Variant report

Variant	rs1970112
Chromosome Location	chr9:22085598-22085599
allele	C/T
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:22083098..22086682-chr9:22096423..22099338,3	MCF-7	breast:
2	chr9:21830900..21838533-chr9:22079723..22086252,27	MCF-7	breast:
3	chr9:22084724..22086356-chr9:22156739..22158891,2	MCF-7	breast:
4	chr9:22080093..22089919-chr9:22099951..22109614,29	MCF-7	breast:
5	chr9:22084984..22089844-chr9:22117518..22121243,5	MCF-7	breast:
6	chr9:22084266..22085996-chr9:22132366..22134848,2	MCF-7	breast:
7	chr9:22083985..22087437-chr9:22237738..22239809,4	MCF-7	breast:
8	chr9:22007076..22009631-chr9:22082239..22086299,4	MCF-7	breast:
9	chr9:22082310..22089949-chr9:22236353..22239754,11	MCF-7	breast:
10	chr9:22008068..22010520-chr9:22084709..22086307,2	MCF-7	breast:
11	chr9:21815119..21818552-chr9:22084345..22087438,5	MCF-7	breast:
12	chr9:22078947..22090885-chr9:22096375..22111093,52	MCF-7	breast:
13	chr9:22084880..22086467-chr9:22209801..22211580,2	MCF-7	breast:
14	chr9:22083425..22085811-chr9:22242002..22244310,2	MCF-7	breast:
15	chr9:21831674..21838507-chr9:22079741..22086703,33	MCF-7	breast:
16	chr9:22085206..22088406-chr9:22135474..22138114,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147883	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1004638	0.82[EUR][1000 genomes]
rs10116277	0.96[EUR][1000 genomes]
rs10511701	0.83[EUR][1000 genomes]
rs10733376	0.82[EUR][1000 genomes]
rs10738606	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10738607	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10738608	0.82[EUR][1000 genomes]
rs10738609	0.83[EUR][1000 genomes]
rs10738610	0.85[EUR][1000 genomes]
rs10757270	0.89[ASN][1000 genomes]
rs10757271	0.84[EUR][1000 genomes]
rs10757272	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10757274	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10757275	0.85[EUR][1000 genomes]
rs10757277	0.81[EUR][1000 genomes]
rs10757278	0.81[EUR][1000 genomes]
rs10757279	0.81[EUR][1000 genomes]
rs10811652	0.85[EUR][1000 genomes]
rs10811654	0.85[EUR][1000 genomes]
rs1333042	0.85[EUR][1000 genomes]
rs1333043	0.83[EUR][1000 genomes]
rs1333046	0.85[EUR][1000 genomes]
rs1333048	0.86[EUR][1000 genomes]
rs1333049	0.81[EUR][1000 genomes]
rs1412834	0.82[EUR][1000 genomes]
rs1537370	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1537371	0.86[EUR][1000 genomes]
rs1537373	0.86[EUR][1000 genomes]
rs1537374	0.82[EUR][1000 genomes]
rs1537375	0.83[EUR][1000 genomes]
rs1537376	0.82[EUR][1000 genomes]
rs1556516	0.86[EUR][1000 genomes]
rs1831733	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2383206	0.82[EUR][1000 genomes]
rs2383207	0.82[EUR][1000 genomes]
rs2891168	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4977574	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6475606	0.96[EUR][1000 genomes]
rs6475609	0.83[EUR][1000 genomes]
rs7341786	0.81[EUR][1000 genomes]
rs7341791	0.81[EUR][1000 genomes]
rs7857118	0.83[EUR][1000 genomes]
rs7859362	0.83[EUR][1000 genomes]
rs7859727	0.88[EUR][1000 genomes]
rs944797	0.82[EUR][1000 genomes]
rs9632885	0.82[EUR][1000 genomes];0.90[ASN][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	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	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22080600-22089400	Weak transcription	Dnd41	blood
2	chr9:22080600-22098600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:22083200-22086000	Enhancers	Hela-S3	cervix
4	chr9:22083400-22086000	Enhancers	HMEC	breast
5	chr9:22083600-22086000	Enhancers	NH-A	brain
6	chr9:22083800-22086000	Enhancers	Osteobl	bone
7	chr9:22084000-22085600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr9:22084000-22086000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:22084000-22086000	Enhancers	NHLF	lung
10	chr9:22084000-22086200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:22084400-22085600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:22084400-22085800	Enhancers	Duodenum Mucosa	Duodenum
13	chr9:22084400-22086000	Enhancers	Adipose Nuclei	Adipose
14	chr9:22084800-22085800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr9:22085000-22085600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:22085000-22085800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:22085000-22086600	Weak transcription	Fetal Intestine Small	intestine
18	chr9:22085000-22087800	Weak transcription	Fetal Intestine Large	intestine
19	chr9:22085200-22085600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:22085200-22085800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:22085200-22085800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:22085200-22088200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr9:22085400-22085600	Enhancers	NHEK	skin
24	chr9:22085400-22086400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:22085400-22086800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr9:22085400-22087000	Weak transcription	Placenta	Placenta
27	chr9:22085400-22088000	Weak transcription	Stomach Mucosa	stomach
28	chr9:22085400-22088400	Weak transcription	HSMMtube	muscle

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