Variant report

Variant	rs7633433
Chromosome Location	chr3:48478036-48478037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:48476777-48478311	HCT-116	colon:	n/a	chr3:48477534-48477552 chr3:48477595-48477611 chr3:48477536-48477549 chr3:48477600-48477609 chr3:48477529-48477550 chr3:48477589-48477610 chr3:48478048-48478056 chr3:48477594-48477612
2	CTCF	chr3:48477900-48478050	HepG2	liver:	n/a	n/a
3	CTCF	chr3:48477940-48478090	NHEK	skin:	n/a	chr3:48478048-48478056
4	CTCF	chr3:48477900-48478050	HCT-116	colon:	n/a	n/a
5	CTCF	chr3:48477960-48478110	HEEpiC	esophagus:	n/a	chr3:48478048-48478056
6	CTCF	chr3:48476516-48478546	SK-N-SH	brain:	n/a	chr3:48477534-48477552 chr3:48477595-48477611 chr3:48477536-48477549 chr3:48477600-48477609 chr3:48477529-48477550 chr3:48477589-48477610 chr3:48478048-48478056 chr3:48476665-48476678 chr3:48477594-48477612
7	CTCF	chr3:48477038-48478065	HCT-116	colon:	n/a	chr3:48477534-48477552 chr3:48477595-48477611 chr3:48477536-48477549 chr3:48477600-48477609 chr3:48477529-48477550 chr3:48477589-48477610 chr3:48478048-48478056 chr3:48477594-48477612
8	SMC3	chr3:48476580-48478152	SK-N-SH	brain:	n/a	chr3:48477596-48477610 chr3:48477603-48477610
9	RAD21	chr3:48476950-48478075	SK-N-SH	brain:	n/a	chr3:48477592-48477611 chr3:48477601-48477610 chr3:48477969-48477982 chr3:48477532-48477551 chr3:48477536-48477550
10	CTCF	chr3:48478000-48478150	GM12875	blood:	n/a	chr3:48478048-48478056
11	STAT5A	chr3:48477296-48478055	GM12878	blood:	n/a	chr3:48477512-48477520 chr3:48477308-48477319 chr3:48477334-48477342
12	CTCF	chr3:48477960-48478110	NHLF	lung:	n/a	chr3:48478048-48478056
13	CTCF	chr3:48477900-48478050	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr3:48477980-48478130	GM12874	blood:	n/a	chr3:48478048-48478056
15	CTCF	chr3:48478020-48478170	BJ	skin:	n/a	chr3:48478048-48478056

No.	Distal block	Cell Line	Cell type
1	chr3:48440516..48442148-chr3:48476570..48479330,2	MCF-7	breast:
2	chr3:48441909..48442996-chr3:48477024..48478037,12	K562	blood:
3	chr3:48282610..48284653-chr3:48477699..48479589,2	MCF-7	breast:
4	chr3:48273868..48274807-chr3:48477063..48478110,7	K562	blood:
5	chr3:48477555..48484761-chr3:48484855..48490000,13	MCF-7	breast:
6	chr3:48468825..48473989-chr3:48477233..48479904,8	MCF-7	breast:
7	chr3:48314376..48316002-chr3:48477111..48478324,17	MCF-7	breast:
8	chr3:48314741..48315936-chr3:48477090..48478069,6	MCF-7	breast:
9	chr3:48313852..48317014-chr3:48476122..48479164,3	MCF-7	breast:
10	chr3:48474379..48479585-chr3:48479599..48482990,10	MCF-7	breast:
11	chr3:48274015..48274591-chr3:48477374..48478083,2	MCF-7	breast:
12	chr3:48475007..48478316-chr3:48592924..48596066,3	K562	blood:
13	chr3:48341701..48342458-chr3:48477147..48478037,2	K562	blood:
14	chr3:48445745..48447570-chr3:48476215..48478631,2	K562	blood:
15	chr3:48314812..48315780-chr3:48476828..48478099,14	K562	blood:
16	chr3:48273743..48274743-chr3:48477196..48478042,4	MCF-7	breast:
17	chr3:48335873..48336439-chr3:48477174..48478074,2	K562	blood:

Variant related genes	Relation type
TMA7	TF binding region
ENSG00000164053	Chromatin interaction
ENSG00000164051	Chromatin interaction
ENSG00000114268	Chromatin interaction
ENSG00000232112	Chromatin interaction
ENSG00000244380	Chromatin interaction
ENSG00000164050	Chromatin interaction
ENSG00000164048	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10780032	1.00[EUR][1000 genomes]
rs11130169	1.00[EUR][1000 genomes]
rs11915428	1.00[EUR][1000 genomes]
rs3731495	1.00[EUR][1000 genomes]
rs3924179	1.00[EUR][1000 genomes]
rs4858818	1.00[EUR][1000 genomes]
rs55782175	1.00[EUR][1000 genomes]
rs58835493	1.00[EUR][1000 genomes]
rs59352296	1.00[EUR][1000 genomes]
rs60352528	1.00[EUR][1000 genomes]
rs6442122	1.00[EUR][1000 genomes]
rs6791777	1.00[EUR][1000 genomes]
rs6793732	1.00[EUR][1000 genomes]
rs6801348	1.00[EUR][1000 genomes]
rs73830466	1.00[EUR][1000 genomes]
rs73830478	1.00[EUR][1000 genomes]
rs73831562	1.00[EUR][1000 genomes]
rs73831565	1.00[EUR][1000 genomes]
rs73831572	1.00[EUR][1000 genomes]
rs73831577	1.00[EUR][1000 genomes]
rs73831579	1.00[EUR][1000 genomes]
rs898226	1.00[EUR][1000 genomes]
rs9852211	1.00[EUR][1000 genomes]
rs9917799	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834683	chr3:48301504-48493261	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv834684	chr3:48385699-48589323	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv590242	chr3:48433635-48556339	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv876761	chr3:48464968-48496758	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48471800-48480800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:48472000-48480600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:48472000-48481000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:48472200-48478600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:48472400-48480200	Weak transcription	Right Atrium	heart
6	chr3:48472400-48480800	Weak transcription	Fetal Brain Male	brain
7	chr3:48474400-48480400	Weak transcription	A549	lung
8	chr3:48475000-48481000	Weak transcription	Brain Angular Gyrus	brain
9	chr3:48475200-48481200	Weak transcription	Left Ventricle	heart
10	chr3:48475400-48478200	Enhancers	HepG2	liver
11	chr3:48475400-48480800	Weak transcription	Brain Anterior Caudate	brain
12	chr3:48475400-48481000	Weak transcription	Brain Germinal Matrix	brain
13	chr3:48476000-48478200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr3:48476000-48480600	Weak transcription	Fetal Lung	lung
15	chr3:48476000-48480800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:48476000-48481000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr3:48476000-48481000	Weak transcription	NH-A	brain
18	chr3:48476000-48481200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:48476000-48481200	Weak transcription	Aorta	Aorta
20	chr3:48476200-48480000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:48476200-48480400	Weak transcription	Liver	Liver
22	chr3:48476200-48480400	Weak transcription	Fetal Brain Female	brain
23	chr3:48476200-48480800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:48476200-48480800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:48476200-48480800	Weak transcription	Adipose Nuclei	Adipose
26	chr3:48476200-48480800	Weak transcription	Fetal Heart	heart
27	chr3:48476200-48480800	Weak transcription	HSMM	muscle
28	chr3:48476200-48481000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:48476200-48481000	Weak transcription	NHDF-Ad	bronchial
30	chr3:48476200-48481000	Weak transcription	Osteobl	bone
31	chr3:48476400-48478200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:48476400-48478800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:48476400-48480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:48476400-48480400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:48476400-48480600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:48476400-48480600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:48476400-48480600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:48476400-48480800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:48476400-48481000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:48476400-48481000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:48476600-48478200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:48476600-48480200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:48476600-48480200	Weak transcription	Right Ventricle	heart
44	chr3:48476600-48480600	Weak transcription	NHLF	lung
45	chr3:48476600-48481200	Weak transcription	Lung	lung
46	chr3:48476800-48480400	Weak transcription	Primary T cells from cord blood	blood
47	chr3:48476800-48480600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:48476800-48480800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr3:48477000-48481000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr3:48477200-48478400	Enhancers	Fetal Thymus	thymus

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