Variant report

Variant	rs61539002
Chromosome Location	chr12:49518348-49518349
allele	A/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49477289..49493962-chr12:49512467..49528127,64	K562	blood:
2	chr12:49516794..49519306-chr12:49658844..49660440,2	K562	blood:
3	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:
4	chr12:49502010..49504966-chr12:49515445..49519426,3	MCF-7	breast:
5	chr12:49514836..49519049-chr12:49519208..49521265,5	MCF-7	breast:
6	chr12:49440399..49469923-chr12:49518291..49528303,83	K562	blood:
7	chr12:49446392..49469923-chr12:49518127..49527853,66	K562	blood:
8	chr12:49457477..49459224-chr12:49518339..49520842,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139549	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000167550	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11168855	0.83[AMR][1000 genomes]
rs11168858	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11168871	0.83[AMR][1000 genomes]
rs12298540	0.83[AMR][1000 genomes]
rs12301841	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12308383	0.83[AMR][1000 genomes]
rs12309311	0.83[AMR][1000 genomes]
rs12311604	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12314634	0.83[AMR][1000 genomes]
rs12314888	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12318907	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12320695	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59178045	0.83[AMR][1000 genomes]
rs61557154	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73304131	0.87[AFR][1000 genomes];0.83[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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49505400-49521000	Weak transcription	Spleen	Spleen
2	chr12:49511400-49520600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:49511600-49520800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:49511600-49521000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:49513600-49520800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:49515000-49520600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:49515000-49520600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:49515000-49520800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:49515000-49520800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:49515000-49520800	Weak transcription	Adipose Nuclei	Adipose
11	chr12:49515000-49520800	Weak transcription	Colonic Mucosa	Colon
12	chr12:49515000-49520800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:49515000-49520800	Weak transcription	Fetal Kidney	kidney
14	chr12:49515000-49520800	Weak transcription	Left Ventricle	heart
15	chr12:49515000-49520800	Weak transcription	Pancreas	Pancrea
16	chr12:49515000-49520800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:49515000-49520800	Weak transcription	HSMM	muscle
18	chr12:49515000-49520800	Weak transcription	HUVEC	blood vessel
19	chr12:49515000-49520800	Weak transcription	K562	blood
20	chr12:49515000-49520800	Weak transcription	NHLF	lung
21	chr12:49515000-49521000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:49515000-49521000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:49515000-49521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:49515000-49521200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:49515000-49521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:49515000-49521200	Weak transcription	Liver	Liver
27	chr12:49515000-49521600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:49515000-49522800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:49515000-49522800	Weak transcription	Stomach Mucosa	stomach
30	chr12:49515200-49520800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:49515200-49520800	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:49515200-49521000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:49515200-49521000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:49515200-49521000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:49515200-49521000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:49515200-49521000	Weak transcription	HepG2	liver
37	chr12:49515200-49522800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:49515400-49520600	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:49515400-49520800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:49515400-49520800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:49515400-49520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:49515400-49520800	Weak transcription	Brain Anterior Caudate	brain
43	chr12:49515400-49520800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:49515400-49520800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:49515400-49520800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:49515400-49520800	Weak transcription	A549	lung
47	chr12:49515400-49520800	Weak transcription	NHDF-Ad	bronchial
48	chr12:49515400-49520800	Weak transcription	Osteobl	bone
49	chr12:49515400-49521200	Weak transcription	Hela-S3	cervix
50	chr12:49516600-49520600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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