Variant report

Variant	rs12192711
Chromosome Location	chr6:57009751-57009752
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56994508..56996955-chr6:57008471..57010355,2	K562	blood:
2	chr6:57009034..57011540-chr6:57013395..57014899,2	K562	blood:
3	chr6:56993514..56996955-chr6:57008261..57010355,3	K562	blood:
4	chr6:56958459..56961139-chr6:57008086..57010930,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1157713	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12190416	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12190434	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12210597	0.96[ASN][1000 genomes]
rs12211611	1.00[ASN][1000 genomes]
rs2100305	0.80[ASN][1000 genomes]
rs2273921	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734738	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778515	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800019	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3996929	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3996933	0.80[ASN][1000 genomes]
rs3996937	0.82[ASN][1000 genomes]
rs4715646	0.80[ASN][1000 genomes]
rs6459180	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6913707	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6926980	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6928715	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929783	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6936472	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7744316	0.96[ASN][1000 genomes]
rs7744824	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7753537	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7753927	0.80[ASN][1000 genomes]
rs7763570	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8180538	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9349843	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9367704	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9367708	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9370564	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9370565	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9382689	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9396259	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs952647	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9885757	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv462949	chr6:56973902-57098973	ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv603190	chr6:56973902-57098973	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12192711	KIAA1586	Cis_1M	lymphoblastoid	RTeQTL
rs12192711	RAB23	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56966600-57012400	Weak transcription	Spleen	Spleen
2	chr6:56966800-57018000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:56968200-57036400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:56968600-57018400	Weak transcription	Psoas Muscle	Psoas
5	chr6:56974000-57012400	Weak transcription	HUVEC	blood vessel
6	chr6:56974200-57012000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:56985600-57036800	Weak transcription	Pancreas	Pancrea
8	chr6:56986400-57012000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:56991600-57036600	Weak transcription	Small Intestine	intestine
10	chr6:56993000-57017000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:56994400-57012000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:56995600-57012000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:56995800-57012600	Weak transcription	Right Ventricle	heart
14	chr6:56995800-57036600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:56996000-57036800	Weak transcription	Gastric	stomach
16	chr6:56996200-57012200	Weak transcription	Lung	lung
17	chr6:56996200-57036600	Weak transcription	Fetal Brain Male	brain
18	chr6:56996400-57012200	Weak transcription	Fetal Heart	heart
19	chr6:56996400-57036600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:56997000-57011800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:56997200-57012400	Weak transcription	Esophagus	oesophagus
22	chr6:56997400-57012000	Weak transcription	Colonic Mucosa	Colon
23	chr6:56998800-57027400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:56999000-57011800	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:56999000-57012000	Weak transcription	Aorta	Aorta
26	chr6:56999000-57012000	Weak transcription	Ovary	ovary
27	chr6:56999600-57012000	Weak transcription	Left Ventricle	heart
28	chr6:56999800-57012000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:56999800-57012000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:56999800-57012400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:56999800-57036600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr6:57000000-57011800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:57000200-57012000	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:57001200-57013000	Weak transcription	Hela-S3	cervix
35	chr6:57001200-57036600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr6:57001800-57018600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr6:57002600-57011800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:57002600-57012000	Weak transcription	Thymus	Thymus
39	chr6:57002600-57036600	Weak transcription	A549	lung
40	chr6:57002800-57012200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:57003000-57012400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr6:57005000-57012200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:57005400-57010600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:57005600-57013600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr6:57005600-57021600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:57005600-57023400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:57005600-57023800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:57005800-57010600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr6:57005800-57022400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:57006000-57010400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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