Variant report

Variant	rs2289062
Chromosome Location	chr7:56067124-56067125
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:56066101..56068145-chr7:56131960..56133537,2	K562	blood:
2	chr7:56065336..56067642-chr7:56077317..56078843,2	K562	blood:

Variant related genes	Relation type
ENSG00000129103	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10265826	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10274148	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1059309	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1078650	0.91[ASN][1000 genomes]
rs1136390	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11974040	0.96[ASN][1000 genomes]
rs12154231	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12154781	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12155441	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12532776	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12668504	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12668532	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12669185	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12674147	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12674334	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13231257	0.93[ASN][1000 genomes]
rs2006649	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2331095	0.90[ASN][1000 genomes]
rs28438587	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34795560	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34869068	0.90[ASN][1000 genomes]
rs35791463	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55852201	0.87[ASN][1000 genomes]
rs55940597	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58006921	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58981281	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59199266	0.82[ASN][1000 genomes]
rs59723101	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59849749	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60160896	0.93[ASN][1000 genomes]
rs60962915	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6593291	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6947853	0.83[ASN][1000 genomes]
rs6955639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970842	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6975697	0.90[ASN][1000 genomes]
rs73134780	0.90[ASN][1000 genomes]
rs73138774	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73138777	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73140793	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73140794	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7456530	0.93[ASN][1000 genomes]
rs7778601	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7781165	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7793536	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7795095	0.86[ASN][1000 genomes]
rs7798243	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7804578	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv1017793	chr7:56051267-56098030	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2289062	SUMF2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56033200-56081400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:56039200-56081600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:56045000-56067400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:56045200-56068200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:56045400-56067200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:56045400-56067400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:56045600-56067400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:56045600-56067400	Strong transcription	Fetal Intestine Large	intestine
9	chr7:56045800-56068000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr7:56046200-56067200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:56046400-56068200	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:56047000-56068400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:56049200-56101600	Weak transcription	Small Intestine	intestine
14	chr7:56050000-56086600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:56051400-56086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:56051800-56077000	Weak transcription	NHEK	skin
17	chr7:56053000-56074200	Weak transcription	Hela-S3	cervix
18	chr7:56053000-56078200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:56055200-56068600	Strong transcription	Left Ventricle	heart
20	chr7:56057000-56067400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:56058400-56067200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:56058400-56068400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:56058400-56077800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:56058600-56068200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr7:56058800-56067200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr7:56058800-56067200	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:56058800-56068400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:56059200-56067200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:56059200-56068400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr7:56059800-56068200	Strong transcription	Adipose Nuclei	Adipose
31	chr7:56059800-56068400	Strong transcription	Primary T cells from cord blood	blood
32	chr7:56059800-56068400	Strong transcription	Fetal Brain Female	brain
33	chr7:56060600-56099600	Weak transcription	HUVEC	blood vessel
34	chr7:56061400-56067400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:56061600-56067200	Strong transcription	Colon Smooth Muscle	Colon
36	chr7:56061800-56068200	Strong transcription	Placenta	Placenta
37	chr7:56061800-56068200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr7:56062400-56068000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:56062400-56068000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:56062400-56068200	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:56062600-56067400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr7:56062600-56067600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:56062600-56068200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:56062600-56068400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:56062800-56067200	Strong transcription	Brain Hippocampus Middle	brain
46	chr7:56062800-56068200	Strong transcription	Fetal Lung	lung
47	chr7:56063200-56067600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:56063200-56077800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:56063400-56069200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:56063400-56089600	Weak transcription	NHDF-Ad	bronchial

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