Variant report

Variant	rs7469116
Chromosome Location	chr9:101528013-101528014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101525358..101528141-chr9:101554411..101556510,2	K562	blood:
2	chr9:101527672..101531137-chr9:101531732..101534659,4	K562	blood:
3	chr9:101525437..101530205-chr9:101533876..101536936,4	MCF-7	breast:
4	chr9:101525116..101528119-chr9:101542195..101544666,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10121153	0.90[ASN][1000 genomes]
rs1022796	0.90[ASN][1000 genomes]
rs10739690	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10760475	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10760479	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10760494	0.88[ASN][1000 genomes]
rs10819266	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10819308	0.91[ASN][1000 genomes]
rs10819320	0.90[ASN][1000 genomes]
rs10987749	0.88[ASN][1000 genomes]
rs11791440	0.88[ASN][1000 genomes]
rs12057064	0.85[EUR][1000 genomes]
rs12380570	0.81[EUR][1000 genomes]
rs1555519	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs168083	0.84[EUR][1000 genomes]
rs337581	0.84[EUR][1000 genomes]
rs337591	0.81[EUR][1000 genomes]
rs3933477	0.88[ASN][1000 genomes]
rs422531	0.85[EUR][1000 genomes]
rs4742737	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4742738	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4742741	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4742745	0.90[ASN][1000 genomes]
rs4743278	0.93[ASN][1000 genomes]
rs4743281	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4743282	0.85[ASN][1000 genomes]
rs554730	0.81[EUR][1000 genomes]
rs580809	0.85[EUR][1000 genomes]
rs60698775	0.85[EUR][1000 genomes]
rs6478839	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6478845	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7018907	0.93[ASN][1000 genomes]
rs7020056	0.95[ASN][1000 genomes]
rs7027405	0.92[ASN][1000 genomes]
rs7027771	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7028766	0.85[EUR][1000 genomes]
rs7035107	0.81[EUR][1000 genomes]
rs7035722	0.85[EUR][1000 genomes]
rs7038640	0.88[ASN][1000 genomes]
rs7047722	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs72735324	0.85[EUR][1000 genomes]
rs72735326	0.85[EUR][1000 genomes]
rs7357783	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7853904	0.88[ASN][1000 genomes]
rs7861186	0.92[ASN][1000 genomes]
rs7865233	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9886821	0.95[ASN][1000 genomes]
rs9919074	0.85[EUR][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	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7469116	ANKS6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101494000-101532600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr9:101494000-101535200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr9:101494400-101553000	Weak transcription	Fetal Heart	heart
4	chr9:101496600-101549400	Weak transcription	Small Intestine	intestine
5	chr9:101498800-101529200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:101499200-101529800	Weak transcription	Placenta	Placenta
7	chr9:101503000-101537400	Weak transcription	HUVEC	blood vessel
8	chr9:101506600-101529200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:101506800-101553400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr9:101507400-101533200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr9:101508000-101532800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr9:101508600-101557400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr9:101510000-101534600	Weak transcription	NHLF	lung
14	chr9:101514400-101553400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr9:101514800-101533800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr9:101515200-101530000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:101515200-101530000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr9:101516600-101529600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr9:101517600-101537400	Weak transcription	NH-A	brain
20	chr9:101517800-101529400	Weak transcription	Brain Germinal Matrix	brain
21	chr9:101517800-101529800	Weak transcription	Colonic Mucosa	Colon
22	chr9:101518200-101528800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr9:101518200-101533400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:101518200-101537400	Weak transcription	Hela-S3	cervix
25	chr9:101518400-101529800	Weak transcription	Spleen	Spleen
26	chr9:101518600-101529200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr9:101518600-101531600	Weak transcription	HSMMtube	muscle
28	chr9:101518600-101534000	Weak transcription	Osteobl	bone
29	chr9:101518800-101529200	Weak transcription	Gastric	stomach
30	chr9:101518800-101529400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:101518800-101529600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr9:101518800-101529800	Weak transcription	Thymus	Thymus
33	chr9:101518800-101531400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr9:101518800-101531800	Weak transcription	Liver	Liver
35	chr9:101518800-101557200	Weak transcription	Psoas Muscle	Psoas
36	chr9:101519000-101529000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:101519000-101529200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr9:101519000-101529200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:101519000-101529400	Weak transcription	Brain Substantia Nigra	brain
40	chr9:101519000-101529600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr9:101519200-101529200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:101519800-101529400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr9:101520800-101529000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr9:101521000-101529000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr9:101521200-101529200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr9:101521200-101529200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr9:101521200-101529800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr9:101521200-101557600	Weak transcription	Fetal Brain Male	brain
49	chr9:101521400-101529000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr9:101521400-101529800	Weak transcription	Primary B cells from peripheral blood	blood

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