Variant report

Variant	rs4345511
Chromosome Location	chr7:56135458-56135459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:56133732..56135690-chr7:56136842..56138711,3	MCF-7	breast:
2	chr7:56132043..56135542-chr7:56146792..56149237,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10265826	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10274148	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10800	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12154781	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12155441	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12536548	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537948	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12668193	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12671494	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12673255	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13438048	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2014042	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2242509	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28438587	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28558245	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3778867	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3813505	0.96[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];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4427122	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4585698	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55940597	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58251663	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59723101	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6947671	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6960348	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6970842	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6971804	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73140779	0.91[AFR][1000 genomes]
rs73140793	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73140794	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs766334	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7793536	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7793614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4345511	SUMF2	cis	Artery Tibial	GTEx
rs4345511	SUMF2	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56131800-56146800	Weak transcription	Fetal Heart	heart
2	chr7:56132400-56141800	Weak transcription	Stomach Mucosa	stomach
3	chr7:56132400-56145400	Weak transcription	Spleen	Spleen
4	chr7:56132600-56136200	Weak transcription	Gastric	stomach
5	chr7:56132600-56136400	Weak transcription	Lung	lung
6	chr7:56132800-56136200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:56132800-56136400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:56133000-56136200	Weak transcription	Aorta	Aorta
9	chr7:56133000-56136600	Weak transcription	Pancreas	Pancrea
10	chr7:56133200-56136000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:56133200-56136000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:56133200-56136000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:56133200-56136000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:56133200-56136000	Weak transcription	Fetal Thymus	thymus
15	chr7:56133200-56136000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:56133200-56136200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:56133200-56136200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:56133200-56136200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:56133200-56136200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:56133200-56136200	Weak transcription	Brain Anterior Caudate	brain
21	chr7:56133200-56136200	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:56133200-56136200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:56133200-56136200	Weak transcription	Left Ventricle	heart
24	chr7:56133200-56136200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:56133200-56136200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:56133200-56136200	Weak transcription	HSMMtube	muscle
27	chr7:56133200-56136400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:56133200-56136400	Weak transcription	Right Ventricle	heart
29	chr7:56133200-56136600	Weak transcription	Brain Substantia Nigra	brain
30	chr7:56133200-56136600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:56133200-56136600	Weak transcription	NH-A	brain
32	chr7:56133200-56138400	Weak transcription	Brain Angular Gyrus	brain
33	chr7:56133200-56138400	Weak transcription	Fetal Kidney	kidney
34	chr7:56133200-56140600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:56133200-56141800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:56133200-56141800	Weak transcription	HepG2	liver
37	chr7:56133200-56142000	Weak transcription	Esophagus	oesophagus
38	chr7:56133200-56142200	Weak transcription	Right Atrium	heart
39	chr7:56133200-56145600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:56133200-56146400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:56133200-56147000	Weak transcription	Fetal Brain Male	brain
42	chr7:56133200-56147000	Weak transcription	Psoas Muscle	Psoas
43	chr7:56133400-56135800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:56133400-56135800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:56133400-56136000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:56133400-56136000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:56133400-56136000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:56133400-56136200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr7:56133400-56136200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr7:56133400-56136200	Weak transcription	Duodenum Mucosa	Duodenum

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