Variant report

Variant	rs7962913
Chromosome Location	chr12:124212281-124212282
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124206928..124208722-chr12:124211504..124214159,2	K562	blood:
2	chr12:124209785..124212605-chr12:124214306..124217027,2	MCF-7	breast:
3	chr12:124205277..124210015-chr12:124210878..124214267,4	MCF-7	breast:
4	chr12:124211111..124214058-chr12:124220084..124222610,2	MCF-7	breast:
5	chr12:124211042..124212686-chr12:124225194..124226887,2	K562	blood:
6	chr12:124210735..124212878-chr12:124215030..124217220,2	K562	blood:
7	chr12:124206027..124209271-chr12:124210268..124212589,3	K562	blood:
8	chr12:124196480..124198171-chr12:124211166..124214127,3	MCF-7	breast:
9	chr12:124195315..124197529-chr12:124211198..124214682,4	MCF-7	breast:
10	chr12:124210735..124212878-chr12:124213756..124217220,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239215	Chromatin interaction
ENSG00000185344	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11833681	1.00[EUR][1000 genomes]
rs11834289	1.00[TSI][hapmap]
rs11835416	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11836598	1.00[EUR][1000 genomes]
rs56025259	1.00[EUR][1000 genomes]
rs56096831	1.00[EUR][1000 genomes]
rs57024764	1.00[EUR][1000 genomes]
rs58292766	1.00[EUR][1000 genomes]
rs59107032	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59540041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59689888	1.00[EUR][1000 genomes]
rs60422087	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60509888	1.00[EUR][1000 genomes]
rs60571579	1.00[EUR][1000 genomes]
rs60654678	1.00[EUR][1000 genomes]
rs60890562	1.00[EUR][1000 genomes]
rs61174884	1.00[EUR][1000 genomes]
rs61231375	1.00[EUR][1000 genomes]
rs61730202	1.00[EUR][1000 genomes]
rs61735933	1.00[EUR][1000 genomes]
rs61756271	1.00[EUR][1000 genomes]
rs7135932	1.00[EUR][1000 genomes]
rs7296360	1.00[EUR][1000 genomes]
rs73420341	1.00[EUR][1000 genomes]
rs73420349	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73420352	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973463	0.81[AMR][1000 genomes];1.00[EUR][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	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv832534	chr12:124157605-124234611	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr12:124197600-124234400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:124198600-124212400	Weak transcription	NHLF	lung
3	chr12:124198800-124223600	Weak transcription	Right Atrium	heart
4	chr12:124199000-124212400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:124199200-124212400	Weak transcription	Fetal Lung	lung
6	chr12:124199200-124213200	Weak transcription	Pancreas	Pancrea
7	chr12:124199600-124221000	Weak transcription	Psoas Muscle	Psoas
8	chr12:124201800-124247800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:124202200-124242600	Strong transcription	Fetal Stomach	stomach
10	chr12:124202600-124245200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:124202600-124245200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:124203000-124230600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:124203400-124214200	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr12:124203400-124239800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:124203600-124221000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:124203600-124242400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:124203600-124242400	Strong transcription	Fetal Muscle Leg	muscle
18	chr12:124203600-124244600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:124203600-124246000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:124203800-124214600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:124203800-124216000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:124203800-124240000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:124203800-124245000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:124203800-124248000	Strong transcription	Dnd41	blood
25	chr12:124204000-124222400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:124204000-124235200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:124204000-124235800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr12:124204000-124239800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:124204200-124214600	Strong transcription	Liver	Liver
30	chr12:124204200-124230000	Strong transcription	Fetal Brain Female	brain
31	chr12:124204400-124230000	Strong transcription	Placenta	Placenta
32	chr12:124204600-124212400	Weak transcription	Right Ventricle	heart
33	chr12:124205000-124242400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:124205400-124217000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:124205400-124233200	Weak transcription	Stomach Mucosa	stomach
36	chr12:124206000-124241800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:124206200-124237200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:124206400-124212800	Strong transcription	Fetal Intestine Large	intestine
39	chr12:124206400-124237600	Strong transcription	Adipose Nuclei	Adipose
40	chr12:124206600-124214200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:124207400-124213200	Weak transcription	Gastric	stomach
42	chr12:124207400-124214000	Strong transcription	HSMMtube	muscle
43	chr12:124207600-124212400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:124207600-124212400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:124207600-124212800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:124207600-124213000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:124207800-124212400	Weak transcription	Esophagus	oesophagus
48	chr12:124207800-124212400	Weak transcription	NHEK	skin
49	chr12:124207800-124213200	Weak transcription	Aorta	Aorta
50	chr12:124207800-124216600	Weak transcription	HMEC	breast

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