Variant report

Variant	rs2296665
Chromosome Location	chr9:95271861-95271862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95268933..95272966-chr9:95273116..95276340,3	K562	blood:
2	chr5:70882181..70884550-chr9:95271152..95273648,2	MCF-7	breast:
3	chr9:95269994..95273497-chr9:95274133..95276340,3	K562	blood:
4	chr9:95265820..95267695-chr9:95271447..95273946,2	K562	blood:

Variant related genes	Relation type
ENSG00000131844	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10125510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10733744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10761159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1144933	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1152760	0.87[EUR][1000 genomes]
rs1152761	0.86[CEU][hapmap];0.91[EUR][1000 genomes]
rs1152762	0.91[EUR][1000 genomes]
rs1175737	0.91[EUR][1000 genomes]
rs2295939	0.85[EUR][1000 genomes]
rs230223	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2398749	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2761680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs331378	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4743871	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6479421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7042199	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7864453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9409469	0.93[CEU][hapmap];0.88[GIH][hapmap];0.88[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs9409665	0.93[CEU][hapmap];0.88[GIH][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs9409666	0.91[EUR][1000 genomes]
rs944949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.88[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv1822933	chr9:95255176-95293308	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2296665	ANKRD19	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95255000-95274600	Weak transcription	Liver	Liver
2	chr9:95268400-95274000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:95268600-95278600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:95269000-95273000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:95269400-95274600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:95269800-95274200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:95269800-95298800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr9:95270000-95272800	Weak transcription	Osteobl	bone
9	chr9:95270200-95273800	Weak transcription	NHEK	skin
10	chr9:95270400-95274000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:95270400-95275400	Weak transcription	Aorta	Aorta
12	chr9:95270400-95281000	Weak transcription	Thymus	Thymus
13	chr9:95270600-95274400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:95270600-95275200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:95270600-95275200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr9:95270600-95275400	Weak transcription	Psoas Muscle	Psoas
17	chr9:95270600-95275400	Weak transcription	Right Ventricle	heart
18	chr9:95270800-95274200	Weak transcription	NH-A	brain
19	chr9:95270800-95274200	Weak transcription	NHDF-Ad	bronchial
20	chr9:95270800-95274400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr9:95270800-95274600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:95270800-95274600	Weak transcription	Fetal Intestine Large	intestine
23	chr9:95270800-95278400	Weak transcription	Esophagus	oesophagus
24	chr9:95270800-95284800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr9:95271000-95274000	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:95271000-95274000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr9:95271000-95274200	Weak transcription	Fetal Intestine Small	intestine
28	chr9:95271000-95275200	Weak transcription	Fetal Stomach	stomach
29	chr9:95271000-95275200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr9:95271000-95275400	Weak transcription	Fetal Heart	heart
31	chr9:95271200-95272400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:95271200-95284800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:95271400-95274200	Weak transcription	Fetal Lung	lung
34	chr9:95271400-95274400	Weak transcription	Fetal Kidney	kidney
35	chr9:95271400-95275000	Weak transcription	Ovary	ovary
36	chr9:95271600-95272000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:95271600-95274000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr9:95271600-95274200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:95271600-95279200	Weak transcription	Gastric	stomach
40	chr9:95271600-95285600	Weak transcription	Left Ventricle	heart
41	chr9:95271800-95274400	Weak transcription	Adipose Nuclei	Adipose
42	chr9:95271800-95275400	Weak transcription	Fetal Muscle Leg	muscle

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