Variant report

Variant	rs73292567
Chromosome Location	chr12:46328988-46328989
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	POLR2A	chr12:46328935-46329099	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:46328699-46329006	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
SCAF11	TF binding region

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs35114	1.00[AMR][1000 genomes]
rs56884429	0.83[AFR][1000 genomes]
rs73290779	0.83[AFR][1000 genomes]
rs73290786	0.83[AFR][1000 genomes]
rs73290789	0.83[AFR][1000 genomes]
rs73290790	0.83[AFR][1000 genomes]
rs73292505	0.83[AFR][1000 genomes]
rs73292506	0.83[AFR][1000 genomes]
rs73292513	0.83[AFR][1000 genomes]
rs73292514	0.83[AFR][1000 genomes]
rs73292528	0.83[AFR][1000 genomes]
rs73292535	0.83[AFR][1000 genomes]
rs73292551	0.83[AFR][1000 genomes]
rs73292563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292583	1.00[AFR][1000 genomes];1.00[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	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46299000-46381000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:46311000-46329000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:46311000-46329000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:46311400-46329000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:46311400-46329000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:46312000-46329800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:46312000-46330000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:46312000-46330000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr12:46312200-46348600	Strong transcription	Dnd41	blood
10	chr12:46312400-46329200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr12:46314600-46345600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:46316600-46343400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:46317000-46341400	Weak transcription	Gastric	stomach
14	chr12:46318800-46338600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:46318800-46339200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:46319200-46341400	Weak transcription	Lung	lung
17	chr12:46319200-46362800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:46319800-46329200	Strong transcription	HepG2	liver
19	chr12:46321000-46333200	Weak transcription	Fetal Intestine Small	intestine
20	chr12:46322400-46329000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:46322400-46329400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:46322400-46337400	Weak transcription	Fetal Brain Female	brain
23	chr12:46322600-46331800	Weak transcription	Ovary	ovary
24	chr12:46322600-46335200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:46322600-46338600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:46322600-46340000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:46322600-46341400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:46322600-46341400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:46322600-46341400	Weak transcription	Pancreas	Pancrea
30	chr12:46322600-46360200	Weak transcription	Fetal Brain Male	brain
31	chr12:46322800-46338600	Weak transcription	Esophagus	oesophagus
32	chr12:46323200-46341400	Weak transcription	Colonic Mucosa	Colon
33	chr12:46323200-46341400	Weak transcription	Fetal Stomach	stomach
34	chr12:46323200-46341400	Weak transcription	Spleen	Spleen
35	chr12:46323600-46332000	Strong transcription	Primary B cells from cord blood	blood
36	chr12:46324200-46334600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:46324400-46351600	Weak transcription	Psoas Muscle	Psoas
38	chr12:46324600-46333600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:46324800-46331600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:46325000-46331600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:46325000-46331800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:46325000-46334400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:46325000-46335400	Weak transcription	Thymus	Thymus
44	chr12:46325000-46341400	Weak transcription	Left Ventricle	heart
45	chr12:46325200-46343400	Weak transcription	Right Ventricle	heart
46	chr12:46325600-46334600	Weak transcription	NHEK	skin
47	chr12:46325600-46334800	Weak transcription	Fetal Kidney	kidney
48	chr12:46325800-46331800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:46325800-46333600	Weak transcription	Fetal Lung	lung
50	chr12:46325800-46333800	Weak transcription	HMEC	breast

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