Variant report

Variant	rs7300401
Chromosome Location	chr12:117451180-117451181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117439692..117442558-chr12:117449975..117451489,2	K562	blood:
2	chr12:117446881..117449437-chr12:117449689..117452192,3	K562	blood:
3	chr12:117447732..117449605-chr12:117449689..117452738,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11068227	1.00[AMR][1000 genomes]
rs11068229	1.00[AMR][1000 genomes]
rs11068244	0.88[AFR][1000 genomes]
rs11068257	1.00[AMR][1000 genomes]
rs11068261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11068284	0.92[AFR][1000 genomes]
rs11068291	1.00[AMR][1000 genomes]
rs12296579	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297294	1.00[AMR][1000 genomes]
rs12299197	1.00[AMR][1000 genomes]
rs12299208	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304848	1.00[AMR][1000 genomes]
rs12306116	1.00[AMR][1000 genomes]
rs12307625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308160	1.00[AMR][1000 genomes]
rs12308162	1.00[AMR][1000 genomes]
rs12309933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313091	1.00[AMR][1000 genomes]
rs12316781	1.00[AMR][1000 genomes]
rs12319981	1.00[AMR][1000 genomes]
rs12322115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61193113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7309550	0.91[AFR][1000 genomes];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	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
6	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
7	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:117437400-117451600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:117440400-117452200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:117441200-117451200	Weak transcription	Fetal Brain Female	brain
11	chr12:117443800-117452000	Weak transcription	Fetal Heart	heart
12	chr12:117443800-117461600	Weak transcription	Colonic Mucosa	Colon
13	chr12:117444000-117462800	Weak transcription	K562	blood
14	chr12:117444400-117451800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:117444400-117452200	Weak transcription	Brain Angular Gyrus	brain
16	chr12:117444600-117451800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:117444600-117452200	Weak transcription	Esophagus	oesophagus
18	chr12:117444600-117452400	Weak transcription	Aorta	Aorta
19	chr12:117444600-117452400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:117444600-117452400	Weak transcription	Left Ventricle	heart
21	chr12:117444600-117452400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:117445400-117452400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr12:117445600-117452200	Weak transcription	HepG2	liver
24	chr12:117445800-117452200	Weak transcription	Dnd41	blood
25	chr12:117445800-117452600	Weak transcription	Gastric	stomach
26	chr12:117446000-117452400	Weak transcription	HSMM	muscle
27	chr12:117447000-117454200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:117447400-117451400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:117447400-117451800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:117447400-117454000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:117447400-117454200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:117447400-117454800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr12:117447600-117451800	Strong transcription	Fetal Lung	lung
34	chr12:117448200-117451200	Strong transcription	A549	lung
35	chr12:117448400-117451200	Strong transcription	Liver	Liver
36	chr12:117448400-117451400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:117448400-117451800	Weak transcription	Brain Substantia Nigra	brain
38	chr12:117448400-117451800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:117448400-117453000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:117448400-117462000	Weak transcription	Hela-S3	cervix
41	chr12:117448600-117451600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:117448600-117452000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:117448600-117452200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:117448600-117452400	Weak transcription	Spleen	Spleen
45	chr12:117448800-117451200	Weak transcription	Brain Germinal Matrix	brain
46	chr12:117448800-117451800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:117448800-117452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:117449000-117451800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:117449000-117451800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:117449000-117452000	Weak transcription	Brain Hippocampus Middle	brain

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