Variant report

Variant	rs7137739
Chromosome Location	chr12:118706289-118706290
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	chr12:118690956..118692482-chr12:118706042..118708057,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11068875	0.83[AMR][1000 genomes]
rs11068877	0.84[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs11068882	0.83[AMR][1000 genomes]
rs11068890	0.85[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs11068895	0.85[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs11068929	0.83[AMR][1000 genomes]
rs11068950	0.83[AMR][1000 genomes]
rs11834503	0.83[AMR][1000 genomes]
rs11834916	0.83[AMR][1000 genomes]
rs11835933	0.83[AMR][1000 genomes]
rs12296292	0.83[AMR][1000 genomes]
rs12300544	1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs12305529	0.83[AMR][1000 genomes]
rs12305849	0.83[AMR][1000 genomes]
rs12305893	0.83[AMR][1000 genomes]
rs12314138	0.83[AMR][1000 genomes]
rs12315982	1.00[TSI][hapmap]
rs12319261	0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs12319300	0.83[AMR][1000 genomes]
rs12320014	0.80[MKK][hapmap]
rs12321640	0.83[AMR][1000 genomes]
rs35214062	0.83[AMR][1000 genomes]
rs6490174	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7132122	0.83[AMR][1000 genomes]
rs7136936	0.83[AMR][1000 genomes]
rs7296214	1.00[TSI][hapmap]
rs7308927	0.83[AMR][1000 genomes]
rs7313336	0.83[AMR][1000 genomes]
rs7313514	0.81[MKK][hapmap];1.00[TSI][hapmap]
rs7956203	0.83[AMR][1000 genomes]
rs7974361	0.81[MKK][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
2	chr12:118652200-118727800	Weak transcription	NHLF	lung
3	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:118669000-118725200	Weak transcription	K562	blood
5	chr12:118673400-118710400	Weak transcription	Placenta	Placenta
6	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:118673600-118712000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:118673800-118709200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:118674000-118726200	Weak transcription	Lung	lung
11	chr12:118676000-118745200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:118676200-118707400	Weak transcription	HSMM	muscle
13	chr12:118676400-118718400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:118676800-118720400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:118677000-118708000	Weak transcription	NHEK	skin
16	chr12:118677000-118708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:118677000-118739800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:118683400-118739800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:118692400-118728000	Weak transcription	Adipose Nuclei	Adipose
20	chr12:118693400-118725600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:118693400-118745000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:118693600-118712000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:118693600-118728200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:118694600-118707600	Weak transcription	Brain Anterior Caudate	brain
25	chr12:118694600-118739800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:118694800-118719800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:118697600-118723600	Weak transcription	Pancreas	Pancrea
28	chr12:118699200-118737600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:118699600-118706800	Weak transcription	Osteobl	bone
30	chr12:118699600-118712000	Weak transcription	GM12878-XiMat	blood
31	chr12:118699800-118727800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:118699800-118733800	Weak transcription	Fetal Stomach	stomach
33	chr12:118699800-118736000	Weak transcription	Fetal Intestine Small	intestine
34	chr12:118700200-118737200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:118700400-118708000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:118700400-118738000	Weak transcription	Fetal Intestine Large	intestine
37	chr12:118700600-118719000	Weak transcription	HSMMtube	muscle
38	chr12:118700800-118709600	Weak transcription	Hela-S3	cervix
39	chr12:118702400-118710600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:118702600-118709600	Weak transcription	A549	lung
41	chr12:118702600-118744600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:118702800-118709200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:118702800-118709200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:118702800-118726200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:118703000-118712000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:118703600-118711800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:118703800-118711800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:118703800-118712200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:118703800-118712400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr12:118703800-118718400	Weak transcription	Monocytes-CD14+_RO01746	blood

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