Variant report

Variant	rs7306412
Chromosome Location	chr12:29457003-29457004
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10082724	0.85[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs10161279	0.81[EUR][1000 genomes]
rs10843388	0.85[CEU][hapmap];0.81[JPT][hapmap];0.95[EUR][1000 genomes]
rs10843393	0.85[CEU][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes]
rs11050146	0.81[JPT][hapmap]
rs11050210	0.80[EUR][1000 genomes]
rs12297776	0.85[CEU][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap]
rs12304413	0.81[EUR][1000 genomes]
rs12311187	0.85[CEU][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs16934083	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16934124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934148	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16934161	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4931176	1.00[CEU][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6487798	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7309132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7312068	1.00[CEU][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7965758	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv975465	chr12:29456482-29462628	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29417200-29465400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:29422000-29465000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:29426800-29472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
5	chr12:29429000-29460200	Weak transcription	Primary T cells from cord blood	blood
6	chr12:29429200-29463600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:29429400-29460400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:29435400-29467200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:29439600-29464000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:29439600-29469400	Weak transcription	NH-A	brain
11	chr12:29443400-29460200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:29446200-29465000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:29449600-29470800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:29452000-29457800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:29452800-29465200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:29452800-29494200	Weak transcription	Lung	lung
17	chr12:29453000-29465200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:29453000-29472800	Weak transcription	Fetal Intestine Large	intestine
19	chr12:29453200-29461800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:29453800-29480000	Weak transcription	Gastric	stomach
21	chr12:29454400-29463800	Weak transcription	HUVEC	blood vessel
22	chr12:29454600-29475800	Weak transcription	Spleen	Spleen
23	chr12:29455200-29489400	Weak transcription	Primary B cells from cord blood	blood
24	chr12:29455400-29458000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:29456000-29469600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:29456600-29465800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:29456600-29471000	Weak transcription	Fetal Intestine Small	intestine
28	chr12:29457000-29465200	Weak transcription	Adipose Nuclei	Adipose
29	chr12:29457000-29467400	Weak transcription	Left Ventricle	heart

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