Variant report

Variant	rs73264786
Chromosome Location	chr12:10372051-10372052
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	chr12:10371460-10374320	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000255958	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11838090	1.00[AMR][1000 genomes]
rs34401616	1.00[AMR][1000 genomes]
rs35775301	1.00[AMR][1000 genomes]
rs5003527	0.92[AFR][1000 genomes]
rs55963190	1.00[AMR][1000 genomes]
rs57041498	1.00[AMR][1000 genomes]
rs57989020	1.00[AMR][1000 genomes]
rs58421114	0.92[AFR][1000 genomes]
rs60220961	1.00[AMR][1000 genomes]
rs73251088	1.00[AMR][1000 genomes]
rs73252885	1.00[AMR][1000 genomes]
rs73262640	1.00[AMR][1000 genomes]
rs73262645	1.00[AMR][1000 genomes]
rs73262654	1.00[AMR][1000 genomes]
rs73262700	1.00[AMR][1000 genomes]
rs73264708	0.92[AFR][1000 genomes]
rs73264776	0.97[AFR][1000 genomes]
rs73264779	0.92[AFR][1000 genomes]
rs73266605	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10366800-10372600	Weak transcription	Gastric	stomach
2	chr12:10366800-10373000	Weak transcription	Esophagus	oesophagus
3	chr12:10366800-10386600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:10367000-10372400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:10367800-10374000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:10367800-10374400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:10367800-10374400	Weak transcription	HepG2	liver
8	chr12:10368000-10372200	Weak transcription	Pancreas	Pancrea
9	chr12:10368000-10372200	Weak transcription	Spleen	Spleen
10	chr12:10368000-10372400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:10368000-10372400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:10368000-10372400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:10368000-10372400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:10368000-10372600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:10368000-10373000	Weak transcription	HSMM	muscle
16	chr12:10368000-10374200	Weak transcription	NHDF-Ad	bronchial
17	chr12:10368000-10374400	Weak transcription	Small Intestine	intestine
18	chr12:10368000-10375400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:10368200-10372400	Weak transcription	Osteobl	bone
20	chr12:10368200-10372600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:10368200-10372600	Weak transcription	Colonic Mucosa	Colon
22	chr12:10368200-10373200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:10368400-10372200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:10368400-10372400	Weak transcription	Primary T cells from cord blood	blood
25	chr12:10368400-10372400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:10368400-10372400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:10368400-10372400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:10368400-10372400	Weak transcription	Fetal Lung	lung
29	chr12:10368400-10372600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:10368400-10372600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:10368400-10372600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:10368400-10372600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:10368400-10372600	Weak transcription	HMEC	breast
34	chr12:10368400-10373000	Weak transcription	A549	lung
35	chr12:10368400-10374200	Weak transcription	K562	blood
36	chr12:10368400-10374400	Weak transcription	NHEK	skin
37	chr12:10368400-10377000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr12:10368400-10378400	Weak transcription	Fetal Heart	heart
39	chr12:10368400-10378600	Weak transcription	Stomach Mucosa	stomach
40	chr12:10368400-10380200	Weak transcription	GM12878-XiMat	blood
41	chr12:10368400-10380400	Weak transcription	Dnd41	blood
42	chr12:10368600-10373000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:10368800-10372600	Weak transcription	Fetal Kidney	kidney
44	chr12:10368800-10375000	Strong transcription	Fetal Intestine Small	intestine
45	chr12:10369000-10372200	Weak transcription	Brain Anterior Caudate	brain
46	chr12:10369000-10372200	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:10369000-10372200	Weak transcription	Right Atrium	heart
48	chr12:10369000-10372400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:10369000-10372400	Weak transcription	Aorta	Aorta
50	chr12:10369000-10372400	Weak transcription	Brain Substantia Nigra	brain

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