Variant report

Variant	rs10843348
Chromosome Location	chr12:29382030-29382031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29376867..29378651-chr12:29381952..29383534,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10082744	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10734771	0.96[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10743650	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771497	0.85[EUR][1000 genomes]
rs10771498	0.86[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10771501	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10771502	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12322549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862996	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2113534	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35549733	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7298376	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7300406	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7303562	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[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	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29366200-29393200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:29374800-29382800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:29377000-29385200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr12:29378400-29383200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:29378400-29383200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:29378400-29383400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:29378800-29383200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:29379000-29388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:29379000-29393400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:29379600-29394600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:29380400-29382400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:29380400-29392000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:29380600-29382800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:29380800-29383200	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:29381000-29382400	Enhancers	HUVEC	blood vessel
16	chr12:29381000-29393200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:29381200-29382200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:29381200-29382400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:29381400-29382200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:29381400-29382200	Enhancers	Placenta	Placenta
21	chr12:29381600-29382200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:29381600-29382200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:29381600-29382200	Enhancers	Osteobl	bone
24	chr12:29381800-29383200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:29381800-29383200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:29381800-29384000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:29381800-29394600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:29381800-29394800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:29382000-29382200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr12:29382000-29382200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr12:29382000-29382400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:29382000-29390000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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