Variant report

Variant	rs7312068
Chromosome Location	chr12:29435225-29435226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERGIC2-2	chr12:29435097-29435293	ENSG00000245593
2	lnc-ERGIC2-2	chr12:29435097-29435293	ENSG00000257176.1
3	lnc-ERGIC2-2	chr12:29435097-29435293	NONHSAT027487

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10082724	0.85[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs10161279	0.85[ASN][1000 genomes]
rs10843388	0.85[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs10843393	0.85[CEU][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap]
rs11050164	0.94[YRI][hapmap]
rs11050165	0.94[YRI][hapmap]
rs11050211	0.93[YRI][hapmap]
rs12297776	0.85[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.85[ASN][1000 genomes]
rs12304413	0.85[ASN][1000 genomes]
rs12311187	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12316548	0.94[YRI][hapmap]
rs16934083	0.84[EUR][1000 genomes]
rs16934110	0.86[ASW][hapmap];0.91[LWK][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs16934124	0.89[EUR][1000 genomes]
rs16934148	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs16934161	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs3782514	0.83[ASN][1000 genomes]
rs4931176	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6487798	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7306412	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]
rs7309132	1.00[CEU][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][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	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

No data

Chromatin state (count:38 , 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	chr12:29422000-29455600	Weak transcription	Left Ventricle	heart
3	chr12:29422000-29465000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:29425200-29435600	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:29426600-29440600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:29426800-29436200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:29426800-29440600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:29426800-29472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:29427000-29452200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
11	chr12:29427800-29438400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:29429000-29460200	Weak transcription	Primary T cells from cord blood	blood
13	chr12:29429200-29463600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:29429400-29460400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr12:29432200-29442800	Weak transcription	Psoas Muscle	Psoas
16	chr12:29432400-29438400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:29432600-29436600	Weak transcription	NH-A	brain
18	chr12:29432800-29445800	Weak transcription	Primary B cells from cord blood	blood
19	chr12:29433400-29435400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:29433400-29436000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:29433400-29436400	Enhancers	Primary hematopoietic stem cells	blood
22	chr12:29433600-29435400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr12:29434200-29449600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:29434400-29435400	Enhancers	Fetal Kidney	kidney
25	chr12:29434400-29435600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:29434400-29435600	Enhancers	Fetal Stomach	stomach
27	chr12:29434400-29435800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:29434400-29435800	Enhancers	Adipose Nuclei	Adipose
29	chr12:29434400-29439000	Enhancers	Osteobl	bone
30	chr12:29434600-29436200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:29434800-29435400	Enhancers	HSMMtube	muscle
32	chr12:29434800-29436000	Enhancers	Dnd41	blood
33	chr12:29434800-29436000	Enhancers	HSMM	muscle
34	chr12:29435000-29435400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr12:29435000-29436000	Enhancers	HUVEC	blood vessel
36	chr12:29435200-29435400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:29435200-29435400	Enhancers	Colon Smooth Muscle	Colon
38	chr12:29435200-29436000	Enhancers	NHDF-Ad	bronchial

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