Variant report

Variant	rs138904725
Chromosome Location	chr8:87188189-87188190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr8:87187906-87188768	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr8:87187945-87189484	SK-N-SH	brain:	n/a	n/a
3	FOS	chr8:87187991-87188555	HUVEC	blood vessel:	n/a	n/a
4	GATA3	chr8:87187934-87189005	MCF-7	breast:	n/a	n/a
5	GATA2	chr8:87188090-87188666	HUVEC	blood vessel:	n/a	n/a
6	NR2F2	chr8:87188176-87188812	MCF-7	breast:	n/a	n/a
7	NR2F2	chr8:87188165-87188833	MCF-7	breast:	n/a	n/a
8	GATA3	chr8:87188177-87188715	T-47D	breast:	n/a	n/a
9	TCF12	chr8:87188160-87189499	SK-N-SH	brain:	n/a	n/a
10	PBX3	chr8:87187948-87188766	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr8:87187938-87189502	SK-N-SH	brain:	n/a	n/a
12	SIN3AK20	chr8:87188025-87189412	MCF-7	breast:	n/a	n/a
13	GATA3	chr8:87188078-87188780	MCF-7	breast:	n/a	n/a
14	GATA3	chr8:87188000-87188740	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87186847..87188623-chr8:87190111..87192908,2	MCF-7	breast:
2	chr8:87187097..87192513-chr8:87353340..87357451,6	MCF-7	breast:
3	chr8:87186174..87188770-chr8:87209763..87212500,2	MCF-7	breast:
4	chr8:87177733..87179455-chr8:87185682..87188485,3	MCF-7	breast:
5	chr8:87187644..87190858-chr8:87193352..87196070,3	MCF-7	breast:
6	chr8:87187218..87190589-chr8:87353304..87356196,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253699	TF binding region
ENSG00000253699	Chromatin interaction
ENSG00000254231	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv611674	chr8:87156172-87315920	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1027648	chr8:87161437-87319476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv1815028	chr8:87166396-87205568	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1020485	chr8:87167184-87330873	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1023114	chr8:87167184-87335197	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1033960	chr8:87167790-87334194	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv1016050	chr8:87167790-87335197	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv6290	chr8:87175740-87229808	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1016177	chr8:87177368-87319476	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1023772	chr8:87177368-87334194	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1031874	chr8:87177368-87335197	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv1030401	chr8:87177368-87337260	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1033007	chr8:87185458-87319476	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	esv2761445	chr8:87185470-87335197	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
21	esv3355190	chr8:87186336-87190934	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	esv1807642	chr8:87187050-87193911	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	esv1810589	chr8:87187050-87201127	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	esv1811895	chr8:87187050-87201127	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv465733	chr8:87187050-87302328	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
26	nsv611675	chr8:87187050-87302328	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
27	nsv519507	chr8:87187195-87333968	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
28	esv3479566	chr8:87187823-87194053	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv968536	chr8:87188087-87192770	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
30	esv3479567	chr8:87188119-87193859	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
31	esv3479561	chr8:87188175-87193817	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
32	esv3479562	chr8:87188179-87193861	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87186200-87188400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:87186200-87189200	Enhancers	HepG2	liver
3	chr8:87186600-87188400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:87186800-87188400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:87187000-87189800	Enhancers	Hela-S3	cervix
6	chr8:87187200-87188200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:87187400-87188200	Enhancers	HMEC	breast
8	chr8:87187400-87188400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:87187600-87188200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:87187600-87188200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:87187600-87188200	Enhancers	NHEK	skin
12	chr8:87187600-87189000	Enhancers	Fetal Lung	lung
13	chr8:87187600-87189800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr8:87187800-87188200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:87187800-87188400	Enhancers	HSMM	muscle
16	chr8:87187800-87189400	Enhancers	Osteobl	bone
17	chr8:87187800-87190000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:87188000-87188200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:87188000-87188400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:87188000-87188400	Flanking Active TSS	HSMMtube	muscle
21	chr8:87188000-87188600	Enhancers	Fetal Brain Female	brain
22	chr8:87188000-87189000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:87188000-87189200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:87188000-87189200	Flanking Active TSS	A549	lung
25	chr8:87188000-87189200	Flanking Active TSS	NH-A	brain
26	chr8:87188000-87189400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:87188000-87189400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr8:87188000-87189400	Flanking Active TSS	HUVEC	blood vessel

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