Variant report

Variant	rs570726961
Chromosome Location	chr8:95961565-95961566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:283)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr8:95961486-95962146	ECC-1	luminal epithelium:	n/a	n/a
2	TAF1	chr8:95961441-95961913	SK-N-SH	brain:	n/a	n/a
3	RAD21	chr8:95961541-95961871	IMR90	lung:	n/a	n/a
4	POLR2A	chr8:95961362-95961975	PANC-1	pancreas:	n/a	n/a
5	SIN3AK20	chr8:95961435-95961908	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr8:95961418-95963288	HepG2	liver:	n/a	n/a
7	TAF1	chr8:95961403-95962022	SK-N-SH	brain:	n/a	n/a
8	YY1	chr8:95961543-95961996	GM12892	blood:	n/a	chr8:95961863-95961877 chr8:95961894-95961905 chr8:95961866-95961880
9	EP300	chr8:95961236-95962083	ECC-1	luminal epithelium:	n/a	chr8:95961887-95961903
10	TAF1	chr8:95961402-95962236	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr8:95961456-95961983	K562	blood:	n/a	n/a
12	MAZ	chr8:95960273-95963047	IMR90	lung:	n/a	chr8:95960758-95960768 chr8:95961728-95961739
13	POLR2A	chr8:95961269-95962131	ECC-1	luminal epithelium:	n/a	n/a
14	NFYA	chr8:95961511-95961813	Hela-S3	cervix:	n/a	chr8:95961672-95961690
15	TCF7L2	chr8:95961362-95961883	HCT-116	colon:	n/a	n/a
16	MAX	chr8:95961360-95962664	A549	lung:	n/a	chr8:95961728-95961739
17	TCF12	chr8:95960270-95962400	MCF-7	breast:	n/a	n/a
18	ZMIZ1	chr8:95961522-95961910	K562	blood:	n/a	n/a
19	MAX	chr8:95961529-95962021	HUVEC	blood vessel:	n/a	chr8:95961728-95961739
20	NFIC	chr8:95961328-95962101	ECC-1	luminal epithelium:	n/a	n/a
21	ZNF143	chr8:95961479-95961670	K562	blood:	n/a	n/a
22	RCOR1	chr8:95961424-95961923	K562	blood:	n/a	n/a
23	POLR2A	chr8:95961432-95961629	HepG2	liver:	n/a	n/a
24	ELF1	chr8:95961305-95962044	GM12878	blood:	n/a	chr8:95961863-95961875
25	JUND	chr8:95961517-95961689	HepG2	liver:	n/a	n/a
26	TCF12	chr8:95961422-95962114	A549	lung:	n/a	n/a
27	POU2F2	chr8:95961410-95962060	GM12878	blood:	n/a	chr8:95961472-95961484 chr8:95961863-95961875
28	TCF7L2	chr8:95961511-95961762	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr8:95961449-95961623	HepG2	liver:	n/a	n/a
30	CEBPD	chr8:95961444-95961944	HepG2	liver:	n/a	n/a
31	EP300	chr8:95961563-95961881	K562	blood:	n/a	n/a
32	ZNF143	chr8:95961415-95962162	GM12878	blood:	n/a	chr8:95961820-95961839
33	POLR2A	chr8:95961249-95962107	MCF-7	breast:	n/a	n/a
34	EGR1	chr8:95961558-95961889	K562	blood:	n/a	n/a
35	POLR2A	chr8:95961408-95962049	A549	lung:	n/a	n/a
36	IRF1	chr8:95961534-95961818	K562	blood:	n/a	n/a
37	POLR2A	chr8:95961443-95962146	U87	brain:	n/a	n/a
38	POLR2A	chr8:95961424-95961616	A549	lung:	n/a	n/a
39	ELF1	chr8:95961505-95961808	K562	blood:	n/a	n/a
40	SIN3AK20	chr8:95961384-95961896	K562	blood:	n/a	n/a
41	POLR2A	chr8:95961356-95963137	GM12878	blood:	n/a	n/a
42	USF1	chr8:95961403-95962007	ECC-1	luminal epithelium:	n/a	chr8:95961730-95961739 chr8:95961728-95961739 chr8:95961861-95961877 chr8:95961525-95961541 chr8:95961729-95961738 chr8:95961518-95961534 chr8:95961729-95961738
43	TAF1	chr8:95961368-95962003	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr8:95961348-95961943	A549	lung:	n/a	n/a
45	MAZ	chr8:95961409-95962148	GM12878	blood:	n/a	chr8:95961728-95961739
46	USF1	chr8:95961459-95962083	SK-N-SH_RA	brain:	n/a	chr8:95961730-95961739 chr8:95961728-95961739 chr8:95961861-95961877 chr8:95961525-95961541 chr8:95961729-95961738 chr8:95961518-95961534 chr8:95961729-95961738
47	ATF3	chr8:95961544-95961786	HepG2	liver:	n/a	n/a
48	TAF1	chr8:95961369-95962455	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr8:95961363-95962437	H1-hESC	embryonic stem cell:	n/a	n/a
50	USF1	chr8:95961540-95961933	K562	blood:	n/a	chr8:95961730-95961739 chr8:95961728-95961739 chr8:95961861-95961877 chr8:95961729-95961738 chr8:95961729-95961738

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:95961556-95961606	HAEpiC	amniotic membrane:	n/a
2	chr8:95961556-95961606	AoSMC	blood vessel:	n/a
3	chr8:95961556-95961606	BE2_C	brain:	n/a
4	chr8:95961556-95961606	ovcar-3	ovarian:	n/a
5	chr8:95961556-95961606	IMR90	lung:	fetal
6	chr8:95961556-95961606	HRE	kidney:	n/a
7	chr8:95961556-95961606	GM12891	blood:	n/a
8	chr8:95961556-95961606	ECC-1	luminal epithelium:	n/a
9	chr8:95961556-95961606	T-47D	breast:	n/a
10	chr8:95961556-95961606	Hela-S3	cervix:	n/a
11	chr8:95961556-95961606	AG09309	skin:	n/a
12	chr8:95961556-95961606	HEEpiC	esophagus:	n/a
13	chr8:95961556-95961606	HRPEpiC	eye:	n/a
14	chr8:95961556-95961606	NH-A	brain:	n/a
15	chr8:95961556-95961606	HCM	heart:	n/a
16	chr8:95961556-95961606	HCT-116	colon:	n/a
17	chr8:95961556-95961606	SKMC	muscle:	n/a
18	chr8:95961556-95961606	LNCaP	prostate:	n/a
19	chr8:95961556-95961606	A549	lung:	n/a
20	chr8:95961556-95961606	HPAEpiC	pulmonary alveolar:	n/a
21	chr8:95961556-95961606	GM06990	blood:	n/a
22	chr8:95961556-95961606	GM12892	blood:	n/a
23	chr8:95961556-95961606	SK-N-MC	brain:	n/a
24	chr8:95961556-95961606	K562	blood:	n/a
25	chr8:95961556-95961606	NB4	blood:	n/a
26	chr8:95961556-95961606	GM19239	blood:	n/a
27	chr8:95961556-95961606	HMEC	breast:	n/a
28	chr8:95961556-95961606	GM12878	blood:	n/a
29	chr8:95961556-95961606	AG04450	lung:	fetal
30	chr8:95961556-95961606	ProgFib	skin:	n/a
31	chr8:95961556-95961606	Hepatocyte	liver:	n/a
32	chr8:95961556-95961606	HRCEpiC	kidney:	n/a
33	chr8:95961556-95961606	U87	brain:	n/a
34	chr8:95961556-95961606	AG09319	gingival:	n/a
35	chr8:95961556-95961606	HepG2	liver:	n/a
36	chr8:95961556-95961606	PANC-1	pancreas:	n/a
37	chr8:95961556-95961606	HCPEpiC	choroid plexus:	n/a
38	chr8:95961556-95961606	HNPCEpiC	eye:	n/a
39	chr8:95961556-95961606	AG10803	skin:	n/a
40	chr8:95961556-95961606	RPTEC	kidney:	n/a
41	chr8:95961556-95961606	CMK	blood:	n/a
42	chr8:95961556-95961606	BJ	skin:	n/a
43	chr8:95961556-95961606	MCF-7	breast:	n/a
44	chr8:95961556-95961606	Jurkat	blood:	n/a
45	chr8:95961556-95961606	HUVEC	blood vessel:	n/a
46	chr8:95961556-95961606	HCF	heart:	n/a
47	chr8:95961556-95961606	MCF10A-Er-Src	breast:	n/a
48	chr8:95961556-95961606	PFSK-1	brain:	n/a
49	chr8:95961556-95961606	HIPEpiC	eye:	n/a
50	chr8:95961556-95961606	NHBE	bronchial:	n/a

(count:14 , 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	chr8:95905045..95910108-chr8:95959761..95963234,8	MCF-7	breast:
6	chr8:95956652..95964127-chr8:96035798..96039465,14	MCF-7	breast:
7	chr8:95959784..95963292-chr8:96036254..96039616,3	K562	blood:
8	chr8:95959680..95964310-chr8:96036583..96039456,6	MCF-7	breast:
9	chr8:95913634..95919106-chr8:95960002..95963177,4	MCF-7	breast:
10	chr8:95959198..95962585-chr8:96144089..96147312,4	MCF-7	breast:
11	chr8:95958803..95961918-chr8:96144805..96148535,6	MCF-7	breast:
12	chr8:95959920..95961566-chr8:96108874..96111712,2	MCF-7	breast:
13	chr8:95959016..95961570-chr8:96028062..96029955,2	MCF-7	breast:
14	chr8:95961511..95965084-chr8:95968441..95972141,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253878	TF binding region
ENSG00000253878	CpG island
ENSG00000238791	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000253528	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000156172	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:124 , 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	chr8:95959000-95962200	Active TSS	Rectal Smooth Muscle	rectum
4	chr8:95959200-95961800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:95959400-95961800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:95959400-95961800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:95959400-95962400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:95959400-95962400	Active TSS	Right Atrium	heart
9	chr8:95959600-95961600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:95959800-95962000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:95959800-95962000	Active TSS	Fetal Muscle Trunk	muscle
12	chr8:95959800-95962000	Active TSS	Small Intestine	intestine
13	chr8:95959800-95962200	Active TSS	Lung	lung
14	chr8:95959800-95962200	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr8:95960000-95961800	Active TSS	Stomach Smooth Muscle	stomach
16	chr8:95960000-95962000	Active TSS	Brain Germinal Matrix	brain
17	chr8:95960000-95962000	Active TSS	Right Ventricle	heart
18	chr8:95960000-95962200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:95960000-95962200	Active TSS	Left Ventricle	heart
20	chr8:95960000-95962200	Active TSS	HSMM	muscle
21	chr8:95960200-95962000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:95960200-95962000	Active TSS	GM12878-XiMat	blood
23	chr8:95960200-95962000	Active TSS	NHLF	lung
24	chr8:95960200-95962200	Active TSS	Duodenum Mucosa	Duodenum
25	chr8:95960200-95962400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:95960200-95962400	Active TSS	Liver	Liver
27	chr8:95960200-95962600	Active TSS	Aorta	Aorta
28	chr8:95960200-95962600	Active TSS	HSMMtube	muscle
29	chr8:95960200-95962800	Active TSS	Ovary	ovary
30	chr8:95960400-95962000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:95960400-95962000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:95960400-95962000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:95960400-95962000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:95960400-95962000	Active TSS	Brain Anterior Caudate	brain
35	chr8:95960400-95962000	Active TSS	HUVEC	blood vessel
36	chr8:95960400-95962000	Active TSS	NHDF-Ad	bronchial
37	chr8:95960400-95962200	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr8:95960400-95962200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:95960400-95962200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:95960400-95962200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:95960400-95962200	Active TSS	Placenta Amnion	Placenta Amnion
42	chr8:95960400-95962400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr8:95960400-95962400	Active TSS	Colon Smooth Muscle	Colon
44	chr8:95960400-95962600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:95960400-95962600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:95960400-95962600	Active TSS	Brain Angular Gyrus	brain
47	chr8:95960400-95962600	Active TSS	Fetal Kidney	kidney
48	chr8:95960600-95961800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr8:95960600-95962000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:95960600-95962000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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