Variant report

Variant	rs9370565
Chromosome Location	chr6:56998868-56998869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56953178..56955896-chr6:56996170..56998896,2	K562	blood:
2	chr6:56990280..56992648-chr6:56996805..56999111,2	K562	blood:

Variant related genes	Relation type
ENSG00000112200	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1157713	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12190416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12190434	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192711	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12210597	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12211611	0.90[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2100305	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2273921	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3734738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3778515	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3800019	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs3996929	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3996933	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3996937	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4715646	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6459180	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6913707	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6926980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6928715	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6929783	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6936472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743855	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7744316	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7744824	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7753537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7753927	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7763570	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8180538	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9349843	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367704	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9367708	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9396259	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885757	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[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
rs9370565	RAB23	Cis_1M	lymphoblastoid	RTeQTL
rs9370565	KIAA1586	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 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	chr6:56968400-57000800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:56968600-57002200	Weak transcription	Thymus	Thymus
6	chr6:56968600-57006600	Weak transcription	Brain Angular Gyrus	brain
7	chr6:56968600-57018400	Weak transcription	Psoas Muscle	Psoas
8	chr6:56969600-56999000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:56970200-57007600	Weak transcription	Fetal Kidney	kidney
10	chr6:56974000-57001000	Weak transcription	NH-A	brain
11	chr6:56974000-57012400	Weak transcription	HUVEC	blood vessel
12	chr6:56974200-57012000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:56974400-56999600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:56975000-57006400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:56975400-57006800	Weak transcription	NHLF	lung
16	chr6:56985600-57036800	Weak transcription	Pancreas	Pancrea
17	chr6:56986400-57012000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:56988000-57009000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:56988200-56999600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:56988200-57009400	Weak transcription	Fetal Intestine Small	intestine
21	chr6:56991600-57036600	Weak transcription	Small Intestine	intestine
22	chr6:56992200-57006600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:56992600-57000000	Strong transcription	Primary B cells from cord blood	blood
24	chr6:56992600-57003000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr6:56992600-57004000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr6:56992800-57003000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr6:56993000-57001000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:56993000-57001800	Weak transcription	A549	lung
29	chr6:56993000-57003200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:56993000-57017000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:56993800-57001200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:56994000-57000000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:56994400-57012000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:56994600-57001400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:56995600-56999200	Weak transcription	K562	blood
36	chr6:56995600-57012000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:56995800-56999800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:56995800-57006800	Weak transcription	Brain Anterior Caudate	brain
39	chr6:56995800-57006800	Weak transcription	Colon Smooth Muscle	Colon
40	chr6:56995800-57008800	Weak transcription	Fetal Stomach	stomach
41	chr6:56995800-57012600	Weak transcription	Right Ventricle	heart
42	chr6:56995800-57036600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:56996000-57036800	Weak transcription	Gastric	stomach
44	chr6:56996200-57002600	Strong transcription	HepG2	liver
45	chr6:56996200-57012200	Weak transcription	Lung	lung
46	chr6:56996200-57036600	Weak transcription	Fetal Brain Male	brain
47	chr6:56996400-56999800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:56996400-57001600	Weak transcription	HSMMtube	muscle
49	chr6:56996400-57012200	Weak transcription	Fetal Heart	heart
50	chr6:56996400-57036600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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