Variant report

Variant	rs10255265
Chromosome Location	chr7:19150648-19150649
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	TAF1	chr7:19150620-19150951	SK-N-SH	brain:	n/a	n/a
2	SIN3AK20	chr7:19149882-19152778	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr7:19143470-19162161	SK-N-SH	brain:	n/a	chr7:19158827-19158836 chr7:19158829-19158838 chr7:19158827-19158836
4	POLR2A	chr7:19145868-19155074	SK-N-SH	brain:	n/a	n/a
5	JUND	chr7:19149723-19152829	SK-N-SH	brain:	n/a	n/a
6	USF1	chr7:19150295-19150756	SK-N-SH	brain:	n/a	chr7:19150530-19150539 chr7:19150527-19150540 chr7:19150529-19150538
7	GATA2	chr7:19149896-19150859	SH-SY5Y	brain:	n/a	chr7:19150113-19150129 chr7:19150116-19150126 chr7:19150118-19150135 chr7:19150113-19150129
8	TEAD4	chr7:19149307-19150722	SK-N-SH	brain:	n/a	n/a
9	USF1	chr7:19150403-19150674	SK-N-SH_RA	brain:	n/a	chr7:19150530-19150539 chr7:19150527-19150540 chr7:19150529-19150538
10	USF1	chr7:19150339-19150715	H1-hESC	embryonic stem cell:	n/a	chr7:19150530-19150539 chr7:19150527-19150540 chr7:19150529-19150538
11	TCF12	chr7:19150388-19150988	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:19149544-19152965	SK-N-MC	brain:	n/a	n/a
13	PBX3	chr7:19149705-19150885	SK-N-SH	brain:	n/a	n/a
14	SUZ12	chr7:19149944-19151117	H1-hESC	embryonic stem cell:	n/a	n/a
15	REST	chr7:19150418-19150802	SK-N-SH	brain:	n/a	chr7:19150698-19150711
16	POLR2A	chr7:19150402-19150976	ProgFib	skin:	n/a	n/a
17	PBX3	chr7:19149810-19150903	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr7:19145762-19152987	SK-N-SH	brain:	n/a	chr7:19146332-19146340 chr7:19150113-19150129 chr7:19150116-19150126 chr7:19150118-19150135 chr7:19151263-19151273 chr7:19146793-19146805 chr7:19146491-19146500 chr7:19150113-19150129
19	POLR2A	chr7:19144858-19156661	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr7:19149560-19153309	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr7:19148578-19157399	H1-neurons	neurons:	n/a	n/a
22	CTBP2	chr7:19149965-19150851	H1-hESC	embryonic stem cell:	n/a	n/a
23	USF1	chr7:19150361-19150664	SK-N-SH_RA	brain:	n/a	chr7:19150530-19150539 chr7:19150527-19150540 chr7:19150529-19150538
24	SUZ12	chr7:19150034-19153042	NT2-D1	testis:	n/a	n/a
25	POLR2A	chr7:19149438-19152762	SK-N-MC	brain:	n/a	n/a
26	NFIC	chr7:19150457-19152900	SK-N-SH	brain:	n/a	n/a
27	EP300	chr7:19150382-19150811	SK-N-SH_RA	brain:	n/a	chr7:19150408-19150422
28	TCF12	chr7:19145759-19152939	SK-N-SH	brain:	n/a	chr7:19146963-19146970 chr7:19146354-19146364 chr7:19150097-19150105 chr7:19145966-19145973

Variant related genes	Relation type
ENSG00000232821	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10252740	1.00[AMR][1000 genomes]
rs10266061	1.00[AMR][1000 genomes]
rs10273207	1.00[AMR][1000 genomes]
rs10273251	1.00[AMR][1000 genomes]
rs10276514	1.00[AMR][1000 genomes]
rs10279824	1.00[AMR][1000 genomes]
rs28483227	1.00[AMR][1000 genomes]
rs60334104	1.00[AMR][1000 genomes]
rs73684661	1.00[AMR][1000 genomes]
rs7792183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7795891	1.00[AFR][1000 genomes];1.00[AMR][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	nsv531020	chr7:18971153-19261019	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv532096	chr7:19094324-19361216	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv532097	chr7:19105767-19302951	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538767	chr7:19150355-19163170	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1028132	chr7:19150355-19172107	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv538768	chr7:19150355-19172107	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr7:19148200-19151600	Weak transcription	HSMM	muscle
2	chr7:19148200-19154800	Weak transcription	HSMMtube	muscle
3	chr7:19148400-19152000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:19148400-19155600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:19148600-19150800	Weak transcription	Osteobl	bone
6	chr7:19148600-19151200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:19148600-19152600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:19149000-19151800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr7:19149000-19152000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr7:19149000-19152200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:19149200-19150800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:19150000-19151200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
13	chr7:19150000-19152000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chr7:19150000-19152000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:19150200-19151000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:19150400-19150800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:19150400-19151000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:19150400-19151200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr7:19150600-19150800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr7:19150600-19150800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr7:19150600-19150800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
22	chr7:19150600-19150800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:19150600-19150800	Enhancers	Adipose Nuclei	Adipose
24	chr7:19150600-19150800	Enhancers	Aorta	Aorta
25	chr7:19150600-19150800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr7:19150600-19150800	Flanking Active TSS	NHDF-Ad	bronchial
27	chr7:19150600-19151400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:19150600-19151400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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