Variant report

Variant	rs186815
Chromosome Location	chr19:40594335-40594336
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40593483..40595649-chr19:40598012..40600965,2	K562	blood:
2	chr19:40558581..40561504-chr19:40593898..40595454,2	K562	blood:
3	chr19:40586085..40589151-chr19:40591998..40594903,3	K562	blood:

Extended variants
information (count: 176 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs1007628	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10401980	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10406471	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10406738	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10417013	0.82[ASN][1000 genomes]
rs10417043	0.82[ASN][1000 genomes]
rs10418196	0.80[ASN][1000 genomes]
rs11542840	0.81[ASN][1000 genomes]
rs1327185	0.85[JPT][hapmap]
rs1327193	0.85[JPT][hapmap]
rs13344062	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs163213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16973950	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16974093	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs170900	0.80[ASN][1000 genomes]
rs170901	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs173061	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17796769	0.81[ASN][1000 genomes]
rs17796901	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17797100	0.86[JPT][hapmap]
rs183504	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs186801	0.82[ASN][1000 genomes]
rs1926931	0.94[ASN][1000 genomes]
rs1926932	0.94[ASN][1000 genomes]
rs1926933	0.94[ASN][1000 genomes]
rs1926934	0.94[ASN][1000 genomes]
rs2111543	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2111544	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2231737	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs234301	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs234302	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs234303	0.90[ASN][1000 genomes]
rs234304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs234306	0.87[ASN][1000 genomes]
rs234308	0.81[ASN][1000 genomes]
rs234309	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs234310	0.87[ASN][1000 genomes]
rs234313	0.82[ASN][1000 genomes]
rs234315	0.82[ASN][1000 genomes]
rs234317	0.82[ASN][1000 genomes]
rs234318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs234323	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs234324	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs234325	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs234326	0.82[ASN][1000 genomes]
rs234328	0.82[ASN][1000 genomes]
rs234341	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs234343	0.85[ASN][1000 genomes]
rs234352	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs234353	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs234355	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs234356	0.90[ASN][1000 genomes]
rs234357	0.84[ASN][1000 genomes]
rs234360	0.87[ASN][1000 genomes]
rs234361	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs234370	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs234371	0.87[ASN][1000 genomes]
rs234374	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs24135	0.86[JPT][hapmap]
rs24136	0.85[JPT][hapmap]
rs24137	0.86[JPT][hapmap]
rs2542303	0.82[ASN][1000 genomes]
rs2569640	0.86[JPT][hapmap]
rs2569641	0.86[JPT][hapmap]
rs2569650	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2569651	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767604	0.85[JPT][hapmap]
rs2767607	0.85[JPT][hapmap]
rs2819956	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs28366011	0.82[ASN][1000 genomes]
rs28629274	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28890790	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2915972	0.85[JPT][hapmap]
rs2986595	0.94[ASN][1000 genomes]
rs3000956	0.95[ASN][1000 genomes]
rs337779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs337780	0.80[ASN][1000 genomes]
rs337782	0.80[ASN][1000 genomes]
rs337784	0.86[JPT][hapmap]
rs337785	1.00[JPT][hapmap]
rs337786	0.86[JPT][hapmap]
rs337787	0.86[JPT][hapmap]
rs337789	0.85[JPT][hapmap]
rs337792	0.85[JPT][hapmap]
rs337793	0.86[JPT][hapmap]
rs337794	1.00[JPT][hapmap]
rs337798	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs337799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs337800	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs337801	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34466648	0.83[CHB][hapmap]
rs365055	0.82[ASN][1000 genomes]
rs371500	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs372599	0.81[ASN][1000 genomes]
rs3760920	0.83[CHB][hapmap]
rs387202	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3887029	0.91[CHB][hapmap]
rs392958	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3930885	0.82[ASN][1000 genomes]
rs404754	0.82[ASN][1000 genomes]
rs416283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs420579	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs421533	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs424353	0.87[ASN][1000 genomes]
rs426950	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4577216	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs459091	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs57219798	0.81[ASN][1000 genomes]
rs57880771	0.94[ASN][1000 genomes]
rs57900299	0.93[ASN][1000 genomes]
rs58003479	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58210425	0.89[ASN][1000 genomes]
rs58284735	0.89[ASN][1000 genomes]
rs58395013	0.91[ASN][1000 genomes]
rs58440570	0.91[ASN][1000 genomes]
rs58941665	0.89[ASN][1000 genomes]
rs59502139	0.91[ASN][1000 genomes]
rs59925663	0.81[ASN][1000 genomes]
rs60080503	0.85[ASN][1000 genomes]
rs60449727	0.93[ASN][1000 genomes]
rs60887294	0.82[ASN][1000 genomes]
rs61236589	0.82[ASN][1000 genomes]
rs61385499	0.84[ASN][1000 genomes]
rs615215	0.87[ASN][1000 genomes]
rs7247527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7257747	0.90[ASN][1000 genomes]
rs7258202	0.90[ASN][1000 genomes]
rs7258506	0.91[ASN][1000 genomes]
rs7258627	0.91[ASN][1000 genomes]
rs7258778	0.90[ASN][1000 genomes]
rs7258974	0.94[ASN][1000 genomes]
rs7259855	0.94[ASN][1000 genomes]
rs7260378	0.94[ASN][1000 genomes]
rs73543974	0.81[ASN][1000 genomes]
rs73543979	0.81[ASN][1000 genomes]
rs73545909	0.82[ASN][1000 genomes]
rs73545911	0.82[ASN][1000 genomes]
rs73545934	0.82[ASN][1000 genomes]
rs73545936	0.82[ASN][1000 genomes]
rs73545938	0.82[ASN][1000 genomes]
rs73545945	0.82[ASN][1000 genomes]
rs73545950	0.82[ASN][1000 genomes]
rs73545955	0.82[ASN][1000 genomes]
rs73545975	0.82[ASN][1000 genomes]
rs73546001	0.82[ASN][1000 genomes]
rs73546002	0.82[ASN][1000 genomes]
rs73547618	0.82[ASN][1000 genomes]
rs73547620	0.82[ASN][1000 genomes]
rs73547638	0.82[ASN][1000 genomes]
rs73547652	0.84[ASN][1000 genomes]
rs73547656	0.84[ASN][1000 genomes]
rs73547663	0.84[ASN][1000 genomes]
rs73547676	0.84[ASN][1000 genomes]
rs73547677	0.84[ASN][1000 genomes]
rs73547696	0.89[ASN][1000 genomes]
rs73547702	0.89[ASN][1000 genomes]
rs73549804	0.89[ASN][1000 genomes]
rs73549810	0.91[ASN][1000 genomes]
rs73549811	0.91[ASN][1000 genomes]
rs73549820	0.91[ASN][1000 genomes]
rs73549821	0.88[ASN][1000 genomes]
rs73549825	0.94[ASN][1000 genomes]
rs73549826	0.94[ASN][1000 genomes]
rs73549829	0.94[ASN][1000 genomes]
rs73549833	0.94[ASN][1000 genomes]
rs73549835	0.94[ASN][1000 genomes]
rs73549836	0.94[ASN][1000 genomes]
rs8103294	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8105066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs8106032	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8108793	0.95[ASN][1000 genomes]
rs9783938	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9917073	0.87[ASN][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	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers 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 target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv2488	chr19:40593818-40631406	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs186815	AC005614.5	cis	lung	GTEx
rs186815	ZNF780A	cis	Esophagus Mucosa	GTEx
rs186815	ZNF780A	cis	Thyroid	GTEx
rs186815	ZNF780A	cis	lung	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40581800-40595600	Weak transcription	Stomach Mucosa	stomach
2	chr19:40583000-40595400	Weak transcription	NHLF	lung
3	chr19:40583200-40595400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:40583200-40595400	Weak transcription	Lung	lung
5	chr19:40583200-40595400	Weak transcription	Psoas Muscle	Psoas
6	chr19:40583200-40595400	Weak transcription	NH-A	brain
7	chr19:40583200-40596000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:40583400-40595400	Weak transcription	Small Intestine	intestine
9	chr19:40583800-40595400	Weak transcription	Right Ventricle	heart
10	chr19:40586600-40594800	Weak transcription	Fetal Heart	heart
11	chr19:40586600-40595400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:40586600-40595400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:40586800-40594600	Weak transcription	Fetal Brain Male	brain
14	chr19:40586800-40595400	Weak transcription	Hela-S3	cervix
15	chr19:40587200-40595400	Weak transcription	Placenta	Placenta
16	chr19:40588800-40594800	Weak transcription	Fetal Kidney	kidney
17	chr19:40589200-40594800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr19:40589200-40595400	Weak transcription	HSMMtube	muscle
19	chr19:40589400-40594600	Weak transcription	Colon Smooth Muscle	Colon
20	chr19:40589400-40595200	Weak transcription	HMEC	breast
21	chr19:40589400-40595400	Weak transcription	HSMM	muscle
22	chr19:40589400-40595600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:40589400-40595600	Weak transcription	Osteobl	bone
24	chr19:40589600-40595000	Weak transcription	K562	blood
25	chr19:40589600-40595000	Weak transcription	NHDF-Ad	bronchial
26	chr19:40589600-40595200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:40589600-40595400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:40589600-40595800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:40589600-40595800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr19:40589800-40595400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr19:40589800-40595400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr19:40590200-40595000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr19:40590200-40595200	Weak transcription	Brain Substantia Nigra	brain
34	chr19:40590400-40594600	Weak transcription	Fetal Brain Female	brain
35	chr19:40590400-40595400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr19:40590400-40595400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr19:40590600-40594600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:40590600-40594800	Weak transcription	NHEK	skin
39	chr19:40590600-40595200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:40590600-40595200	Weak transcription	Brain Anterior Caudate	brain
41	chr19:40590600-40595400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr19:40590800-40594600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:40590800-40594600	Enhancers	HepG2	liver
44	chr19:40590800-40595000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr19:40590800-40595200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:40590800-40595200	Weak transcription	Fetal Lung	lung
47	chr19:40590800-40595400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:40590800-40595400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr19:40590800-40595400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr19:40590800-40595400	Weak transcription	HUVEC	blood vessel

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