Variant report

Variant	rs7962743
Chromosome Location	chr12:124205929-124205930
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr12:124205610-124206172	K562	blood:	n/a	n/a
2	NR2F2	chr12:124205684-124206215	MCF-7	breast:	n/a	n/a
3	RUNX3	chr12:124205533-124205989	GM12878	blood:	n/a	n/a
4	NR2C2	chr12:124205794-124206323	GM12878	blood:	n/a	n/a
5	CTCF	chr12:124205920-124206070	Caco-2	colon:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2B1-5	chr12:124205793-124206186	NONHSAT031604

Variant related genes	Relation type
ATP6V0A2	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11833681	1.00[EUR][1000 genomes]
rs11835416	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]
rs7962913	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	chr12:124198200-124207000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:124198200-124207200	Weak transcription	Ovary	ovary
4	chr12:124198400-124210600	Weak transcription	NH-A	brain
5	chr12:124198600-124206800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:124198600-124207200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:124198600-124212400	Weak transcription	NHLF	lung
8	chr12:124198800-124210800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:124198800-124223600	Weak transcription	Right Atrium	heart
10	chr12:124199000-124206000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:124199000-124206000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:124199000-124206200	Weak transcription	NHEK	skin
13	chr12:124199000-124207000	Weak transcription	Fetal Kidney	kidney
14	chr12:124199000-124207200	Weak transcription	Brain Substantia Nigra	brain
15	chr12:124199000-124207200	Weak transcription	Esophagus	oesophagus
16	chr12:124199000-124210000	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:124199000-124212400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:124199200-124206000	Weak transcription	HepG2	liver
19	chr12:124199200-124206200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:124199200-124206400	Weak transcription	Adipose Nuclei	Adipose
21	chr12:124199200-124207200	Weak transcription	Small Intestine	intestine
22	chr12:124199200-124210000	Weak transcription	Colonic Mucosa	Colon
23	chr12:124199200-124210400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:124199200-124210600	Weak transcription	Hela-S3	cervix
25	chr12:124199200-124212400	Weak transcription	Fetal Lung	lung
26	chr12:124199200-124213200	Weak transcription	Pancreas	Pancrea
27	chr12:124199600-124207200	Weak transcription	Gastric	stomach
28	chr12:124199600-124221000	Weak transcription	Psoas Muscle	Psoas
29	chr12:124200000-124207000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:124200000-124207800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:124200200-124207200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:124200200-124208200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:124200200-124210600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:124200200-124210800	Weak transcription	NHDF-Ad	bronchial
35	chr12:124201200-124207400	Weak transcription	GM12878-XiMat	blood
36	chr12:124201400-124207000	Weak transcription	Fetal Brain Male	brain
37	chr12:124201800-124247800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:124202200-124242600	Strong transcription	Fetal Stomach	stomach
39	chr12:124202600-124207800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr12:124202600-124245200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:124202600-124245200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:124203000-124208200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:124203000-124230600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:124203400-124207800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr12:124203400-124214200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr12:124203400-124239800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:124203600-124207600	Strong transcription	Brain Angular Gyrus	brain
48	chr12:124203600-124207800	Strong transcription	Brain Anterior Caudate	brain
49	chr12:124203600-124207800	Strong transcription	Fetal Thymus	thymus
50	chr12:124203600-124221000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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