Variant report

Variant	rs1360590
Chromosome Location	chr9:22041443-22041444
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:22040543..22043191-chr9:22050935..22052870,2	MCF-7	breast:
2	chr9:22038203..22040201-chr9:22040203..22041986,3	MCF-7	breast:
3	chr9:22039593..22042094-chr9:22105940..22108380,2	MCF-7	breast:
4	chr9:22002758..22010749-chr9:22033383..22042446,18	MCF-7	breast:
5	chr9:22002042..22006678-chr9:22036206..22041573,7	MCF-7	breast:
6	chr9:22034736..22038556-chr9:22039205..22042136,3	MCF-7	breast:
7	chr9:22036137..22041888-chr9:22239404..22245288,7	MCF-7	breast:
8	chr9:22007719..22013279-chr9:22036472..22044819,13	MCF-7	breast:
9	chr9:22040792..22042968-chr9:22078121..22080153,2	MCF-7	breast:
10	chr9:22040082..22042257-chr9:22102336..22104527,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215221	Chromatin interaction
ENSG00000147883	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10115049	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10120688	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10120806	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10738605	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10757263	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10757264	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10757265	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10757266	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10757267	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10811640	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10811643	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10811644	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10811645	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10965212	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10965215	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10965219	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1333035	0.82[YRI][hapmap]
rs1333036	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1591136	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2106119	0.89[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2106120	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2151280	0.92[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2184061	0.81[ASN][1000 genomes]
rs2383204	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3218012	0.82[EUR][1000 genomes]
rs490005	0.87[ASN][1000 genomes]
rs496892	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4977753	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs504318	0.86[CEU][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs567453	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs581876	0.80[ASN][1000 genomes]
rs643319	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7027048	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027950	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7028570	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7035484	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7044859	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7049105	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs944799	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1018514	chr9:21944275-22075326	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv892747	chr9:21984661-22068646	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22030800-22041800	Weak transcription	Stomach Mucosa	stomach
2	chr9:22036000-22042600	Weak transcription	Esophagus	oesophagus
3	chr9:22036600-22042400	Weak transcription	Pancreas	Pancrea
4	chr9:22036600-22042400	Enhancers	Hela-S3	cervix
5	chr9:22036800-22042800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:22037000-22042200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:22037200-22042400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr9:22037200-22042800	Enhancers	Fetal Intestine Small	intestine
9	chr9:22037400-22042400	Enhancers	NHLF	lung
10	chr9:22037600-22041800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:22037600-22042800	Enhancers	NHEK	skin
12	chr9:22037800-22042600	Enhancers	NHDF-Ad	bronchial
13	chr9:22038200-22044000	Weak transcription	Dnd41	blood
14	chr9:22038600-22042000	Enhancers	Adipose Nuclei	Adipose
15	chr9:22039200-22042200	Enhancers	HSMMtube	muscle
16	chr9:22039200-22042800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:22039200-22042800	Enhancers	HMEC	breast
18	chr9:22039400-22041800	Weak transcription	Liver	Liver
19	chr9:22039400-22043200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr9:22039600-22042400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:22039800-22042800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:22040000-22042200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr9:22040000-22042600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:22040000-22042800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:22040000-22042800	Enhancers	HSMM	muscle
26	chr9:22040200-22046000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr9:22040400-22042200	Enhancers	Osteobl	bone
28	chr9:22040400-22042600	Enhancers	NH-A	brain
29	chr9:22040600-22042400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:22040800-22041800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:22040800-22042000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:22040800-22043200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr9:22041000-22045600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr9:22041000-22046400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr9:22041200-22042400	Weak transcription	Fetal Intestine Large	intestine
36	chr9:22041400-22042400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr9:22041400-22044600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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