Variant report

Variant	rs7793614
Chromosome Location	chr7:56133204-56133205
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:56117123..56123487-chr7:56128716..56133468,11	MCF-7	breast:
2	chr7:56131320..56133312-chr7:56141582..56144695,3	MCF-7	breast:
3	chr7:56128796..56131648-chr7:56132241..56134727,3	MCF-7	breast:
4	chr7:56126631..56129395-chr7:56129953..56133299,4	MCF-7	breast:
5	chr7:56031242..56032808-chr7:56131882..56133699,2	K562	blood:
6	chr7:56129744..56132010-chr7:56132396..56134919,2	K562	blood:
7	chr7:56132043..56135542-chr7:56146792..56149237,3	K562	blood:
8	chr7:56130207..56133425-chr7:56142360..56145052,4	K562	blood:
9	chr7:56132081..56135205-chr7:56137628..56140599,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000207168	Chromatin interaction
ENSG00000146729	Chromatin interaction
ENSG00000129103	Chromatin interaction
ENSG00000146731	Chromatin interaction
ENSG00000146733	Chromatin interaction
ENSG00000206603	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10265826	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10274148	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10800	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12154781	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12155441	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12536548	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12537948	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12668193	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12671494	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12673255	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13438048	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2014042	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2242509	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28438587	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28558245	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3778867	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3813505	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4424212	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4427122	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4585698	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55940597	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58251663	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59723101	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6947671	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6960348	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6970842	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6971804	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73140779	0.91[AFR][1000 genomes]
rs73140793	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73140794	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs766334	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7793536	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
6	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
7	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
8	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
9	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
10	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7793614	SUMF2	cis	lung	GTEx
rs7793614	SUMF2	cis	Esophagus Muscularis	GTEx
rs7793614	SUMF2	cis	Whole Blood	GTEx
rs7793614	SUMF2	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56131600-56133600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:56131600-56133800	Active TSS	Placenta	Placenta
3	chr7:56131800-56133400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:56131800-56133400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr7:56131800-56133400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:56131800-56133400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:56131800-56133400	Active TSS	Duodenum Mucosa	Duodenum
8	chr7:56131800-56133400	Active TSS	Fetal Brain Female	brain
9	chr7:56131800-56133400	Active TSS	Fetal Intestine Large	intestine
10	chr7:56131800-56133400	Active TSS	GM12878-XiMat	blood
11	chr7:56131800-56133400	Active TSS	K562	blood
12	chr7:56131800-56133400	Active TSS	NHDF-Ad	bronchial
13	chr7:56131800-56133600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:56131800-56133600	Active TSS	Primary T cells from cord blood	blood
15	chr7:56131800-56133600	Active TSS	Rectal Smooth Muscle	rectum
16	chr7:56131800-56133600	Active TSS	A549	lung
17	chr7:56131800-56146800	Weak transcription	Fetal Heart	heart
18	chr7:56132000-56133600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:56132000-56133600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:56132000-56133600	Active TSS	HSMM	muscle
21	chr7:56132200-56133600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:56132400-56133400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:56132400-56141800	Weak transcription	Stomach Mucosa	stomach
24	chr7:56132400-56145400	Weak transcription	Spleen	Spleen
25	chr7:56132600-56133400	Weak transcription	Small Intestine	intestine
26	chr7:56132600-56136200	Weak transcription	Gastric	stomach
27	chr7:56132600-56136400	Weak transcription	Lung	lung
28	chr7:56132800-56133400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:56132800-56136200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:56132800-56136400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:56133000-56133400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr7:56133000-56133400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:56133000-56133400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr7:56133000-56133400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr7:56133000-56133400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:56133000-56133400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:56133000-56133400	Flanking Active TSS	HUVEC	blood vessel
38	chr7:56133000-56133400	Flanking Active TSS	NHEK	skin
39	chr7:56133000-56133400	Flanking Active TSS	Osteobl	bone
40	chr7:56133000-56133600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:56133000-56133600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr7:56133000-56133600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:56133000-56133600	Flanking Active TSS	Dnd41	blood
44	chr7:56133000-56133800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:56133000-56136200	Weak transcription	Aorta	Aorta
46	chr7:56133000-56136600	Weak transcription	Pancreas	Pancrea
47	chr7:56133200-56133400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:56133200-56133400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:56133200-56133400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:56133200-56133400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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