Variant report

Variant	rs574141454
Chromosome Location	chr8:95960905-95960906
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	ZNF143	chr8:95960779-95960969	GM12878	blood:	n/a	n/a
2	MAZ	chr8:95960273-95963047	IMR90	lung:	n/a	chr8:95960758-95960768 chr8:95961728-95961739
3	MAX	chr8:95960731-95961186	ECC-1	luminal epithelium:	n/a	chr8:95960758-95960768
4	MAX	chr8:95960723-95961059	HepG2	liver:	n/a	chr8:95960758-95960768
5	TCF12	chr8:95960270-95962400	MCF-7	breast:	n/a	n/a
6	MAZ	chr8:95960453-95961107	GM12878	blood:	n/a	chr8:95960758-95960768
7	NR2F2	chr8:95960175-95961280	MCF-7	breast:	n/a	n/a
8	TAF1	chr8:95960586-95961184	ECC-1	luminal epithelium:	n/a	n/a
9	TAF1	chr8:95960645-95961084	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr8:95960733-95962733	GM12892	blood:	n/a	n/a
11	ZNF263	chr8:95960621-95961245	HEK293-T-REx	kidney:	n/a	chr8:95961059-95961068
12	POLR2A	chr8:95960650-95962297	ProgFib	skin:	n/a	n/a
13	CCNT2	chr8:95960684-95962473	K562	blood:	n/a	chr8:95962064-95962073 chr8:95961866-95961875
14	MAX	chr8:95960439-95961102	MCF-7	breast:	n/a	chr8:95960758-95960768
15	POLR2A	chr8:95960643-95962469	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:95960608-95963004	GM18505	blood:	n/a	n/a
17	TBP	chr8:95960678-95961077	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3AK20	chr8:95959807-95963057	MCF-7	breast:	n/a	n/a
19	SIN3AK20	chr8:95960727-95962055	PANC-1	pancreas:	n/a	n/a
20	MAX	chr8:95960753-95960953	GM12878	blood:	n/a	chr8:95960758-95960768
21	CHD1	chr8:95960743-95960968	H1-hESC	embryonic stem cell:	n/a	n/a
22	EBF1	chr8:95960870-95960984	GM12878	blood:	n/a	n/a
23	ZEB1	chr8:95960586-95960963	GM12878	blood:	n/a	chr8:95960690-95960702
24	NR2F2	chr8:95960457-95961077	MCF-7	breast:	n/a	n/a
25	POLR2A	chr8:95960684-95962608	GM15510	blood:	n/a	n/a
26	GATA3	chr8:95960392-95961110	MCF-7	breast:	n/a	n/a
27	POLR2A	chr8:95960736-95960965	Hela-S3	cervix:	n/a	n/a
28	ZNF143	chr8:95960700-95961079	H1-hESC	embryonic stem cell:	n/a	chr8:95960761-95960771
29	UBTF	chr8:95960667-95962495	K562	blood:	n/a	n/a
30	ELF1	chr8:95960605-95961048	GM12878	blood:	n/a	chr8:95960761-95960773
31	POLR2A	chr8:95960811-95960953	Gliobla	brain:	n/a	n/a
32	HA-E2F1	chr8:95960456-95961031	MCF-7	breast:	n/a	n/a
33	MAZ	chr8:95960619-95961202	K562	blood:	n/a	chr8:95960758-95960768
34	POLR2A	chr8:95960485-95961192	H1-neurons	neurons:	n/a	n/a
35	HMGN3	chr8:95960697-95962495	K562	blood:	n/a	n/a
36	SIN3A	chr8:95960615-95962861	H1-hESC	embryonic stem cell:	n/a	chr8:95961088-95961101 chr8:95961793-95961802
37	RCOR1	chr8:95960651-95961077	K562	blood:	n/a	n/a
38	POLR2A	chr8:95960471-95961265	GM12878	blood:	n/a	n/a
39	UBTF	chr8:95960790-95961118	K562	blood:	n/a	n/a
40	POLR2A	chr8:95960297-95961156	HepG2	liver:	n/a	n/a
41	ZBTB7A	chr8:95960747-95961248	ECC-1	luminal epithelium:	n/a	chr8:95960946-95960953
42	POLR2A	chr8:95960891-95960959	K562	blood:	n/a	n/a
43	POLR2A	chr8:95960691-95960990	HCT-116	colon:	n/a	n/a
44	POLR2A	chr8:95960821-95962515	GM18526	blood:	n/a	n/a
45	POLR2A	chr8:95960353-95962964	GM12878	blood:	n/a	n/a
46	POLR2A	chr8:95960724-95962872	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr8:95960561-95961256	GM12878	blood:	n/a	n/a
48	POLR2A	chr8:95960562-95961003	GM12892	blood:	n/a	n/a
49	MXI1	chr8:95960516-95961139	HepG2	liver:	n/a	n/a
50	MAX	chr8:95960719-95961180	H1-hESC	embryonic stem cell:	n/a	chr8:95960758-95960768

No.	Distal block	Cell Line	Cell type
1	chr8:95918169..95919782-chr8:95960752..95962481,2	MCF-7	breast:
2	chr8:95960086..95962162-chr8:96280907..96282894,2	MCF-7	breast:
3	chr8:95959150..95962570-chr8:95985356..95988577,4	MCF-7	breast:
4	chr8:95960008..95964622-chr8:95970124..95974538,6	MCF-7	breast:
5	chr8:95958416..95961526-chr8:96166017..96168571,3	MCF-7	breast:
6	chr8:95905045..95910108-chr8:95959761..95963234,8	MCF-7	breast:
7	chr8:95956652..95964127-chr8:96035798..96039465,14	MCF-7	breast:
8	chr8:95959784..95963292-chr8:96036254..96039616,3	K562	blood:
9	chr8:95905670..95907596-chr8:95958575..95960918,2	K562	blood:
10	chr8:95959680..95964310-chr8:96036583..96039456,6	MCF-7	breast:
11	chr8:95913634..95919106-chr8:95960002..95963177,4	MCF-7	breast:
12	chr8:95958396..95961086-chr8:96079770..96081416,2	MCF-7	breast:
13	chr8:95960109..95960976-chr8:96036356..96037275,2	MCF-7	breast:
14	chr8:95959198..95962585-chr8:96144089..96147312,4	MCF-7	breast:
15	chr8:95958803..95961918-chr8:96144805..96148535,6	MCF-7	breast:
16	chr8:95959920..95961566-chr8:96108874..96111712,2	MCF-7	breast:
17	chr8:95959016..95961570-chr8:96028062..96029955,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253878	TF binding region
ENSG00000238791	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000253528	Chromatin interaction
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv3407090	chr8:95960201-95962949	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95957800-95963400	Active TSS	Pancreas	Pancrea
2	chr8:95958000-95962600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr8:95959000-95961000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr8:95959000-95962200	Active TSS	Rectal Smooth Muscle	rectum
5	chr8:95959200-95961000	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr8:95959200-95961000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr8:95959200-95961800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:95959400-95961800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:95959400-95961800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:95959400-95962400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:95959400-95962400	Active TSS	Right Atrium	heart
12	chr8:95959600-95961000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:95959600-95961600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:95959800-95961000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr8:95959800-95961200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:95959800-95962000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:95959800-95962000	Active TSS	Fetal Muscle Trunk	muscle
18	chr8:95959800-95962000	Active TSS	Small Intestine	intestine
19	chr8:95959800-95962200	Active TSS	Lung	lung
20	chr8:95959800-95962200	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr8:95960000-95961800	Active TSS	Stomach Smooth Muscle	stomach
22	chr8:95960000-95962000	Active TSS	Brain Germinal Matrix	brain
23	chr8:95960000-95962000	Active TSS	Right Ventricle	heart
24	chr8:95960000-95962200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:95960000-95962200	Active TSS	Left Ventricle	heart
26	chr8:95960000-95962200	Active TSS	HSMM	muscle
27	chr8:95960200-95961200	Active TSS	Placenta	Placenta
28	chr8:95960200-95962000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:95960200-95962000	Active TSS	GM12878-XiMat	blood
30	chr8:95960200-95962000	Active TSS	NHLF	lung
31	chr8:95960200-95962200	Active TSS	Duodenum Mucosa	Duodenum
32	chr8:95960200-95962400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:95960200-95962400	Active TSS	Liver	Liver
34	chr8:95960200-95962600	Active TSS	Aorta	Aorta
35	chr8:95960200-95962600	Active TSS	HSMMtube	muscle
36	chr8:95960200-95962800	Active TSS	Ovary	ovary
37	chr8:95960400-95961000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr8:95960400-95961000	Active TSS	Stomach Mucosa	stomach
39	chr8:95960400-95962000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:95960400-95962000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:95960400-95962000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:95960400-95962000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:95960400-95962000	Active TSS	Brain Anterior Caudate	brain
44	chr8:95960400-95962000	Active TSS	HUVEC	blood vessel
45	chr8:95960400-95962000	Active TSS	NHDF-Ad	bronchial
46	chr8:95960400-95962200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr8:95960400-95962200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:95960400-95962200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:95960400-95962200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:95960400-95962200	Active TSS	Placenta Amnion	Placenta Amnion

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