Variant report

Variant	rs60321073
Chromosome Location	chr19:19499598-19499599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19495178..19498166-chr19:19498420..19501797,5	MCF-7	breast:
2	chr19:19494732..19500297-chr19:19512585..19520288,14	MCF-7	breast:
3	chr19:19491673..19504307-chr19:19513999..19523684,33	K562	blood:
4	chr19:19495579..19499237-chr19:19499394..19505586,7	K562	blood:
5	chr19:19499575..19501902-chr19:19506354..19508385,3	K562	blood:
6	chr19:19476417..19478794-chr19:19498125..19500397,2	K562	blood:
7	chr19:19497521..19500034-chr19:19556713..19558858,2	K562	blood:
8	chr19:19489733..19491954-chr19:19497664..19499602,2	K562	blood:
9	chr19:19494245..19498286-chr19:19498313..19501756,5	MCF-7	breast:
10	chr19:19499586..19501861-chr19:19503072..19505827,3	K562	blood:
11	chr19:19492268..19501550-chr19:19512499..19523684,29	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction
ENSG00000267234	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1000237	0.88[ASN][1000 genomes]
rs10401193	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10402627	0.81[ASN][1000 genomes]
rs10403731	0.83[EUR][1000 genomes]
rs10404728	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10405625	0.84[ASN][1000 genomes]
rs10410664	0.84[ASN][1000 genomes]
rs10414830	0.84[ASN][1000 genomes]
rs10419672	0.82[EUR][1000 genomes]
rs1054284	0.89[ASN][1000 genomes]
rs1063966	0.81[ASN][1000 genomes]
rs11085261	0.82[EUR][1000 genomes]
rs11669516	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12972397	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12973258	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12975119	0.84[ASN][1000 genomes]
rs12977524	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12983940	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1465695	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1469712	0.84[ASN][1000 genomes]
rs1469713	0.82[ASN][1000 genomes]
rs17288409	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858999	0.90[ASN][1000 genomes]
rs2082421	0.87[ASN][1000 genomes]
rs2099333	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2099334	0.84[ASN][1000 genomes]
rs2163804	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2163805	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2285628	0.81[EUR][1000 genomes]
rs2301671	0.82[EUR][1000 genomes]
rs2315279	0.88[ASN][1000 genomes]
rs2315281	0.87[ASN][1000 genomes]
rs28478453	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2905431	0.89[ASN][1000 genomes]
rs2905435	0.83[ASN][1000 genomes]
rs2916069	0.88[ASN][1000 genomes]
rs2916073	0.84[ASN][1000 genomes]
rs2916074	0.84[ASN][1000 genomes]
rs2916076	0.84[ASN][1000 genomes]
rs2965175	0.84[ASN][1000 genomes]
rs2965180	0.90[ASN][1000 genomes]
rs2965182	0.84[ASN][1000 genomes]
rs2965183	0.84[ASN][1000 genomes]
rs2965188	0.87[ASN][1000 genomes]
rs2965189	0.88[ASN][1000 genomes]
rs34277109	0.90[ASN][1000 genomes]
rs34647936	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35418933	0.88[ASN][1000 genomes]
rs3752151	0.89[ASN][1000 genomes]
rs4808196	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4808198	0.82[ASN][1000 genomes]
rs4808199	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808200	0.84[ASN][1000 genomes]
rs4808202	0.84[ASN][1000 genomes]
rs4808203	0.84[ASN][1000 genomes]
rs4808950	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808955	0.83[ASN][1000 genomes]
rs4808957	0.83[ASN][1000 genomes]
rs4808959	0.84[ASN][1000 genomes]
rs4808960	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808961	0.84[ASN][1000 genomes]
rs4808964	0.87[ASN][1000 genomes]
rs60003758	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6511036	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6909	0.81[ASN][1000 genomes]
rs7250658	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7252888	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7256149	0.85[ASN][1000 genomes]
rs7258508	0.90[EUR][1000 genomes]
rs751858	0.86[EUR][1000 genomes]
rs754255	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs892022	0.87[ASN][1000 genomes]
rs9304960	0.82[EUR][1000 genomes]
rs9917108	0.82[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	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60321073	KIAA0892	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19497600-19501000	Weak transcription	Brain Angular Gyrus	brain
2	chr19:19497600-19515800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:19497800-19499600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:19497800-19499600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:19497800-19500000	Enhancers	Liver	Liver
6	chr19:19497800-19500400	Enhancers	Small Intestine	intestine
7	chr19:19497800-19501000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:19498000-19499600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:19498000-19499600	Enhancers	Primary B cells from cord blood	blood
10	chr19:19498000-19499600	Enhancers	Primary B cells from peripheral blood	blood
11	chr19:19498000-19499600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:19498000-19499600	Enhancers	HMEC	breast
13	chr19:19498000-19499800	Enhancers	Lung	lung
14	chr19:19498000-19500200	Weak transcription	Brain Germinal Matrix	brain
15	chr19:19498000-19500200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr19:19498000-19500200	Enhancers	Stomach Mucosa	stomach
17	chr19:19498000-19500400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr19:19498000-19500400	Enhancers	Fetal Intestine Large	intestine
19	chr19:19498000-19500400	Enhancers	HUVEC	blood vessel
20	chr19:19498000-19500400	Enhancers	Osteobl	bone
21	chr19:19498000-19500600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:19498000-19500800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr19:19498000-19501000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:19498000-19501200	Enhancers	Placenta	Placenta
25	chr19:19498000-19501400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:19498000-19501400	Weak transcription	Brain Substantia Nigra	brain
27	chr19:19498000-19501400	Enhancers	Fetal Muscle Leg	muscle
28	chr19:19498000-19501400	Enhancers	Psoas Muscle	Psoas
29	chr19:19498000-19502000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:19498000-19502200	Enhancers	Spleen	Spleen
31	chr19:19498000-19502600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:19498000-19505400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr19:19498000-19505600	Weak transcription	Gastric	stomach
34	chr19:19498000-19506600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr19:19498000-19510400	Weak transcription	A549	lung
36	chr19:19498000-19510400	Weak transcription	NHDF-Ad	bronchial
37	chr19:19498000-19515600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr19:19498200-19499800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr19:19498200-19500000	Enhancers	Primary hematopoietic stem cells	blood
40	chr19:19498200-19500200	Enhancers	Fetal Intestine Small	intestine
41	chr19:19498200-19500400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr19:19498200-19500600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr19:19498200-19500600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:19498200-19501600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:19498200-19502600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr19:19498200-19502600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:19498200-19502800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr19:19498200-19505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:19498200-19510400	Weak transcription	Fetal Stomach	stomach
50	chr19:19498400-19500200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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