Variant report

Variant	rs73399498
Chromosome Location	chr12:117452149-117452150
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117446881..117449437-chr12:117449689..117452192,3	K562	blood:
2	chr12:117447732..117449605-chr12:117449689..117452738,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs58661666	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60183320	0.81[AFR][1000 genomes]
rs7294581	1.00[AMR][1000 genomes]
rs73395548	1.00[AMR][1000 genomes]
rs73395573	1.00[AMR][1000 genomes]
rs73395576	1.00[AMR][1000 genomes]
rs73397415	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397440	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397442	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397454	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397475	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397493	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405269	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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117387800-117463600	Weak transcription	HMEC	breast
2	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
3	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
4	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
5	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
6	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:117440400-117452200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:117443800-117461600	Weak transcription	Colonic Mucosa	Colon
9	chr12:117444000-117462800	Weak transcription	K562	blood
10	chr12:117444400-117452200	Weak transcription	Brain Angular Gyrus	brain
11	chr12:117444600-117452200	Weak transcription	Esophagus	oesophagus
12	chr12:117444600-117452400	Weak transcription	Aorta	Aorta
13	chr12:117444600-117452400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:117444600-117452400	Weak transcription	Left Ventricle	heart
15	chr12:117444600-117452400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:117445400-117452400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:117445600-117452200	Weak transcription	HepG2	liver
18	chr12:117445800-117452200	Weak transcription	Dnd41	blood
19	chr12:117445800-117452600	Weak transcription	Gastric	stomach
20	chr12:117446000-117452400	Weak transcription	HSMM	muscle
21	chr12:117447000-117454200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:117447400-117454000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:117447400-117454200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:117447400-117454800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr12:117448400-117453000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:117448400-117462000	Weak transcription	Hela-S3	cervix
27	chr12:117448600-117452200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:117448600-117452400	Weak transcription	Spleen	Spleen
29	chr12:117448800-117452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:117449400-117452400	Weak transcription	Right Ventricle	heart
31	chr12:117449600-117452400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:117449600-117452400	Weak transcription	Pancreas	Pancrea
33	chr12:117449800-117452400	Weak transcription	Fetal Thymus	thymus
34	chr12:117449800-117452800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:117450000-117452400	Weak transcription	Placenta	Placenta
36	chr12:117450200-117452200	Weak transcription	HSMMtube	muscle
37	chr12:117450200-117452400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:117450200-117452400	Weak transcription	Ovary	ovary
39	chr12:117450200-117452400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr12:117450200-117453200	Weak transcription	NH-A	brain
41	chr12:117450200-117453800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
42	chr12:117450200-117455600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:117450200-117455800	Weak transcription	Fetal Brain Male	brain
44	chr12:117450200-117461800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:117450400-117452200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:117450400-117452200	Weak transcription	Adipose Nuclei	Adipose
47	chr12:117450400-117452200	Weak transcription	Stomach Mucosa	stomach
48	chr12:117450400-117452400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:117450400-117453800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:117450400-117454200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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