Variant report

Variant	rs73301164
Chromosome Location	chr12:48469908-48469909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48468414..48470929-chr12:48522430..48524635,2	K562	blood:
2	chr12:48468062..48470836-chr12:48471643..48474168,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10161320	1.00[AMR][1000 genomes]
rs11168384	1.00[AMR][1000 genomes]
rs11168385	1.00[AMR][1000 genomes]
rs11168405	1.00[AMR][1000 genomes]
rs11168457	1.00[AMR][1000 genomes]
rs11574030	1.00[AMR][1000 genomes]
rs12303042	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303151	1.00[AMR][1000 genomes]
rs12303317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303908	1.00[AMR][1000 genomes]
rs12304251	1.00[AMR][1000 genomes]
rs12306869	1.00[AMR][1000 genomes]
rs12310743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321931	1.00[AMR][1000 genomes]
rs12322803	1.00[AMR][1000 genomes]
rs56312890	1.00[AFR][1000 genomes]
rs73301128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301196	0.88[AFR][1000 genomes]
rs7358642	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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48432200-48498400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:48435200-48476200	Weak transcription	Stomach Mucosa	stomach
3	chr12:48437200-48489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:48441400-48482600	Weak transcription	Small Intestine	intestine
5	chr12:48443000-48478800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:48444200-48474600	Weak transcription	Gastric	stomach
7	chr12:48452200-48470000	Strong transcription	Placenta	Placenta
8	chr12:48453000-48498200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:48453600-48471200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:48453800-48474800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:48454000-48494000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:48454600-48478800	Weak transcription	Pancreas	Pancrea
13	chr12:48454800-48472000	Strong transcription	Dnd41	blood
14	chr12:48457400-48482000	Weak transcription	Right Ventricle	heart
15	chr12:48457600-48478600	Weak transcription	HSMMtube	muscle
16	chr12:48459200-48479000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:48463600-48476200	Weak transcription	HUVEC	blood vessel
18	chr12:48464400-48476200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:48464600-48472600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:48464600-48489400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:48464800-48476000	Weak transcription	Fetal Brain Male	brain
22	chr12:48464800-48482400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:48465000-48474000	Weak transcription	Lung	lung
24	chr12:48465000-48474600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:48465000-48477000	Weak transcription	Brain Angular Gyrus	brain
26	chr12:48465000-48478800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:48465000-48478800	Weak transcription	Aorta	Aorta
28	chr12:48465000-48487400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:48465800-48476800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:48466200-48481400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:48466400-48472600	Weak transcription	Ovary	ovary
32	chr12:48466800-48470000	Weak transcription	Left Ventricle	heart
33	chr12:48466800-48472600	Weak transcription	Fetal Intestine Small	intestine
34	chr12:48466800-48472600	Weak transcription	Fetal Stomach	stomach
35	chr12:48466800-48478800	Weak transcription	Esophagus	oesophagus
36	chr12:48468200-48472400	Weak transcription	NHLF	lung
37	chr12:48468200-48472600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:48468200-48472600	Weak transcription	Hela-S3	cervix
39	chr12:48468200-48476000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:48468200-48476000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:48468200-48476000	Weak transcription	HSMM	muscle
42	chr12:48468200-48478800	Weak transcription	HepG2	liver
43	chr12:48468400-48471000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:48468400-48471400	Weak transcription	Fetal Brain Female	brain
45	chr12:48468400-48472600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:48468400-48472600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:48468400-48474000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:48468400-48474000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:48468400-48474200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:48468400-48474200	Weak transcription	Spleen	Spleen

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