-40428200	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:40411400-40428600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:40411600-40413000	Weak transcription	Fetal Lung	lung
26	chr12:40411600-40416800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:40411600-40418800	Weak transcription	Right Atrium	heart
28	chr12:40411600-40422000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:40411600-40424000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:40411600-40425600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:40411600-40426200	Weak transcription	Esophagus	oesophagus
32	chr12:40411800-40425200	Weak transcription	Fetal Intestine Small	intestine
33	chr12:40411800-40425600	Weak transcription	Fetal Intestine Large	intestine
34	chr12:40411800-40425600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:40411800-40426400	Weak transcription	Right Ventricle	heart
36	chr12:40412400-40417200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr12:40412400-40417400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:40412600-40413400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:40412600-40413600	Enhancers	Brain Germinal Matrix	brain
40	chr12:40412600-40417000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:40412800-40413800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr12:40412800-40414400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr12:40412800-40415800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr12:40412800-40417200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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