Variant report

Variant	rs62182436
Chromosome Location	chr2:172785163-172785164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172785109..172786612-chr2:172928440..172931097,2	K562	blood:
2	chr2:172783996..172786927-chr2:172793285..172795381,2	K562	blood:
3	chr2:172783311..172785755-chr2:172790702..172794266,5	K562	blood:
4	chr2:172784866..172787052-chr2:172788179..172790740,2	K562	blood:
5	chr2:172783238..172785422-chr2:172820023..172822342,2	K562	blood:

Variant related genes	Relation type
ENSG00000172878	Chromatin interaction
ENSG00000128708	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11676438	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35468668	0.83[AMR][1000 genomes]
rs4280428	0.82[AMR][1000 genomes]
rs4581870	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55653103	0.85[AMR][1000 genomes]
rs62182403	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62183766	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62183769	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62183770	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62183782	0.85[AMR][1000 genomes]
rs62183784	0.85[AMR][1000 genomes]
rs62183785	0.85[AMR][1000 genomes]
rs62183800	0.83[AMR][1000 genomes]
rs62183801	0.85[AMR][1000 genomes]
rs6718013	0.85[AMR][1000 genomes]
rs6729945	0.83[AMR][1000 genomes]
rs6730085	0.83[AMR][1000 genomes]
rs6733794	0.84[AMR][1000 genomes]
rs6746701	0.83[AMR][1000 genomes]
rs7557612	0.83[AMR][1000 genomes]
rs7584187	0.85[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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62182436	AC068039.4	cis	Thyroid	GTEx
rs62182436	AC068039.4	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172779800-172787200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:172779800-172828400	Weak transcription	Aorta	Aorta
3	chr2:172780000-172789000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:172780000-172791000	Weak transcription	Esophagus	oesophagus
5	chr2:172780000-172812800	Weak transcription	Lung	lung
6	chr2:172780000-172829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:172780200-172786200	Weak transcription	Ovary	ovary
8	chr2:172780200-172786800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:172780200-172786800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:172780200-172787600	Weak transcription	Pancreas	Pancrea
11	chr2:172780200-172789800	Weak transcription	Colonic Mucosa	Colon
12	chr2:172780200-172792800	Weak transcription	Spleen	Spleen
13	chr2:172780200-172795000	Weak transcription	Psoas Muscle	Psoas
14	chr2:172780200-172795400	Weak transcription	Gastric	stomach
15	chr2:172780200-172822200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:172780400-172785400	Weak transcription	Brain Substantia Nigra	brain
18	chr2:172780400-172787000	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:172780400-172787200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:172780400-172796600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:172780400-172820600	Weak transcription	Brain Angular Gyrus	brain
22	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:172780600-172786800	Weak transcription	Thymus	Thymus
24	chr2:172780600-172787200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:172780600-172788400	Weak transcription	NH-A	brain
26	chr2:172780600-172795200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:172780600-172811200	Weak transcription	HSMMtube	muscle
28	chr2:172780600-172811200	Weak transcription	NHEK	skin
29	chr2:172780600-172820600	Weak transcription	Brain Anterior Caudate	brain
30	chr2:172780600-172822200	Weak transcription	Liver	Liver
31	chr2:172780600-172822200	Weak transcription	Fetal Kidney	kidney
32	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
34	chr2:172781000-172787600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:172781000-172789800	Weak transcription	NHLF	lung
36	chr2:172781000-172792600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:172781000-172795400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:172781000-172811000	Weak transcription	Right Ventricle	heart
39	chr2:172781000-172811200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:172781200-172786800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:172781200-172788000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:172781200-172801400	Weak transcription	NHDF-Ad	bronchial
43	chr2:172781200-172808800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:172781200-172811200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:172781400-172785200	Strong transcription	Fetal Muscle Leg	muscle
46	chr2:172781400-172786200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:172781400-172788200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:172781400-172788200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:172781400-172792400	Weak transcription	Fetal Heart	heart
50	chr2:172781400-172822000	Weak transcription	HUVEC	blood vessel

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