Variant report

Variant	rs7303415
Chromosome Location	chr12:9224191-9224192
allele	C/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	chr12:9216895-9230988	HepG2	liver:	n/a	n/a
2	MBD4	chr12:9224092-9224678	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:9223536-9224496	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:9224097-9226160	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:9224150-9224392	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:9223977-9224371	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:9224063-9224485	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
A2M	TF binding region

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

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

rs_ID	r²[population]
rs16917969	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16918015	1.00[EUR][1000 genomes]
rs16918023	1.00[EUR][1000 genomes]
rs226409	1.00[EUR][1000 genomes]
rs226412	1.00[EUR][1000 genomes]
rs226413	1.00[EUR][1000 genomes]
rs3026250	0.88[AFR][1000 genomes]
rs56016864	1.00[EUR][1000 genomes]
rs7133355	0.88[AFR][1000 genomes]
rs7298071	1.00[EUR][1000 genomes]
rs74060475	1.00[EUR][1000 genomes]
rs74060548	1.00[EUR][1000 genomes]
rs74060552	1.00[EUR][1000 genomes]
rs74061408	1.00[EUR][1000 genomes]
rs74061424	1.00[AFR][1000 genomes];1.00[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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 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	chr12:9217800-9225000	Weak transcription	Small Intestine	intestine
2	chr12:9217800-9234200	Weak transcription	Primary T cells from cord blood	blood
3	chr12:9218000-9226800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:9218000-9234000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:9218200-9224200	Weak transcription	Ovary	ovary
6	chr12:9218200-9232200	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:9218200-9236200	Weak transcription	Psoas Muscle	Psoas
8	chr12:9218200-9266200	Weak transcription	Fetal Kidney	kidney
9	chr12:9218400-9224200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:9218400-9224200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:9218400-9224600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:9218400-9228600	Weak transcription	Brain Anterior Caudate	brain
13	chr12:9218400-9230800	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:9218400-9231000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:9218400-9234400	Weak transcription	Right Atrium	heart
16	chr12:9218400-9236600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:9218400-9236600	Weak transcription	Brain Substantia Nigra	brain
18	chr12:9218400-9237200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:9218600-9225000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:9218600-9229400	Weak transcription	Colonic Mucosa	Colon
21	chr12:9218600-9235600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:9218600-9235800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:9218600-9236400	Weak transcription	Brain Angular Gyrus	brain
24	chr12:9218800-9225000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:9218800-9230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:9218800-9236200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:9218800-9236200	Weak transcription	Fetal Heart	heart
28	chr12:9219000-9233200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:9219200-9224200	Weak transcription	Right Ventricle	heart
30	chr12:9219200-9225000	Weak transcription	Lung	lung
31	chr12:9219200-9226400	Weak transcription	Pancreas	Pancrea
32	chr12:9219200-9229200	Weak transcription	Gastric	stomach
33	chr12:9219200-9234600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:9219200-9266000	Weak transcription	Esophagus	oesophagus
35	chr12:9219400-9233200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr12:9219600-9224600	Weak transcription	Fetal Intestine Large	intestine
37	chr12:9219800-9225200	Strong transcription	Adipose Nuclei	Adipose
38	chr12:9219800-9233200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:9219800-9235800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:9220000-9224800	Weak transcription	Fetal Intestine Small	intestine
41	chr12:9220200-9225000	Strong transcription	HepG2	liver
42	chr12:9220600-9226200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:9220600-9232600	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:9220800-9227000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:9220800-9232400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:9221000-9228600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:9221600-9224800	Weak transcription	Placenta	Placenta
48	chr12:9222200-9230600	Genic enhancers	Liver	Liver
49	chr12:9222600-9224200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:9222600-9232600	Strong transcription	Fetal Lung	lung

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