Variant report

Variant	rs73683755
Chromosome Location	chr8:69767142-69767143
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	MAX	chr8:69766273-69767185	MCF-7	breast:	n/a	n/a
2	ESR1	chr8:69765313-69767175	T-47D	breast:	n/a	chr8:69766861-69766878
3	SIN3AK20	chr8:69766244-69767278	MCF-7	breast:	n/a	n/a
4	EP300	chr8:69765250-69767159	T-47D	breast:	n/a	chr8:69765898-69765911 chr8:69765485-69765499 chr8:69765487-69765501 chr8:69767010-69767024 chr8:69765490-69765504
5	JUND	chr8:69766389-69767243	MCF-7	breast:	n/a	chr8:69766804-69766816 chr8:69766452-69766461
6	EP300	chr8:69765294-69767235	MCF-7	breast:	n/a	chr8:69765898-69765911 chr8:69765485-69765499 chr8:69765487-69765501 chr8:69767010-69767024 chr8:69765490-69765504
7	TCF12	chr8:69765084-69767177	MCF-7	breast:	n/a	chr8:69766924-69766933 chr8:69766908-69766917
8	TEAD4	chr8:69766333-69767157	MCF-7	breast:	n/a	n/a
9	JUND	chr8:69766395-69767185	MCF-7	breast:	n/a	chr8:69766804-69766816 chr8:69766452-69766461
10	ESR1	chr8:69765239-69767250	T-47D	breast:	n/a	chr8:69766861-69766878
11	ESR1	chr8:69765440-69767187	T-47D	breast:	n/a	chr8:69766861-69766878
12	TEAD4	chr8:69766398-69767205	MCF-7	breast:	n/a	n/a
13	JUND	chr8:69765216-69767243	T-47D	breast:	n/a	chr8:69766804-69766816 chr8:69766452-69766461
14	POLR2A	chr8:69761218-69767153	SK-N-SH	brain:	n/a	n/a
15	ESR1	chr8:69765362-69767199	T-47D	breast:	n/a	chr8:69766861-69766878
16	JUND	chr8:69765346-69767280	T-47D	breast:	n/a	chr8:69766804-69766816 chr8:69766452-69766461
17	FOSL2	chr8:69766569-69767211	MCF-7	breast:	n/a	chr8:69766804-69766816
18	FOXM1	chr8:69765074-69767280	MCF-7	breast:	n/a	n/a
19	FOXA1	chr8:69765383-69767219	T-47D	breast:	n/a	chr8:69766919-69766934
20	RAD21	chr8:69765496-69767257	MCF-7	breast:	n/a	chr8:69766506-69766525
21	RAD21	chr8:69766215-69767223	MCF-7	breast:	n/a	chr8:69766506-69766525
22	GATA3	chr8:69764929-69767445	MCF-7	breast:	n/a	chr8:69765513-69765523 chr8:69765508-69765529 chr8:69765515-69765522 chr8:69765515-69765522 chr8:69765515-69765522 chr8:69765504-69765521 chr8:69765510-69765526
23	NR2F2	chr8:69766372-69767260	MCF-7	breast:	n/a	n/a
24	NR2F2	chr8:69766222-69767200	MCF-7	breast:	n/a	n/a
25	HDAC2	chr8:69766349-69767156	MCF-7	breast:	n/a	chr8:69766908-69766917
26	FOSL2	chr8:69766399-69767161	MCF-7	breast:	n/a	chr8:69766804-69766816 chr8:69766452-69766461
27	GATA3	chr8:69765334-69767180	T-47D	breast:	n/a	chr8:69765513-69765523 chr8:69765508-69765529 chr8:69765515-69765522 chr8:69765515-69765522 chr8:69765515-69765522 chr8:69765504-69765521 chr8:69765510-69765526
28	GATA3	chr8:69764960-69767271	MCF-7	breast:	n/a	chr8:69765513-69765523 chr8:69765508-69765529 chr8:69765515-69765522 chr8:69765515-69765522 chr8:69765515-69765522 chr8:69765504-69765521 chr8:69765510-69765526
29	CEBPB	chr8:69766289-69767225	MCF-7	breast:	n/a	n/a
30	SIN3AK20	chr8:69764944-69767180	MCF-7	breast:	n/a	n/a
31	FOXM1	chr8:69766243-69767214	MCF-7	breast:	n/a	n/a
32	CEBPB	chr8:69766339-69767360	MCF-7	breast:	n/a	n/a
33	TCF12	chr8:69766339-69767344	MCF-7	breast:	n/a	chr8:69766924-69766933 chr8:69766908-69766917
34	POLR2A	chr8:69765547-69767225	SK-N-SH	brain:	n/a	n/a
35	ESR1	chr8:69765454-69767155	T-47D	breast:	n/a	chr8:69766861-69766878
36	ZNF217	chr8:69765368-69767151	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:69766643..69767279-chr8:69937797..69938436,4	MCF-7	breast:
2	chr8:69740378..69741193-chr8:69766698..69767308,2	MCF-7	breast:
3	chr8:69766397..69768626-chr8:69981914..69983508,2	MCF-7	breast:
4	chr8:69765041..69767952-chr8:69838126..69840398,3	MCF-7	breast:
5	chr8:69766422..69767301-chr8:70023556..70024512,9	MCF-7	breast:
6	chr8:69766369..69767301-chr8:70023597..70024512,9	MCF-7	breast:
7	chr8:69765926..69767722-chr8:70531531..70533883,3	MCF-7	breast:
8	chr8:69765117..69767304-chr8:69979220..69980795,2	MCF-7	breast:
9	chr8:69765448..69769118-chr8:69936665..69941458,7	MCF-7	breast:
10	chr8:69765354..69768313-chr8:70403823..70406098,3	MCF-7	breast:
11	chr8:69766578..69767279-chr8:69937764..69938297,2	MCF-7	breast:
12	chr8:69766996..69770289-chr8:69772994..69775447,3	MCF-7	breast:
13	chr8:69766557..69767484-chr8:69984843..69985678,2	MCF-7	breast:
14	chr8:69765987..69767833-chr8:69983718..69985913,2	MCF-7	breast:
15	chr8:68292865..68293515-chr8:69766457..69767353,3	MCF-7	breast:
16	chr8:69765279..69767479-chr8:70175959..70178236,2	MCF-7	breast:
17	chr8:69762198..69770207-chr8:70021083..70026192,14	MCF-7	breast:
18	chr8:69766511..69767277-chr8:70023631..70024260,3	MCF-7	breast:
19	chr8:69766441..69769103-chr8:69782417..69786375,4	MCF-7	breast:
20	chr8:69766547..69767337-chr8:69937588..69938663,4	MCF-7	breast:
21	chr8:69766391..69767381-chr8:70023551..70024464,7	MCF-7	breast:
22	chr8:69765869..69767143-chr8:69958070..69958747,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254337	TF binding region
ENSG00000137573	Chromatin interaction
ENSG00000238808	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55914427	1.00[AFR][1000 genomes]
rs56350065	1.00[AFR][1000 genomes]
rs57331149	1.00[AFR][1000 genomes]
rs58281208	1.00[AFR][1000 genomes]
rs60314331	1.00[AFR][1000 genomes]
rs73683739	1.00[AFR][1000 genomes]
rs73683741	1.00[AFR][1000 genomes]
rs73683750	1.00[AFR][1000 genomes]
rs73683754	1.00[AFR][1000 genomes]
rs73683792	1.00[AFR][1000 genomes]
rs73683794	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465703	chr8:69641287-69814578	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv611462	chr8:69641287-69814578	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1017131	chr8:69676989-69792515	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1031642	chr8:69728620-69814849	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1033122	chr8:69728620-69843088	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1018791	chr8:69729491-69814849	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv470214	chr8:69745066-69814577	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv465704	chr8:69745066-69814578	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv611463	chr8:69745066-69814578	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1031633	chr8:69766575-70322790	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69756200-69776000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:69763000-69778600	Weak transcription	Aorta	Aorta
3	chr8:69765000-69767400	Enhancers	Osteobl	bone
4	chr8:69767000-69771200	Weak transcription	NHDF-Ad	bronchial
5	chr8:69767000-69771600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:69767000-69771800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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