Variant report

Variant	rs7815185
Chromosome Location	chr8:104148455-104148456
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	GATA3	chr8:104148268-104148651	T-47D	breast:	n/a	n/a
2	GATA3	chr8:104148249-104148595	T-47D	breast:	n/a	n/a
3	HDAC2	chr8:104148170-104148722	MCF-7	breast:	n/a	chr8:104148411-104148420 chr8:104148565-104148579 chr8:104148410-104148424 chr8:104148415-104148429
4	NR2F2	chr8:104148180-104148812	MCF-7	breast:	n/a	n/a
5	FOXA1	chr8:104148372-104148553	T-47D	breast:	n/a	chr8:104148408-104148420
6	TEAD4	chr8:104148296-104148717	MCF-7	breast:	n/a	n/a
7	TEAD4	chr8:104148234-104148737	MCF-7	breast:	n/a	n/a
8	TCF12	chr8:104148119-104148840	MCF-7	breast:	n/a	chr8:104148479-104148486
9	ZNF217	chr8:104148218-104148722	MCF-7	breast:	n/a	n/a
10	SIN3AK20	chr8:104148106-104148840	MCF-7	breast:	n/a	n/a
11	FOXA1	chr8:104148263-104148551	T-47D	breast:	n/a	chr8:104148408-104148420
12	CEBPB	chr8:104148218-104148728	MCF-7	breast:	n/a	n/a
13	GATA3	chr8:104148307-104148568	MCF-7	breast:	n/a	n/a
14	GATA3	chr8:104148093-104148820	MCF-7	breast:	n/a	n/a
15	CEBPB	chr8:104148129-104148708	MCF-7	breast:	n/a	chr8:104148137-104148148
16	NR2F2	chr8:104148158-104148686	MCF-7	breast:	n/a	n/a
17	GATA3	chr8:104148312-104148760	MCF-7	breast:	n/a	n/a
18	HDAC2	chr8:104148230-104148739	MCF-7	breast:	n/a	chr8:104148411-104148420 chr8:104148565-104148579 chr8:104148410-104148424 chr8:104148415-104148429
19	SIN3AK20	chr8:104147983-104148945	MCF-7	breast:	n/a	n/a
20	EP300	chr8:104148286-104148767	MCF-7	breast:	n/a	chr8:104148403-104148411 chr8:104148316-104148325
21	TCF12	chr8:104148011-104149033	MCF-7	breast:	n/a	chr8:104148479-104148486
22	TCF7L2	chr8:104148178-104148617	MCF-7	breast:	n/a	n/a
23	GATA3	chr8:104148032-104148899	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:104121135..104121844-chr8:104148279..104149267,2	MCF-7	breast:
2	chr8:104144119..104147057-chr8:104147577..104149129,2	K562	blood:
3	chr8:104147375..104149693-chr8:104309973..104312431,2	MCF-7	breast:

Variant related genes	Relation type
BAALC	TF binding region
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6995724	0.87[AFR][1000 genomes]
rs7843955	0.90[AFR][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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104145000-104149400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:104145600-104148600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:104145600-104148800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:104145600-104148800	Weak transcription	Osteobl	bone
5	chr8:104146000-104148600	Weak transcription	Ovary	ovary
6	chr8:104146200-104149000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:104146400-104149400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:104146800-104148600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:104146800-104152000	Weak transcription	Fetal Brain Male	brain
10	chr8:104146800-104152600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:104147000-104149000	Weak transcription	Brain Angular Gyrus	brain
12	chr8:104147000-104149000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:104147000-104149200	Weak transcription	Brain Substantia Nigra	brain
14	chr8:104147000-104150800	Weak transcription	Brain Anterior Caudate	brain
15	chr8:104147200-104149000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:104147200-104149200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:104147200-104149400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:104147200-104149800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:104147200-104150400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:104147200-104150400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:104147800-104150000	Enhancers	Liver	Liver
22	chr8:104148200-104149200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:104148400-104148600	Enhancers	Aorta	Aorta
24	chr8:104148400-104152200	Enhancers	Brain Hippocampus Middle	brain

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