Variant report

Variant	rs1333042
Chromosome Location	chr9:22103813-22103814
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:21802549..21804792-chr9:22102376..22104228,3	MCF-7	breast:
2	chr9:22103217..22103971-chr9:22136513..22137057,2	MCF-7	breast:
3	chr9:21834613..21838113-chr9:22103301..22107241,3	MCF-7	breast:
4	chr9:22007684..22010358-chr9:22101724..22104831,4	MCF-7	breast:
5	chr9:22040082..22042257-chr9:22102336..22104527,2	MCF-7	breast:
6	chr9:22102592..22104298-chr9:22138020..22139528,2	MCF-7	breast:
7	chr9:22078947..22090885-chr9:22096375..22111093,52	MCF-7	breast:
8	chr9:22101484..22107036-chr9:22107375..22109985,6	MCF-7	breast:
9	chr9:21993263..21997117-chr9:22103044..22108269,7	MCF-7	breast:
10	chr9:22080093..22089919-chr9:22099951..22109614,29	MCF-7	breast:
11	chr9:22007811..22009878-chr9:22100767..22104347,3	MCF-7	breast:
12	chr9:22100911..22107878-chr9:22236967..22244514,15	MCF-7	breast:
13	chr9:21834165..21837043-chr9:22102192..22103833,2	MCF-7	breast:
14	chr9:22103351..22105009-chr9:22124811..22127367,2	MCF-7	breast:
15	chr9:21827752..21829357-chr9:22103639..22105234,2	MCF-7	breast:
16	chr9:21994077..21998286-chr9:22100828..22106631,7	MCF-7	breast:
17	chr9:22101600..22106273-chr9:22113482..22120974,11	MCF-7	breast:
18	chr9:22036402..22038811-chr9:22103788..22105805,3	MCF-7	breast:
19	chr9:22103684..22105662-chr9:22133827..22136503,2	MCF-7	breast:
20	chr9:22102906..22108968-chr9:22209587..22214559,10	MCF-7	breast:
21	chr9:22100896..22105456-chr9:22157698..22160659,5	MCF-7	breast:
22	chr9:21800490..21807994-chr9:22100829..22105470,8	MCF-7	breast:
23	chr9:22102619..22105197-chr9:22133745..22136663,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147889	Chromatin interaction
ENSG00000266446	Chromatin interaction
ENSG00000147883	Chromatin interaction
ENSG00000240498	Chromatin interaction
ENSG00000099810	Chromatin interaction
ENSG00000264545	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1004638	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10116277	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.85[LWK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10217586	0.83[EUR][1000 genomes]
rs10511701	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10733376	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10738606	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10738607	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10738608	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10738609	0.93[EUR][1000 genomes]
rs10738610	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs10757272	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10757273	0.92[ASN][1000 genomes]
rs10757274	0.95[EUR][1000 genomes]
rs10757275	0.95[EUR][1000 genomes]
rs10757277	0.88[EUR][1000 genomes]
rs10757278	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs10757279	0.89[EUR][1000 genomes]
rs10811653	0.81[EUR][1000 genomes]
rs10811654	0.91[EUR][1000 genomes]
rs10811656	0.85[EUR][1000 genomes]
rs1333040	0.82[GIH][hapmap]
rs1333043	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1333046	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs1333047	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1333048	0.96[CEU][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs1333049	0.89[CEU][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs1412834	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1537370	1.00[CEU][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs1537371	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1537373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1537374	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1537375	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1537376	0.95[EUR][1000 genomes]
rs1556516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1970112	0.85[EUR][1000 genomes]
rs2210538	0.84[EUR][1000 genomes]
rs2383206	0.95[EUR][1000 genomes]
rs2383207	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2891168	1.00[CEU][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs4977574	1.00[CEU][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs4977575	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4977757	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6475606	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.85[LWK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6475609	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7341786	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7341791	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7857118	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7857345	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs7859362	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7859727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs944797	0.95[EUR][1000 genomes]
rs9644860	0.83[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	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

Variant related diseases (count:1)

Disease	PMID	Source
Coronary heart disease	23364394	GWAS catalog

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22097200-22105400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:22097800-22105400	Weak transcription	Colonic Mucosa	Colon
3	chr9:22097800-22122400	Weak transcription	Dnd41	blood
4	chr9:22098000-22104200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:22098000-22107600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:22099400-22107200	Weak transcription	Small Intestine	intestine
7	chr9:22099600-22104000	Weak transcription	Adipose Nuclei	Adipose
8	chr9:22101600-22104400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:22101600-22109800	Enhancers	Fetal Intestine Large	intestine
10	chr9:22101600-22110000	Enhancers	Fetal Intestine Small	intestine
11	chr9:22101800-22104000	Enhancers	HSMMtube	muscle
12	chr9:22101800-22104200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr9:22101800-22104200	Enhancers	HSMM	muscle
14	chr9:22101800-22104400	Enhancers	Placenta	Placenta
15	chr9:22101800-22104600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr9:22101800-22104600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:22101800-22104600	Enhancers	NHEK	skin
18	chr9:22101800-22105200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr9:22101800-22105200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:22101800-22105600	Enhancers	NHDF-Ad	bronchial
21	chr9:22101800-22105800	Enhancers	HMEC	breast
22	chr9:22101800-22105800	Enhancers	NHLF	lung
23	chr9:22101800-22106000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr9:22101800-22106400	Enhancers	Duodenum Mucosa	Duodenum
25	chr9:22102000-22104600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:22102000-22105000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:22102000-22105400	Enhancers	NH-A	brain
28	chr9:22102200-22104200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr9:22102200-22105000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:22102400-22104000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr9:22102400-22104600	Enhancers	Stomach Mucosa	stomach
32	chr9:22102400-22104600	Enhancers	HUVEC	blood vessel
33	chr9:22102400-22104800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr9:22102400-22105000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr9:22102400-22105600	Enhancers	Osteobl	bone
36	chr9:22102600-22104400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr9:22102600-22104600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr9:22102800-22104400	Enhancers	Psoas Muscle	Psoas
39	chr9:22102800-22104600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:22103000-22104000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr9:22103000-22104400	Weak transcription	GM12878-XiMat	blood
42	chr9:22103200-22104000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:22103200-22104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:22103400-22104200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr9:22103400-22104800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr9:22103400-22105000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr9:22103400-22105000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr9:22103400-22106200	Enhancers	Hela-S3	cervix
49	chr9:22103600-22104000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr9:22103600-22104200	Weak transcription	Right Atrium	heart

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