Variant report

Variant	rs7043133
Chromosome Location	chr9:71510750-71510751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71509323..71512196-chr9:71514082..71515973,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10511962	0.87[MEX][hapmap]
rs10781227	0.87[MEX][hapmap]
rs10869396	0.83[MEX][hapmap]
rs10869400	0.87[MEX][hapmap]
rs10869401	0.91[MEX][hapmap]
rs10869419	0.83[MEX][hapmap]
rs10869432	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11144035	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12352694	0.90[ASN][1000 genomes]
rs1414947	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1414949	0.89[CEU][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1556751	0.84[JPT][hapmap]
rs2152651	0.89[JPT][hapmap]
rs4237270	0.89[CEU][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.85[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4744726	0.89[CEU][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4745353	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4745360	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4745366	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58625220	0.87[ASN][1000 genomes]
rs6560400	0.94[JPT][hapmap]
rs6560406	0.92[AMR][1000 genomes]
rs6560419	0.89[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6560420	0.80[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs7041004	0.90[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs7043242	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7043868	0.87[AMR][1000 genomes]
rs7048262	0.90[ASN][1000 genomes]
rs7048566	0.87[ASN][1000 genomes]
rs7851923	0.89[CEU][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs883952	0.91[MEX][hapmap];0.88[MKK][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv466393	chr9:71453443-71704827	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv614547	chr9:71453443-71704827	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
17	nsv614549	chr9:71506459-71659280	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7043133	TJP2	cis	parietal	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71459000-71519200	Weak transcription	Colonic Mucosa	Colon
2	chr9:71460800-71517000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr9:71492400-71515000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:71495800-71510800	Weak transcription	Aorta	Aorta
5	chr9:71496600-71515200	Weak transcription	HepG2	liver
6	chr9:71500200-71512000	Weak transcription	Placenta	Placenta
7	chr9:71502600-71516600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr9:71505400-71512000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr9:71506200-71511400	Weak transcription	Fetal Intestine Small	intestine
10	chr9:71508800-71512600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr9:71508800-71515200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:71509000-71511200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr9:71509000-71512200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:71509200-71511000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:71509200-71512000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr9:71509200-71514600	Enhancers	Fetal Heart	heart
17	chr9:71509400-71510800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:71509400-71511200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr9:71509400-71511600	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr9:71509600-71510800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:71509600-71511400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr9:71509600-71511600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr9:71509600-71512800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr9:71509600-71513000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr9:71509800-71510800	Enhancers	Primary B cells from peripheral blood	blood
26	chr9:71509800-71510800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr9:71509800-71511000	Enhancers	Adipose Nuclei	Adipose
28	chr9:71509800-71511600	Enhancers	Fetal Lung	lung
29	chr9:71509800-71511800	Weak transcription	Lung	lung
30	chr9:71509800-71512200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:71509800-71512200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr9:71509800-71514000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr9:71510000-71510800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:71510000-71510800	Enhancers	Brain Hippocampus Middle	brain
35	chr9:71510000-71510800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr9:71510000-71511200	Weak transcription	Fetal Muscle Leg	muscle
37	chr9:71510000-71511400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr9:71510000-71511800	Flanking Active TSS	Dnd41	blood
39	chr9:71510200-71510800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:71510200-71510800	Enhancers	Right Atrium	heart
41	chr9:71510200-71511400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr9:71510200-71511400	Weak transcription	NHDF-Ad	bronchial
43	chr9:71510200-71511600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr9:71510200-71511800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr9:71510200-71511800	Flanking Active TSS	GM12878-XiMat	blood
46	chr9:71510200-71512200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr9:71510400-71510800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:71510400-71511000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr9:71510400-71511200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr9:71510400-71511600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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