Variant report

Variant	rs12533667
Chromosome Location	chr7:150125010-150125011
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150075262..150076889-chr7:150122544..150125519,2	MCF-7	breast:
2	chr7:150110349..150112176-chr7:150122391..150125906,3	K562	blood:
3	chr7:150101612..150104184-chr7:150124782..150128046,4	K562	blood:
4	chr7:150123774..150125349-chr7:150128366..150131639,3	K562	blood:
5	chr7:150124983..150127260-chr7:150127633..150130251,3	MCF-7	breast:
6	chr7:150014370..150017313-chr7:150124547..150126790,2	K562	blood:

Variant related genes	Relation type
ENSG00000242258	Chromatin interaction
ENSG00000196456	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10231372	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10238456	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10257386	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10271549	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10271666	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10952258	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11760255	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11770221	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12154828	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12533686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12534277	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12534489	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12536327	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538995	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12703064	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12703066	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13237570	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2030680	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34478979	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4725898	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55698450	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58226247	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150104400-150131600	Weak transcription	Right Atrium	heart
2	chr7:150110200-150142200	Weak transcription	Gastric	stomach
3	chr7:150123000-150125600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:150123800-150125800	Enhancers	Dnd41	blood
5	chr7:150124000-150125800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:150124200-150125600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:150124200-150126400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:150124200-150126800	Enhancers	Fetal Thymus	thymus
9	chr7:150124400-150125400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:150124400-150125600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:150124400-150126200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:150124400-150126600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:150124400-150126600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:150124400-150126600	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:150124400-150126800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:150124400-150126800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:150124400-150126800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:150124400-150126800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:150124400-150126800	Enhancers	Thymus	Thymus
20	chr7:150124600-150125200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:150124600-150125800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:150124600-150126200	Bivalent Enhancer	HepG2	liver
23	chr7:150124600-150126600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:150124600-150127800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:150124600-150128600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:150124800-150126600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:150124800-150126600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:150124800-150127800	Enhancers	Spleen	Spleen
29	chr7:150125000-150125200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:150125000-150125400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr7:150125000-150126000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:150125000-150126600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr7:150125000-150126600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr7:150125000-150127200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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