Variant report

Variant	rs36066142
Chromosome Location	chr12:121182774-121182775
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	chr12:121180108..121181747-chr12:121181944..121183466,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12832102	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1799958	0.92[ASN][1000 genomes]
rs2014355	0.92[ASN][1000 genomes]
rs34673751	0.87[ASN][1000 genomes]
rs34708625	0.92[ASN][1000 genomes]
rs3861791	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9204	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
2	chr12:121177200-121183200	Weak transcription	Primary T cells from cord blood	blood
3	chr12:121177600-121184600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:121177600-121186000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:121177600-121186200	Weak transcription	Left Ventricle	heart
6	chr12:121177800-121183000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:121177800-121186000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:121177800-121186000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:121177800-121186200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:121177800-121197800	Weak transcription	Gastric	stomach
11	chr12:121178000-121183600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:121178000-121186000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:121178000-121194400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:121178200-121186200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:121178400-121185800	Weak transcription	Colonic Mucosa	Colon
16	chr12:121178600-121182800	Weak transcription	Esophagus	oesophagus
17	chr12:121178800-121186000	Weak transcription	Right Ventricle	heart
18	chr12:121179000-121183000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:121179600-121182800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:121179800-121185600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:121179800-121185600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:121179800-121197400	Weak transcription	Spleen	Spleen
23	chr12:121180000-121183000	Weak transcription	Fetal Intestine Small	intestine
24	chr12:121180200-121183600	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:121180200-121185400	Weak transcription	Fetal Intestine Large	intestine
26	chr12:121180200-121197400	Weak transcription	Pancreas	Pancrea
27	chr12:121180600-121185200	Weak transcription	HepG2	liver

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