Variant report

Variant	rs6970842
Chromosome Location	chr7:56077235-56077236
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	chr7:56032122..56033835-chr7:56074864..56077337,2	MCF-7	breast:
2	chr7:56072684..56074184-chr7:56076449..56078761,2	K562	blood:

Variant related genes	Relation type
ENSG00000146729	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10265826	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10274148	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1059309	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10800	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11974040	0.83[CHD][hapmap]
rs12154781	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155441	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536548	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12537948	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12668193	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12668504	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12668532	0.95[CEU][hapmap];0.84[CHD][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes]
rs12669185	0.84[CHD][hapmap];0.84[MEX][hapmap]
rs12671494	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12673255	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13438048	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2006649	0.84[EUR][1000 genomes]
rs2014042	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2242509	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2270244	0.83[CEU][hapmap]
rs2289062	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28438587	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28558245	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35791463	0.82[AMR][1000 genomes]
rs3778867	0.82[EUR][1000 genomes]
rs3813505	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4255091	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs4345511	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4424212	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4427122	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4496923	0.87[CHB][hapmap];0.89[CHD][hapmap]
rs4585698	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55940597	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58006921	0.82[EUR][1000 genomes]
rs58251663	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58981281	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59723101	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6593291	0.84[CHD][hapmap];0.84[MEX][hapmap]
rs6947671	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6955639	0.95[CEU][hapmap];0.82[CHD][hapmap];0.89[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6960348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6962857	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs6971804	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73138774	0.84[EUR][1000 genomes]
rs73138777	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73140779	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73140793	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73140794	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7456530	0.83[CHD][hapmap]
rs766334	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7778601	0.95[CEU][hapmap];0.82[CHD][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7781165	0.82[AMR][1000 genomes]
rs7793536	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7793614	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7798243	0.84[CHD][hapmap];0.84[MEX][hapmap]
rs7804578	0.84[CHD][hapmap]

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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs6970842	SUMF2	cis	parietal	SCAN
rs6970842	SUMF2	cis	lymphoblastoid	seeQTL
rs6970842	SUMF2	cis	cerebellum	SCAN
rs6970842	SUMF2	cis	Whole Blood	GTEx
rs6970842	SUMF2	cis	Esophagus Muscularis	GTEx
rs6970842	ZNF713	cis	parietal	SCAN
rs6970842	ZNF713	cis	cerebellum	SCAN
rs6970842	SUMF2	cis	lung	GTEx
rs6970842	SUMF2	cis	Artery Tibial	GTEx

Chromatin state (count:108 , 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	chr7:56049200-56101600	Weak transcription	Small Intestine	intestine
4	chr7:56050000-56086600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:56051400-56086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:56053000-56078200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:56058400-56077800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:56060600-56099600	Weak transcription	HUVEC	blood vessel
9	chr7:56063200-56077800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:56063400-56089600	Weak transcription	NHDF-Ad	bronchial
11	chr7:56063400-56096800	Weak transcription	NH-A	brain
12	chr7:56063600-56079800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:56063600-56101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:56063600-56101200	Weak transcription	NHLF	lung
15	chr7:56064000-56078200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:56064200-56079600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:56064400-56087200	Weak transcription	Aorta	Aorta
18	chr7:56064400-56087200	Weak transcription	Esophagus	oesophagus
19	chr7:56064400-56101400	Weak transcription	Gastric	stomach
20	chr7:56064600-56078200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:56064800-56078600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:56065000-56081000	Weak transcription	HSMMtube	muscle
23	chr7:56065000-56081600	Weak transcription	Fetal Thymus	thymus
24	chr7:56065000-56101400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:56065000-56101400	Weak transcription	Colonic Mucosa	Colon
26	chr7:56065400-56078200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:56065400-56101400	Weak transcription	Fetal Brain Male	brain
28	chr7:56065800-56077400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:56065800-56078400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:56065800-56088400	Weak transcription	Fetal Kidney	kidney
31	chr7:56065800-56095800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:56066000-56078600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:56066200-56086600	Weak transcription	Ovary	ovary
34	chr7:56066600-56079200	Weak transcription	A549	lung
35	chr7:56066600-56087400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr7:56066800-56077800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:56066800-56086000	Weak transcription	Brain Germinal Matrix	brain
38	chr7:56067000-56078200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:56067000-56078400	Weak transcription	Dnd41	blood
40	chr7:56067000-56080400	Weak transcription	Thymus	Thymus
41	chr7:56067000-56080800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:56067000-56081400	Weak transcription	Osteobl	bone
43	chr7:56067000-56082200	Weak transcription	Lung	lung
44	chr7:56067000-56088600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:56067200-56087000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:56067200-56101400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr7:56067400-56078000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:56067400-56081000	Weak transcription	HSMM	muscle
49	chr7:56067400-56087200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:56067400-56087600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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