Variant report

Variant	rs73321596
Chromosome Location	chr12:62794736-62794737
allele	A/C
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	GATA3	chr12:62794653-62794850	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr12:62792882-62795084	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62788984..62792175-chr12:62792277..62796551,3	K562	blood:

Variant related genes	Relation type
USP15	TF binding region
ENSG00000135655	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59663650	1.00[EUR][1000 genomes]
rs7134026	1.00[EUR][1000 genomes]
rs73315696	1.00[EUR][1000 genomes]
rs73317650	1.00[EUR][1000 genomes]
rs73319549	1.00[EUR][1000 genomes]
rs73319579	1.00[EUR][1000 genomes]
rs73319581	1.00[EUR][1000 genomes]
rs73321560	1.00[EUR][1000 genomes]
rs73321575	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73321578	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73321591	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73323250	1.00[EUR][1000 genomes]
rs73323292	1.00[EUR][1000 genomes]
rs73323300	1.00[EUR][1000 genomes]
rs73325240	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv899153	chr12:62716330-62817736	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1803510	chr12:62729782-62802643	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv469417	chr12:62751242-62802643	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv559155	chr12:62751242-62802643	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv899154	chr12:62764909-62811328	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv899155	chr12:62764909-62817736	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv899156	chr12:62783967-62831343	Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv899157	chr12:62783967-62843620	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62762400-62796600	Weak transcription	Fetal Brain Male	brain
2	chr12:62763000-62805400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr12:62765800-62795000	Weak transcription	Small Intestine	intestine
4	chr12:62767400-62807600	Weak transcription	HSMMtube	muscle
5	chr12:62769200-62805000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr12:62769400-62797400	Weak transcription	Right Ventricle	heart
7	chr12:62769400-62809600	Weak transcription	Stomach Mucosa	stomach
8	chr12:62772600-62800800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:62773200-62799400	Weak transcription	Brain Substantia Nigra	brain
10	chr12:62773600-62802400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:62774200-62800000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr12:62774200-62802200	Strong transcription	Dnd41	blood
13	chr12:62774400-62799400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:62774400-62802200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:62774600-62802000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:62774800-62801600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:62774800-62802200	Strong transcription	Fetal Thymus	thymus
18	chr12:62774800-62803200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:62775200-62802000	Strong transcription	Primary B cells from cord blood	blood
20	chr12:62775200-62802600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:62775600-62807800	Weak transcription	Aorta	Aorta
22	chr12:62776200-62795200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:62777000-62799400	Strong transcription	Liver	Liver
24	chr12:62777000-62801200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:62777200-62799600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:62778600-62800400	Weak transcription	Psoas Muscle	Psoas
27	chr12:62781200-62801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:62782200-62799200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:62782200-62799400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr12:62782200-62801800	Strong transcription	GM12878-XiMat	blood
31	chr12:62782600-62795200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:62782600-62802400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:62782800-62798400	Strong transcription	HSMM	muscle
34	chr12:62782800-62799200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:62782800-62801200	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:62782800-62802000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:62783200-62798800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:62783400-62803400	Weak transcription	NHEK	skin
39	chr12:62783600-62797000	Strong transcription	HMEC	breast
40	chr12:62783600-62797200	Weak transcription	Brain Angular Gyrus	brain
41	chr12:62783600-62799400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:62783600-62799800	Strong transcription	Placenta	Placenta
43	chr12:62784200-62802400	Weak transcription	Pancreas	Pancrea
44	chr12:62784600-62799600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr12:62785800-62796000	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:62786400-62799400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:62786800-62799400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr12:62787800-62803600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:62788000-62795200	Weak transcription	Fetal Brain Female	brain
50	chr12:62788000-62795400	Weak transcription	NH-A	brain

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