Variant report

Variant	rs7953699
Chromosome Location	chr12:29367933-29367934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29366444..29369695-chr12:29370735..29374164,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12815733	0.85[AMR][1000 genomes]
rs12817351	0.85[AMR][1000 genomes]
rs12826306	0.85[AMR][1000 genomes]
rs1496214	1.00[AMR][1000 genomes]
rs34158620	0.85[AMR][1000 genomes]
rs34270636	0.85[AMR][1000 genomes]
rs34339523	0.85[AMR][1000 genomes]
rs34492685	0.85[AMR][1000 genomes]
rs34601700	0.85[AMR][1000 genomes]
rs34825983	0.85[AMR][1000 genomes]
rs34941964	0.85[AMR][1000 genomes]
rs34990495	0.85[AMR][1000 genomes]
rs35002558	0.85[AMR][1000 genomes]
rs35054952	0.85[AMR][1000 genomes]
rs35071007	0.85[AMR][1000 genomes]
rs35100017	0.85[AMR][1000 genomes]
rs35121122	0.85[AMR][1000 genomes]
rs35199330	0.85[AMR][1000 genomes]
rs35736217	0.85[AMR][1000 genomes]
rs35763553	0.85[AMR][1000 genomes]
rs35773649	0.85[AMR][1000 genomes]
rs35861754	0.85[AMR][1000 genomes]
rs71453726	0.85[AMR][1000 genomes]
rs71453728	0.85[AMR][1000 genomes]
rs71453729	0.85[AMR][1000 genomes]
rs7315584	0.85[AMR][1000 genomes]
rs7969058	0.85[AMR][1000 genomes]
rs7971655	0.85[AMR][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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29360400-29381000	Weak transcription	HUVEC	blood vessel
2	chr12:29362000-29368800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:29362600-29369800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr12:29363600-29369000	Weak transcription	Dnd41	blood
5	chr12:29363800-29377800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:29365600-29368800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:29365600-29369400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:29365600-29370000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:29365600-29370200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:29365600-29378600	Weak transcription	Small Intestine	intestine
11	chr12:29366000-29369800	Weak transcription	Adipose Nuclei	Adipose
12	chr12:29366000-29373800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:29366200-29369400	Weak transcription	NHDF-Ad	bronchial
14	chr12:29366200-29393200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:29366400-29368800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:29366400-29369000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:29366400-29373800	Weak transcription	Fetal Intestine Large	intestine
18	chr12:29366600-29373800	Weak transcription	Fetal Intestine Small	intestine
19	chr12:29366800-29373600	Weak transcription	Placenta	Placenta
20	chr12:29367000-29368000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr12:29367800-29368800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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