Variant report

Variant	rs17120377
Chromosome Location	chr12:63225469-63225470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63221772..63223431-chr12:63224713..63226553,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10506448	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10506449	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10506450	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877914	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877917	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10877918	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877919	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174650	1.00[GIH][hapmap]
rs11174656	0.83[ASN][1000 genomes]
rs11174657	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174658	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174659	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174660	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174661	0.88[ASN][1000 genomes]
rs11174662	0.88[ASN][1000 genomes]
rs11174663	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174664	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174665	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174666	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174667	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174668	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174669	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174677	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174678	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174682	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174685	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11174689	0.82[CEU][hapmap];1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs11495591	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11615499	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.83[ASN][1000 genomes]
rs12367672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12369052	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371724	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17735307	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1908185	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2663963	1.00[JPT][hapmap]
rs337516	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs337517	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3912983	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4378444	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73130069	0.83[ASN][1000 genomes]
rs73130081	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73130084	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73130086	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73130088	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73130089	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135674	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73135684	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3401870	chr12:63215053-63228223	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17120377	FAM119B	cis	parietal	SCAN
rs17120377	DCTN2	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63195800-63228600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:63196000-63225800	Weak transcription	Gastric	stomach
3	chr12:63207200-63228600	Weak transcription	A549	lung
4	chr12:63207200-63231200	Weak transcription	Pancreas	Pancrea
5	chr12:63211800-63228000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:63211800-63228200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:63211800-63228200	Weak transcription	Aorta	Aorta
8	chr12:63212000-63225600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:63212000-63228200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:63212200-63227800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:63212400-63228200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:63212400-63228200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:63212400-63228400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:63212400-63228600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:63212400-63228800	Weak transcription	Brain Anterior Caudate	brain
16	chr12:63212400-63229000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:63212600-63227200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:63212600-63234600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:63214000-63228400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:63214800-63227800	Weak transcription	Brain Substantia Nigra	brain
21	chr12:63218400-63234800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:63219400-63226200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:63221000-63226400	Strong transcription	HepG2	liver
24	chr12:63221200-63226000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:63221200-63228200	Weak transcription	Ovary	ovary
26	chr12:63221400-63228800	Weak transcription	Fetal Kidney	kidney
27	chr12:63221600-63225800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:63221600-63234200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:63222200-63226000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:63222200-63228200	Weak transcription	Left Ventricle	heart
31	chr12:63222200-63235200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr12:63222800-63226000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:63223000-63226200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:63223200-63226000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:63223600-63227400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:63223800-63229200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:63224400-63225800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:63224400-63225800	Strong transcription	Fetal Intestine Small	intestine
39	chr12:63224400-63226000	Strong transcription	Brain Angular Gyrus	brain
40	chr12:63224400-63228000	Weak transcription	Adipose Nuclei	Adipose
41	chr12:63224600-63226000	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr12:63225200-63225800	Weak transcription	Fetal Intestine Large	intestine
43	chr12:63225200-63226000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:63225400-63237600	Weak transcription	Liver	Liver

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