Variant report

Variant	rs10783389
Chromosome Location	chr12:51190606-51190607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10459235	0.86[ASN][1000 genomes]
rs10506294	0.86[CHB][hapmap]
rs10506295	0.86[CHB][hapmap]
rs10747587	0.86[CHB][hapmap];0.80[AMR][1000 genomes]
rs10783382	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs10783384	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10876076	0.86[CHB][hapmap]
rs10876080	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876081	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876089	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876090	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876094	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876095	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169507	0.82[CHB][hapmap]
rs11169515	0.86[CHB][hapmap]
rs11169528	0.87[ASN][1000 genomes]
rs11169532	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11169537	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11169538	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11169539	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11169544	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169552	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169554	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11615933	0.85[ASN][1000 genomes]
rs12231309	0.86[CHB][hapmap]
rs12424860	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12580479	0.80[ASN][1000 genomes]
rs12809086	0.86[CHB][hapmap]
rs1344958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17124930	0.85[CHB][hapmap]
rs35845404	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3742063	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3742064	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3809319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825402	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4026593	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4238108	0.86[CHB][hapmap]
rs4307773	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4768866	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768903	0.81[CHB][hapmap]
rs4768906	0.87[ASN][1000 genomes]
rs4768907	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4768911	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4768912	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4768913	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4768914	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4768917	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768921	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4768923	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768924	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768925	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4768940	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73094900	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73096846	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs864899	0.86[CHB][hapmap]
rs876078	0.82[CHB][hapmap]
rs952318	0.81[CHB][hapmap]

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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10783389	DIP2B	cis	Thyroid	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51159200-51192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:51159400-51192600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:51159800-51191200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:51160000-51190800	Weak transcription	Right Ventricle	heart
5	chr12:51175400-51192200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:51178400-51192400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:51178800-51192600	Weak transcription	Fetal Heart	heart
8	chr12:51180600-51192800	Weak transcription	Esophagus	oesophagus
9	chr12:51180800-51190800	Weak transcription	Colonic Mucosa	Colon
10	chr12:51180800-51191800	Weak transcription	Aorta	Aorta
11	chr12:51180800-51204400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:51181600-51192600	Weak transcription	HUVEC	blood vessel
13	chr12:51182000-51193000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:51182600-51192400	Weak transcription	HMEC	breast
15	chr12:51184000-51192400	Weak transcription	NHLF	lung
16	chr12:51186000-51192400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:51186800-51193200	Weak transcription	Stomach Mucosa	stomach
18	chr12:51188200-51192800	Weak transcription	Brain Substantia Nigra	brain
19	chr12:51188400-51191600	Strong transcription	Fetal Thymus	thymus
20	chr12:51188400-51192600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:51188400-51192600	Strong transcription	Hela-S3	cervix
22	chr12:51188400-51193000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr12:51188600-51207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:51188800-51190800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:51188800-51191200	Strong transcription	NHDF-Ad	bronchial
26	chr12:51188800-51191400	Strong transcription	Primary B cells from cord blood	blood
27	chr12:51188800-51191400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:51188800-51192400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr12:51188800-51192600	Strong transcription	Primary T cells from cord blood	blood
30	chr12:51188800-51192600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:51188800-51192600	Strong transcription	K562	blood
32	chr12:51189000-51190800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:51189000-51192400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:51189000-51192400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:51189000-51192400	Strong transcription	Dnd41	blood
36	chr12:51189000-51192600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr12:51189000-51192600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr12:51189000-51192800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:51189000-51192800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:51189000-51192800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:51189000-51193000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:51189000-51193000	Strong transcription	HepG2	liver
43	chr12:51189000-51194000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:51189000-51195600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:51189200-51192600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:51189200-51192600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:51189200-51195400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:51189400-51191400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr12:51189400-51191800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:51189400-51192400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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