Variant report

Variant	rs55910643
Chromosome Location	chr7:120724335-120724336
allele	A/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	TCF12	chr7:120723773-120725585	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:120723060-120727184	K562	blood:	n/a	n/a
3	PML	chr7:120718354-120726378	K562	blood:	n/a	chr7:120719627-120719635 chr7:120725652-120725660 chr7:120724224-120724233 chr7:120723324-120723333
4	POLR2A	chr7:120723985-120724373	SK-N-SH	brain:	n/a	n/a
5	TEAD4	chr7:120724036-120725421	SK-N-SH	brain:	n/a	n/a
6	CEBPB	chr7:120724108-120725329	IMR90	lung:	n/a	n/a
7	JUN	chr7:120724331-120724335	HepG2	liver:	n/a	n/a
8	TCF12	chr7:120723920-120725652	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr7:120724302-120724887	K562	blood:	n/a	n/a
10	FOSL2	chr7:120723890-120724491	SK-N-SH	brain:	n/a	chr7:120724224-120724231 chr7:120724223-120724231 chr7:120724223-120724231 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724084-120724095
11	FOS	chr7:120724074-120724435	MCF10A-Er-Src	breast:	n/a	chr7:120724224-120724231 chr7:120724223-120724231 chr7:120724223-120724231 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724084-120724095
12	POLR2A	chr7:120717974-120727688	K562	blood:	n/a	n/a
13	POLR2A	chr7:120722969-120726383	K562	blood:	n/a	n/a
14	POLR2A	chr7:120716166-120738240	K562	blood:	n/a	n/a
15	MAFK	chr7:120723209-120724370	IMR90	lung:	n/a	chr7:120724221-120724231 chr7:120724219-120724235 chr7:120723324-120723334 chr7:120723324-120723333 chr7:120724224-120724233
16	EP300	chr7:120723081-120725489	SK-N-SH	brain:	n/a	chr7:120724222-120724231
17	EP300	chr7:120723981-120725466	SK-N-SH	brain:	n/a	chr7:120724222-120724231
18	GATA3	chr7:120723833-120725453	SK-N-SH	brain:	n/a	n/a
19	FOS	chr7:120724030-120725197	MCF10A-Er-Src	breast:	n/a	chr7:120724224-120724231 chr7:120724223-120724231 chr7:120724223-120724231 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724084-120724095
20	FOS	chr7:120724026-120725222	MCF10A-Er-Src	breast:	n/a	chr7:120724224-120724231 chr7:120724223-120724231 chr7:120724223-120724231 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724084-120724095
21	TEAD4	chr7:120723902-120725364	SK-N-SH	brain:	n/a	n/a
22	PBX3	chr7:120723920-120725483	SK-N-SH	brain:	n/a	n/a
23	FOS	chr7:120724074-120724370	MCF10A-Er-Src	breast:	n/a	chr7:120724224-120724231 chr7:120724223-120724231 chr7:120724223-120724231 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724084-120724095
24	CEBPB	chr7:120724134-120725314	Hela-S3	cervix:	n/a	n/a
25	FOS	chr7:120723033-120725269	HUVEC	blood vessel:	n/a	chr7:120724224-120724231 chr7:120724223-120724231 chr7:120724223-120724231 chr7:120724222-120724232 chr7:120723324-120723335 chr7:120723326-120723334 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120723626-120723638 chr7:120724222-120724232 chr7:120724084-120724095
26	FOSL2	chr7:120724063-120724351	SK-N-SH	brain:	n/a	chr7:120724224-120724231 chr7:120724223-120724231 chr7:120724223-120724231 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724084-120724095
27	JUND	chr7:120723709-120725566	SK-N-SH	brain:	n/a	chr7:120724224-120724231 chr7:120724223-120724231 chr7:120724223-120724231 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724222-120724232 chr7:120724084-120724095
28	TEAD4	chr7:120722944-120724396	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:120624020..120645873-chr7:120713358..120727138,77	K562	blood:
2	chr7:120589600..120593889-chr7:120719099..120726294,8	K562	blood:
3	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
4	chr2:38977053..38978639-chr7:120723003..120724994,2	K562	blood:
5	chr7:120589475..120592677-chr7:120719093..120725846,11	K562	blood:
6	chr7:120701678..120704158-chr7:120722578..120725881,3	K562	blood:

Variant related genes	Relation type
RNA5SP241	TF binding region
ENSG00000202225	Chromatin interaction
ENSG00000071243	Chromatin interaction
ENSG00000106034	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10215164	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10261386	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11977465	0.89[EUR][1000 genomes]
rs17143147	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17143161	0.88[EUR][1000 genomes]
rs17536644	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1917112	0.90[EUR][1000 genomes]
rs7786867	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv889118	chr7:120683751-120800837	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv889119	chr7:120688463-120800837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv889120	chr7:120691417-120800837	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120708200-120725200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:120715800-120725000	Weak transcription	Fetal Stomach	stomach
4	chr7:120719800-120724600	Weak transcription	Fetal Heart	heart
5	chr7:120720000-120724800	Weak transcription	Aorta	Aorta
6	chr7:120720800-120725000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr7:120721200-120724400	Enhancers	HMEC	breast
8	chr7:120721600-120726200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:120722000-120724400	Weak transcription	Adipose Nuclei	Adipose
10	chr7:120722000-120724600	Weak transcription	Liver	Liver
11	chr7:120722800-120724800	Enhancers	Colon Smooth Muscle	Colon
12	chr7:120722800-120726200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:120722800-120726800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:120722800-120727400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:120723000-120724800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr7:120723000-120724800	Flanking Active TSS	HSMMtube	muscle
17	chr7:120723000-120725000	Enhancers	Hela-S3	cervix
18	chr7:120723000-120725400	Enhancers	HUVEC	blood vessel
19	chr7:120723000-120726800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:120723200-120725400	Flanking Active TSS	NH-A	brain
21	chr7:120723200-120727000	Enhancers	Rectal Smooth Muscle	rectum
22	chr7:120723600-120724800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:120723800-120724400	Enhancers	Osteobl	bone
24	chr7:120724000-120724400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:120724000-120724400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:120724000-120724400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:120724000-120724400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:120724000-120724400	Enhancers	NHEK	skin
29	chr7:120724000-120724600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr7:120724000-120724600	Enhancers	NHDF-Ad	bronchial
31	chr7:120724000-120724800	Weak transcription	Ovary	ovary
32	chr7:120724000-120724800	Weak transcription	Right Ventricle	heart
33	chr7:120724000-120725000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:120724000-120725000	Weak transcription	Left Ventricle	heart
35	chr7:120724000-120725000	Weak transcription	Psoas Muscle	Psoas
36	chr7:120724000-120725000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr7:120724000-120725200	Enhancers	HSMM	muscle
38	chr7:120724000-120725200	Enhancers	NHLF	lung
39	chr7:120724000-120731200	Genic enhancers	K562	blood
40	chr7:120724200-120724400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:120724200-120724400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:120724200-120724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:120724200-120724600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:120724200-120726200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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