Variant report

Variant	rs145919038
Chromosome Location	chr8:95960770-95960771
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr8:95960273-95963047	IMR90	lung:	n/a	chr8:95960758-95960768 chr8:95961728-95961739
2	MAX	chr8:95960731-95961186	ECC-1	luminal epithelium:	n/a	chr8:95960758-95960768
3	MAX	chr8:95960723-95961059	HepG2	liver:	n/a	chr8:95960758-95960768
4	TCF12	chr8:95960270-95962400	MCF-7	breast:	n/a	n/a
5	MAZ	chr8:95960453-95961107	GM12878	blood:	n/a	chr8:95960758-95960768
6	NR2F2	chr8:95960175-95961280	MCF-7	breast:	n/a	n/a
7	TAF1	chr8:95960586-95961184	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr8:95960707-95960904	GM12878	blood:	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	ZEB1	chr8:95960586-95960963	GM12878	blood:	n/a	chr8:95960690-95960702
23	NR2F2	chr8:95960457-95961077	MCF-7	breast:	n/a	n/a
24	POLR2A	chr8:95960684-95962608	GM15510	blood:	n/a	n/a
25	GATA3	chr8:95960392-95961110	MCF-7	breast:	n/a	n/a
26	BHLHE40	chr8:95960749-95960846	K562	blood:	n/a	chr8:95960754-95960770
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	HA-E2F1	chr8:95960456-95961031	MCF-7	breast:	n/a	n/a
32	MAZ	chr8:95960619-95961202	K562	blood:	n/a	chr8:95960758-95960768
33	POLR2A	chr8:95960485-95961192	H1-neurons	neurons:	n/a	n/a
34	HMGN3	chr8:95960697-95962495	K562	blood:	n/a	n/a
35	GTF2F1	chr8:95960695-95960812	H1-hESC	embryonic stem cell:	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	RXRA	chr8:95960588-95960813	HepG2	liver:	n/a	chr8:95960732-95960748
39	BACH1	chr8:95960641-95960846	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr8:95960471-95961265	GM12878	blood:	n/a	n/a
41	POLR2A	chr8:95960297-95961156	HepG2	liver:	n/a	n/a
42	ZBTB7A	chr8:95960747-95961248	ECC-1	luminal epithelium:	n/a	chr8:95960946-95960953
43	POLR2A	chr8:95960691-95960990	HCT-116	colon:	n/a	n/a
44	POLR2A	chr8:95960353-95962964	GM12878	blood:	n/a	n/a
45	POLR2A	chr8:95960724-95962872	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr8:95960561-95961256	GM12878	blood:	n/a	n/a
47	POLR2A	chr8:95960562-95961003	GM12892	blood:	n/a	n/a
48	MXI1	chr8:95960516-95961139	HepG2	liver:	n/a	n/a
49	MAX	chr8:95960719-95961180	H1-hESC	embryonic stem cell:	n/a	chr8:95960758-95960768
50	MYC	chr8:95960705-95960881	MCF-7	breast:	n/a	chr8:95960758-95960768

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:95960752-95960802	AG04450	lung:	fetal
2	chr8:95960752-95960802	SK-N-SH	brain:	n/a
3	chr8:95960752-95960802	GM12891	blood:	n/a
4	chr8:95960752-95960802	SK-N-MC	brain:	n/a
5	chr8:95960752-95960802	RPTEC	kidney:	n/a
6	chr8:95960752-95960802	NT2-D1	testis:	n/a
7	chr8:95960752-95960802	NH-A	brain:	n/a
8	chr8:95960752-95960802	H1-hESC	embryonic stem cell:	embryo
9	chr8:95960752-95960802	ECC-1	luminal epithelium:	n/a
10	chr8:95960752-95960802	HPAEpiC	pulmonary alveolar:	n/a
11	chr8:95960752-95960802	HRE	kidney:	n/a
12	chr8:95960752-95960802	LNCaP	prostate:	n/a
13	chr8:95960752-95960802	HAEpiC	amniotic membrane:	n/a
14	chr8:95960752-95960802	CMK	blood:	n/a
15	chr8:95960752-95960802	BE2_C	brain:	n/a
16	chr8:95960752-95960802	PANC-1	pancreas:	n/a
17	chr8:95960752-95960802	Hela-S3	cervix:	n/a
18	chr8:95960752-95960802	GM06990	blood:	n/a
19	chr8:95960752-95960802	HEK293	kidney:	embryo
20	chr8:95960752-95960802	PFSK-1	brain:	n/a
21	chr8:95960752-95960802	U87	brain:	n/a
22	chr8:95960752-95960802	HRPEpiC	eye:	n/a
23	chr8:95960752-95960802	HCM	heart:	n/a
24	chr8:95960752-95960802	SAEC	small airway:	n/a
25	chr8:95960752-95960802	GM12878	blood:	n/a
26	chr8:95960752-95960802	BJ	skin:	n/a
27	chr8:95960752-95960802	HCF	heart:	n/a
28	chr8:95960752-95960802	IMR90	lung:	fetal
29	chr8:95960752-95960802	HIPEpiC	eye:	n/a
30	chr8:95960752-95960802	Jurkat	blood:	n/a
31	chr8:95960752-95960802	Caco-2	colon:	n/a
32	chr8:95960752-95960802	AG10803	skin:	n/a
33	chr8:95960752-95960802	HRCEpiC	kidney:	n/a
34	chr8:95960752-95960802	HMEC	breast:	n/a
35	chr8:95960752-95960802	NHDF-neo	bronchial:	n/a
36	chr8:95960752-95960802	T-47D	breast:	n/a
37	chr8:95960752-95960802	HCT-116	colon:	n/a
38	chr8:95960752-95960802	NB4	blood:	n/a
39	chr8:95960752-95960802	HepG2	liver:	n/a
40	chr8:95960752-95960802	MCF10A-Er-Src	breast:	n/a
41	chr8:95960752-95960802	HNPCEpiC	eye:	n/a
42	chr8:95960752-95960802	MCF-7	breast:	n/a
43	chr8:95960752-95960802	GM19239	blood:	n/a
44	chr8:95960752-95960802	AG04449	skin:	fetal
45	chr8:95960752-95960802	K562	blood:	n/a
46	chr8:95960752-95960802	AoSMC	blood vessel:	n/a
47	chr8:95960752-95960802	HL-60	blood:	n/a
48	chr8:95960752-95960802	HCPEpiC	choroid plexus:	n/a
49	chr8:95960752-95960802	PrEC	prostate:	n/a
50	chr8:95960752-95960802	HEEpiC	esophagus:	n/a

(count:17 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
ENSG00000253878	TF binding region
ENSG00000253878	CpG island
ENSG00000238791	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000253528	Chromatin interaction
ENSG00000253773	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:126 , 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	chr8:95958400-95960800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr8:95959000-95960800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:95959000-95960800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:95959000-95960800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr8:95959000-95961000	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr8:95959000-95962200	Active TSS	Rectal Smooth Muscle	rectum
9	chr8:95959200-95960800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr8:95959200-95960800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:95959200-95960800	Flanking Active TSS	Fetal Thymus	thymus
12	chr8:95959200-95960800	Flanking Active TSS	Osteobl	bone
13	chr8:95959200-95961000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr8:95959200-95961000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr8:95959200-95961800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:95959400-95960800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:95959400-95960800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr8:95959400-95960800	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr8:95959400-95961800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:95959400-95961800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:95959400-95962400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:95959400-95962400	Active TSS	Right Atrium	heart
23	chr8:95959600-95960800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr8:95959600-95960800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr8:95959600-95960800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr8:95959600-95960800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr8:95959600-95961000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr8:95959600-95961600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:95959800-95960800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr8:95959800-95960800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr8:95959800-95960800	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr8:95959800-95960800	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr8:95959800-95960800	Flanking Active TSS	Fetal Stomach	stomach
34	chr8:95959800-95960800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr8:95959800-95960800	Enhancers	K562	blood
36	chr8:95959800-95961000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr8:95959800-95961200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:95959800-95962000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:95959800-95962000	Active TSS	Fetal Muscle Trunk	muscle
40	chr8:95959800-95962000	Active TSS	Small Intestine	intestine
41	chr8:95959800-95962200	Active TSS	Lung	lung
42	chr8:95959800-95962200	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr8:95960000-95960800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr8:95960000-95961800	Active TSS	Stomach Smooth Muscle	stomach
45	chr8:95960000-95962000	Active TSS	Brain Germinal Matrix	brain
46	chr8:95960000-95962000	Active TSS	Right Ventricle	heart
47	chr8:95960000-95962200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:95960000-95962200	Active TSS	Left Ventricle	heart
49	chr8:95960000-95962200	Active TSS	HSMM	muscle
50	chr8:95960200-95960800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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