Variant report

Variant	rs10783844
Chromosome Location	chr12:58098425-58098426
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57995985..57998083-chr12:58098335..58100355,2	K562	blood:
2	chr12:58096280..58099117-chr12:58103405..58105701,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10082911	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10083154	0.87[CEU][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs10783836	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10783842	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783843	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1082502	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1082503	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876993	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876994	0.86[CHB][hapmap]
rs10877001	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877006	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877007	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877008	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1092472	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11172277	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11172304	0.90[AFR][1000 genomes]
rs11172306	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12302351	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12302451	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12314562	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12316021	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12809742	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12813384	0.87[ASN][1000 genomes]
rs1585781	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1628552	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1629032	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1633360	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1633361	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1678504	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678505	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1678511	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678512	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1678513	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678515	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1678516	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1678519	0.83[EUR][1000 genomes]
rs1678520	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1678522	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1678527	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1678528	0.88[ASN][1000 genomes]
rs1678529	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1678530	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678531	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678532	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678534	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1678539	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1678540	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1689584	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689585	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1689586	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1689592	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1689594	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1689595	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1689596	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1689597	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1689600	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1689601	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1689604	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1696466	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1871417	0.87[CEU][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs2277322	0.82[JPT][hapmap]
rs238516	0.81[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2619441	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619466	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2640629	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2640630	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2640631	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2928053	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2928054	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2928055	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2928061	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2928062	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928064	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825078	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760164	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4760165	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760168	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs701006	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs703832	0.89[EUR][1000 genomes]
rs7136269	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7314152	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs774887	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs774888	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs774890	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs774891	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7976852	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7979246	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs799265	0.81[YRI][hapmap]
rs799575	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs810204	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv508676	chr12:58045136-58098538	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
4	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
5	esv1820402	chr12:58092554-58110211	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10783844	FAM119B	Cis_1M	lymphoblastoid	RTeQTL
rs10783844	DKFZP586D0919	cis	multi-tissue	Pritchard
rs10783844	SLC26A10	cis	Heart Left Ventricle	GTEx
rs10783844	TSFM	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58088800-58099400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:58088800-58099400	Weak transcription	Small Intestine	intestine
3	chr12:58089000-58109400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:58089000-58110000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:58089200-58103400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:58089200-58115400	Weak transcription	Fetal Heart	heart
7	chr12:58089600-58098600	Weak transcription	Hela-S3	cervix
8	chr12:58089800-58101200	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:58090200-58098800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:58091000-58109800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:58091000-58110200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:58091200-58101200	Weak transcription	Colonic Mucosa	Colon
13	chr12:58091200-58109600	Weak transcription	Right Ventricle	heart
14	chr12:58091200-58116600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:58091400-58108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:58091400-58110200	Weak transcription	HUVEC	blood vessel
17	chr12:58091400-58111600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:58092200-58106600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:58092600-58099400	Weak transcription	Lung	lung
20	chr12:58092600-58103800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:58092600-58106400	Weak transcription	Aorta	Aorta
22	chr12:58092600-58106600	Weak transcription	Esophagus	oesophagus
23	chr12:58092600-58107600	Weak transcription	Pancreas	Pancrea
24	chr12:58092800-58109000	Weak transcription	HSMMtube	muscle
25	chr12:58092800-58109200	Weak transcription	HepG2	liver
26	chr12:58092800-58109400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:58093000-58106600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:58093400-58106400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:58093400-58109600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:58093400-58115400	Weak transcription	Fetal Brain Male	brain
31	chr12:58093600-58109000	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:58094400-58106400	Weak transcription	Spleen	Spleen
33	chr12:58094400-58119600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:58094600-58099600	Weak transcription	Left Ventricle	heart
35	chr12:58094600-58101000	Weak transcription	Gastric	stomach
36	chr12:58095400-58100000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:58095400-58101400	Strong transcription	Fetal Lung	lung
38	chr12:58095400-58103000	Strong transcription	Liver	Liver
39	chr12:58095600-58102400	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:58095800-58101600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:58096000-58099400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:58096000-58100600	Strong transcription	Placenta	Placenta
43	chr12:58096000-58101600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:58096000-58102200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr12:58096200-58098800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:58096200-58099000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:58096200-58099200	Strong transcription	HSMM	muscle
48	chr12:58096200-58102800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr12:58096400-58100200	Strong transcription	Brain Anterior Caudate	brain
50	chr12:58096600-58099000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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