Variant report

Variant	rs12703063
Chromosome Location	chr7:150124868-150124869
allele	C/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	chr7:150014370..150017313-chr7:150124547..150126790,2	K562	blood:

Variant related genes	Relation type
ENSG00000196456	Chromatin interaction
ENSG00000242258	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10952256	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333724	1.00[ASN][1000 genomes]
rs1524335	1.00[ASN][1000 genomes]
rs1880315	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996981	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030681	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030682	1.00[ASN][1000 genomes]
rs2888634	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725899	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944824	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960284	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6960822	1.00[ASN][1000 genomes]
rs6962146	1.00[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150104400-150131600	Weak transcription	Right Atrium	heart
2	chr7:150108400-150125000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:150110200-150142200	Weak transcription	Gastric	stomach
4	chr7:150123000-150125600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:150123800-150125800	Enhancers	Dnd41	blood
6	chr7:150124000-150125800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:150124200-150125600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:150124200-150126400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:150124200-150126800	Enhancers	Fetal Thymus	thymus
10	chr7:150124400-150125000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:150124400-150125400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:150124400-150125600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:150124400-150126200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:150124400-150126600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr7:150124400-150126600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:150124400-150126600	Enhancers	Primary hematopoietic stem cells	blood
17	chr7:150124400-150126800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:150124400-150126800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:150124400-150126800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:150124400-150126800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:150124400-150126800	Enhancers	Thymus	Thymus
22	chr7:150124600-150125200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:150124600-150125800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:150124600-150126200	Bivalent Enhancer	HepG2	liver
25	chr7:150124600-150126600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:150124600-150127800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:150124600-150128600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:150124800-150126600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:150124800-150126600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:150124800-150127800	Enhancers	Spleen	Spleen

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