Variant report

Variant	rs7795891
Chromosome Location	chr7:19150212-19150213
allele	C/G
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	SIN3AK20	chr7:19149882-19152778	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr7:19143470-19162161	SK-N-SH	brain:	n/a	chr7:19158827-19158836 chr7:19158829-19158838 chr7:19158827-19158836
3	POLR2A	chr7:19145868-19155074	SK-N-SH	brain:	n/a	n/a
4	JUND	chr7:19149723-19152829	SK-N-SH	brain:	n/a	n/a
5	GATA2	chr7:19149896-19150859	SH-SY5Y	brain:	n/a	chr7:19150113-19150129 chr7:19150116-19150126 chr7:19150118-19150135 chr7:19150113-19150129
6	TEAD4	chr7:19149307-19150722	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr7:19149544-19152965	SK-N-MC	brain:	n/a	n/a
8	PBX3	chr7:19149705-19150885	SK-N-SH	brain:	n/a	n/a
9	SP1	chr7:19149662-19150398	H1-hESC	embryonic stem cell:	n/a	n/a
10	SUZ12	chr7:19149944-19151117	H1-hESC	embryonic stem cell:	n/a	n/a
11	PBX3	chr7:19149810-19150903	SK-N-SH	brain:	n/a	n/a
12	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
13	POLR2A	chr7:19144858-19156661	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr7:19149560-19153309	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr7:19148578-19157399	H1-neurons	neurons:	n/a	n/a
16	CTBP2	chr7:19149965-19150851	H1-hESC	embryonic stem cell:	n/a	n/a
17	SUZ12	chr7:19150034-19153042	NT2-D1	testis:	n/a	n/a
18	POLR2A	chr7:19149438-19152762	SK-N-MC	brain:	n/a	n/a
19	TCF12	chr7:19145759-19152939	SK-N-SH	brain:	n/a	chr7:19146963-19146970 chr7:19146354-19146364 chr7:19150097-19150105 chr7:19145966-19145973

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:19150174-19150224	MCF10A-Er-Src	breast:	n/a
2	chr7:19150174-19150224	HMEC	breast:	n/a
3	chr7:19150174-19150224	K562	blood:	n/a
4	chr7:19150174-19150224	AG09319	gingival:	n/a
5	chr7:19150174-19150224	RPTEC	kidney:	n/a
6	chr7:19150174-19150224	HRCEpiC	kidney:	n/a
7	chr7:19150174-19150224	HRPEpiC	eye:	n/a
8	chr7:19150174-19150224	HEEpiC	esophagus:	n/a
9	chr7:19150174-19150224	CMK	blood:	n/a
10	chr7:19150174-19150224	NHBE	bronchial:	n/a
11	chr7:19150174-19150224	GM12892	blood:	n/a
12	chr7:19150174-19150224	AG10803	skin:	n/a
13	chr7:19150174-19150224	GM19239	blood:	n/a
14	chr7:19150174-19150224	GM12891	blood:	n/a
15	chr7:19150174-19150224	Caco-2	colon:	n/a
16	chr7:19150174-19150224	SK-N-SH	brain:	n/a
17	chr7:19150174-19150224	PrEC	prostate:	n/a
18	chr7:19150174-19150224	SKMC	muscle:	n/a
19	chr7:19150174-19150224	U87	brain:	n/a
20	chr7:19150174-19150224	HIPEpiC	eye:	n/a
21	chr7:19150174-19150224	BE2_C	brain:	n/a
22	chr7:19150174-19150224	HRE	kidney:	n/a
23	chr7:19150174-19150224	GM06990	blood:	n/a
24	chr7:19150174-19150224	MCF-7	breast:	n/a
25	chr7:19150174-19150224	NT2-D1	testis:	n/a
26	chr7:19150174-19150224	PANC-1	pancreas:	n/a
27	chr7:19150174-19150224	HCF	heart:	n/a
28	chr7:19150174-19150224	AG04449	skin:	fetal
29	chr7:19150174-19150224	Hela-S3	cervix:	n/a
30	chr7:19150174-19150224	GM12878	blood:	n/a
31	chr7:19150174-19150224	T-47D	breast:	n/a
32	chr7:19150174-19150224	HPAEpiC	pulmonary alveolar:	n/a
33	chr7:19150174-19150224	Hepatocyte	liver:	n/a
34	chr7:19150174-19150224	HCPEpiC	choroid plexus:	n/a
35	chr7:19150174-19150224	IMR90	lung:	fetal
36	chr7:19150174-19150224	PFSK-1	brain:	n/a
37	chr7:19150174-19150224	ProgFib	skin:	n/a
38	chr7:19150174-19150224	HL-60	blood:	n/a
39	chr7:19150174-19150224	Jurkat	blood:	n/a
40	chr7:19150174-19150224	NH-A	brain:	n/a
41	chr7:19150174-19150224	HCT-116	colon:	n/a
42	chr7:19150174-19150224	HNPCEpiC	eye:	n/a
43	chr7:19150174-19150224	NHDF-neo	bronchial:	n/a
44	chr7:19150174-19150224	AoSMC	blood vessel:	n/a
45	chr7:19150174-19150224	HCM	heart:	n/a
46	chr7:19150174-19150224	SK-N-MC	brain:	n/a
47	chr7:19150174-19150224	HepG2	liver:	n/a
48	chr7:19150174-19150224	HEK293	kidney:	embryo
49	chr7:19150174-19150224	ECC-1	luminal epithelium:	n/a
50	chr7:19150174-19150224	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:19143844..19146575-chr7:19148406..19150514,2	K562	blood:

Variant related genes	Relation type
ENSG00000232821	TF binding region
ENSG00000232821	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10252740	1.00[AMR][1000 genomes]
rs10255265	1.00[AFR][1000 genomes];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]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:27 , 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	chr7:19148400-19150600	Weak transcription	Aorta	Aorta
4	chr7:19148400-19152000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:19148400-19155600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:19148600-19150800	Weak transcription	Osteobl	bone
7	chr7:19148600-19151200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:19148600-19152600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:19148800-19150400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:19149000-19150600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:19149000-19151800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr7:19149000-19152000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr7:19149000-19152200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:19149200-19150600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:19149200-19150800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:19149800-19150400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr7:19150000-19150400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr7:19150000-19150400	Enhancers	Adipose Nuclei	Adipose
19	chr7:19150000-19150400	Flanking Active TSS	NHDF-Ad	bronchial
20	chr7:19150000-19150600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr7:19150000-19151200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
22	chr7:19150000-19152000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
23	chr7:19150000-19152000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:19150200-19150400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
25	chr7:19150200-19150600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:19150200-19150600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
27	chr7:19150200-19151000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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