Variant report

Variant	rs73274821
Chromosome Location	chr12:29534020-29534021
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:29533614..29534145-chr2:74153684..74154489,2	Hela-S3	cervix:
2	chr12:29533778..29534324-chr19:10443946..10444748,2	NB4	blood:
3	chr12:29533583..29534101-chr13:111213850..111214726,2	Hela-S3	cervix:
4	chr12:29533418..29534087-chr16:2204826..2205825,2	Hela-S3	cervix:
5	chr12:29533777..29534329-chr4:129208370..129209099,2	Hela-S3	cervix:
6	chr12:29533228..29534194-chr16:20817190..20817993,2	Hela-S3	cervix:
7	chr12:29534019..29534774-chr12:125401581..125402432,2	Hela-S3	cervix:
8	chr11:47869535..47870067-chr12:29533757..29534605,2	HCT-116	colon:
9	chr1:117909543..117910236-chr12:29533570..29534070,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000206630	Chromatin interaction
ENSG00000005189	Chromatin interaction
ENSG00000198162	Chromatin interaction
ENSG00000196678	Chromatin interaction
ENSG00000161847	Chromatin interaction
ENSG00000164040	Chromatin interaction
ENSG00000131653	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000139832	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000030066	Chromatin interaction
ENSG00000260260	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs57871563	1.00[AMR][1000 genomes]
rs61476653	1.00[AMR][1000 genomes]
rs7296053	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7311446	1.00[AMR][1000 genomes]
rs73271565	1.00[AMR][1000 genomes]
rs73273343	1.00[AMR][1000 genomes]
rs73273346	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273351	1.00[AMR][1000 genomes]
rs73273355	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273359	1.00[AMR][1000 genomes]
rs73273363	1.00[AMR][1000 genomes]
rs73273364	1.00[AMR][1000 genomes]
rs73273368	1.00[AMR][1000 genomes]
rs73273385	1.00[AMR][1000 genomes]
rs73274900	1.00[AMR][1000 genomes]
rs73276814	1.00[AMR][1000 genomes]
rs73278713	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29531000-29535200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:29531600-29534800	Active TSS	GM12878-XiMat	blood
3	chr12:29532200-29534600	Active TSS	HSMMtube	muscle
4	chr12:29532200-29535200	Active TSS	HMEC	breast
5	chr12:29532600-29534600	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr12:29532600-29534800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:29532600-29534800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:29532600-29534800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:29532600-29534800	Active TSS	Brain Anterior Caudate	brain
10	chr12:29532600-29534800	Active TSS	Colon Smooth Muscle	Colon
11	chr12:29532600-29535000	Active TSS	K562	blood
12	chr12:29532600-29535200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:29532800-29534800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:29532800-29534800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:29532800-29534800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:29532800-29534800	Active TSS	Muscle Satellite Cultured Cells	--
17	chr12:29532800-29534800	Active TSS	Right Ventricle	heart
18	chr12:29532800-29534800	Active TSS	Hela-S3	cervix
19	chr12:29532800-29534800	Active TSS	NH-A	brain
20	chr12:29532800-29534800	Active TSS	NHDF-Ad	bronchial
21	chr12:29532800-29535000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:29532800-29535000	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:29532800-29535000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr12:29532800-29535000	Active TSS	Colonic Mucosa	Colon
25	chr12:29532800-29535000	Active TSS	Fetal Intestine Large	intestine
26	chr12:29533000-29534600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:29533000-29534600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:29533000-29534600	Active TSS	Brain Angular Gyrus	brain
29	chr12:29533000-29534600	Active TSS	HSMM	muscle
30	chr12:29533000-29534800	Active TSS	H1 Cell Line	embryonic stem cell
31	chr12:29533000-29534800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr12:29533000-29534800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:29533000-29534800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:29533000-29534800	Active TSS	Aorta	Aorta
35	chr12:29533000-29534800	Active TSS	Brain Cingulate Gyrus	brain
36	chr12:29533000-29534800	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr12:29533000-29534800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:29533000-29534800	Active TSS	Brain Substantia Nigra	brain
39	chr12:29533000-29534800	Active TSS	Fetal Intestine Small	intestine
40	chr12:29533000-29534800	Active TSS	Fetal Muscle Trunk	muscle
41	chr12:29533000-29534800	Active TSS	Fetal Stomach	stomach
42	chr12:29533000-29534800	Active TSS	Psoas Muscle	Psoas
43	chr12:29533000-29534800	Active TSS	Right Atrium	heart
44	chr12:29533000-29535000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr12:29533200-29534200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:29533200-29534400	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr12:29533200-29534400	Active TSS	Dnd41	blood
48	chr12:29533200-29534400	Active TSS	Osteobl	bone
49	chr12:29533200-29534600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:29533200-29534600	Active TSS	Left Ventricle	heart

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