Variant report

Variant	rs61931253
Chromosome Location	chr12:64614189-64614190
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: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	chr12:64233673..64240233-chr12:64613167..64618011,13	MCF-7	breast:
2	chr12:64569180..64571134-chr12:64613693..64615934,2	K562	blood:
3	chr12:64613546..64615557-chr12:65560569..65563496,2	K562	blood:
4	chr12:64234247..64239748-chr12:64612699..64616990,14	MCF-7	breast:
5	chr12:64604646..64607427-chr12:64613216..64615906,2	K562	blood:
6	chr12:64612135..64614728-chr12:64618417..64620771,2	K562	blood:
7	chr12:64614081..64615601-chr12:64799800..64801310,2	K562	blood:
8	chr12:64607493..64609309-chr12:64613110..64614641,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000174106	Chromatin interaction
ENSG00000196935	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17763601	1.00[AFR][1000 genomes]
rs56036417	1.00[ASN][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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64575000-64615200	Weak transcription	Psoas Muscle	Psoas
2	chr12:64575600-64615000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:64575800-64615200	Weak transcription	Fetal Stomach	stomach
4	chr12:64576000-64615000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:64581400-64614600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:64581800-64615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:64582600-64614600	Weak transcription	Hela-S3	cervix
8	chr12:64582600-64614600	Weak transcription	NHDF-Ad	bronchial
9	chr12:64583200-64615400	Weak transcription	Placenta	Placenta
10	chr12:64584800-64615200	Weak transcription	Thymus	Thymus
11	chr12:64586200-64615200	Weak transcription	Right Ventricle	heart
12	chr12:64588400-64614600	Weak transcription	HMEC	breast
13	chr12:64588400-64614800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:64588400-64615000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:64588400-64615000	Weak transcription	HSMM	muscle
16	chr12:64588400-64615200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:64588400-64615400	Weak transcription	Spleen	Spleen
18	chr12:64589000-64614800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:64589000-64614800	Weak transcription	Fetal Thymus	thymus
20	chr12:64589000-64615200	Weak transcription	Fetal Intestine Large	intestine
21	chr12:64589000-64615600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:64589400-64614600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:64594600-64615000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:64597400-64615200	Weak transcription	HSMMtube	muscle
25	chr12:64597400-64615400	Weak transcription	Left Ventricle	heart
26	chr12:64598000-64615400	Weak transcription	Aorta	Aorta
27	chr12:64598600-64615000	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:64600200-64615200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:64601600-64615400	Weak transcription	Lung	lung
30	chr12:64602000-64614600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:64602400-64614800	Weak transcription	Osteobl	bone
32	chr12:64603400-64614600	Weak transcription	NHLF	lung
33	chr12:64604400-64615000	Weak transcription	Adipose Nuclei	Adipose
34	chr12:64604400-64615200	Weak transcription	Fetal Lung	lung
35	chr12:64604800-64615000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:64605800-64614600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:64606400-64614600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:64606400-64615000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:64606400-64615000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:64606600-64615000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:64607000-64615200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:64607800-64614800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:64608000-64614600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:64608000-64615200	Weak transcription	Ovary	ovary
45	chr12:64608200-64614800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:64608600-64614600	Weak transcription	Primary T cells from cord blood	blood
47	chr12:64609400-64614800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:64609400-64615000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:64609600-64614800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:64609600-64615000	Weak transcription	Rectal Mucosa Donor 29	rectum

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