Variant report

Variant	rs73321591
Chromosome Location	chr12:62785918-62785919
allele	A/G
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	chr12:62784665-62786392	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62783680..62786866-chr12:62789094..62791660,3	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:16)

rs_ID	r²[population]
rs59663650	1.00[EUR][1000 genomes]
rs7134026	1.00[EUR][1000 genomes]
rs73315685	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]
rs73321596	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:12 , 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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62737600-62786600	Weak transcription	NHLF	lung
2	chr12:62738200-62787400	Weak transcription	Spleen	Spleen
3	chr12:62738200-62790600	Weak transcription	Esophagus	oesophagus
4	chr12:62738800-62789600	Weak transcription	Ovary	ovary
5	chr12:62738800-62792800	Weak transcription	Lung	lung
6	chr12:62742000-62786800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:62758200-62787400	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:62762400-62796600	Weak transcription	Fetal Brain Male	brain
9	chr12:62763000-62805400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:62763800-62787600	Weak transcription	Brain Anterior Caudate	brain
11	chr12:62764200-62792000	Weak transcription	HepG2	liver
12	chr12:62764400-62786800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:62765800-62795000	Weak transcription	Small Intestine	intestine
14	chr12:62766200-62789200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:62767400-62807600	Weak transcription	HSMMtube	muscle
16	chr12:62768400-62787600	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:62769200-62805000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:62769400-62797400	Weak transcription	Right Ventricle	heart
19	chr12:62769400-62809600	Weak transcription	Stomach Mucosa	stomach
20	chr12:62769600-62786600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:62769600-62787400	Weak transcription	Fetal Kidney	kidney
22	chr12:62772600-62800800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:62773000-62792800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:62773200-62799400	Weak transcription	Brain Substantia Nigra	brain
25	chr12:62773400-62787400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:62773600-62802400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:62773800-62786400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:62774200-62786800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:62774200-62800000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr12:62774200-62802200	Strong transcription	Dnd41	blood
31	chr12:62774400-62799400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:62774400-62802200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:62774600-62802000	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:62774800-62791000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:62774800-62801600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:62774800-62802200	Strong transcription	Fetal Thymus	thymus
37	chr12:62774800-62803200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:62775200-62802000	Strong transcription	Primary B cells from cord blood	blood
39	chr12:62775200-62802600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:62775600-62807800	Weak transcription	Aorta	Aorta
41	chr12:62776200-62795200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:62776800-62787800	Strong transcription	K562	blood
43	chr12:62777000-62799400	Strong transcription	Liver	Liver
44	chr12:62777000-62801200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:62777200-62799600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:62777600-62792000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:62778600-62789400	Weak transcription	Brain Germinal Matrix	brain
48	chr12:62778600-62800400	Weak transcription	Psoas Muscle	Psoas
49	chr12:62779200-62787400	Weak transcription	Colonic Mucosa	Colon
50	chr12:62779200-62794400	Strong transcription	Primary hematopoietic stem cells	blood

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