Variant report

Variant	rs112106165
Chromosome Location	chr8:60031845-60031846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:60031565-60031866	SK-N-SH_RA	brain:	n/a	n/a
2	MAZ	chr8:60031565-60032927	IMR90	lung:	n/a	chr8:60031868-60031878
3	TAF1	chr8:60030931-60031981	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr8:60031557-60032747	H1-hESC	embryonic stem cell:	n/a	n/a
5	RUNX3	chr8:60031433-60031867	GM12878	blood:	n/a	chr8:60031682-60031691 chr8:60031682-60031691
6	TAF1	chr8:60031474-60031860	H1-neurons	neurons:	n/a	n/a
7	E2F6	chr8:60031701-60031859	K562	blood:	n/a	n/a
8	POLR2A	chr8:60031586-60031863	ECC-1	luminal epithelium:	n/a	n/a
9	MXI1	chr8:60029834-60032002	IMR90	lung:	n/a	chr8:60030980-60030995
10	POLR2A	chr8:60026013-60032839	GM12892	blood:	n/a	n/a
11	POLR2A	chr8:60031283-60031869	HUVEC	blood vessel:	n/a	n/a
12	REST	chr8:60029630-60032925	H1-neurons	neurons:	n/a	chr8:60030756-60030769 chr8:60031242-60031262 chr8:60030645-60030658
13	SMC3	chr8:60029628-60033412	SK-N-SH	brain:	n/a	chr8:60030234-60030241
14	POLR2A	chr8:60029859-60032686	Raji	blood:	n/a	n/a
15	ZNF384	chr8:60031584-60031850	K562	blood:	n/a	n/a
16	POLR2A	chr8:60031144-60031906	GM12892	blood:	n/a	n/a
17	POLR2A	chr8:60029804-60033039	GM18505	blood:	n/a	n/a
18	POLR2A	chr8:60031154-60032680	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr8:60030906-60032025	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr8:60029485-60031855	GM12892	blood:	n/a	n/a
21	POLR2A	chr8:60029808-60032733	GM15510	blood:	n/a	n/a
22	POLR2A	chr8:60031583-60031849	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr8:60029780-60032021	H1-neurons	neurons:	n/a	n/a
24	MXI1	chr8:60027222-60033187	SK-N-SH	brain:	n/a	chr8:60030980-60030995
25	POLR2A	chr8:60029558-60032008	GM12892	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:60031823-60031873	PFSK-1	brain:	n/a
2	chr8:60031832-60031882	SAEC	small airway:	n/a
3	chr8:60031829-60031879	HCPEpiC	choroid plexus:	n/a
4	chr8:60031832-60031882	GM12892	blood:	n/a
5	chr8:60031823-60031873	HCM	heart:	n/a
6	chr8:60031832-60031882	ProgFib	skin:	n/a
7	chr8:60031829-60031879	BJ	skin:	n/a
8	chr8:60031829-60031879	HRPEpiC	eye:	n/a
9	chr8:60031823-60031873	SKMC	muscle:	n/a
10	chr8:60031832-60031882	HCM	heart:	n/a
11	chr8:60031829-60031879	Caco-2	colon:	n/a
12	chr8:60031829-60031879	T-47D	breast:	n/a
13	chr8:60031823-60031873	HepG2	liver:	n/a
14	chr8:60031832-60031882	AG09309	skin:	n/a
15	chr8:60031832-60031882	NT2-D1	testis:	n/a
16	chr8:60031823-60031873	ECC-1	luminal epithelium:	n/a
17	chr8:60031832-60031882	HPAEpiC	pulmonary alveolar:	n/a
18	chr8:60031823-60031873	BJ	skin:	n/a
19	chr8:60031832-60031882	HRE	kidney:	n/a
20	chr8:60031832-60031882	GM19239	blood:	n/a
21	chr8:60031832-60031882	AG10803	skin:	n/a
22	chr8:60031832-60031882	PrEC	prostate:	n/a
23	chr8:60031829-60031879	GM06990	blood:	n/a
24	chr8:60031823-60031873	Hepatocyte	liver:	n/a
25	chr8:60031829-60031879	SK-N-MC	brain:	n/a
26	chr8:60031823-60031873	H1-hESC	embryonic stem cell:	embryo
27	chr8:60031823-60031873	U87	brain:	n/a
28	chr8:60031829-60031879	RPTEC	kidney:	n/a
29	chr8:60031823-60031873	Hela-S3	cervix:	n/a
30	chr8:60031832-60031882	SK-N-MC	brain:	n/a
31	chr8:60031823-60031873	HNPCEpiC	eye:	n/a
32	chr8:60031832-60031882	AG09319	gingival:	n/a
33	chr8:60031832-60031882	NHDF-neo	bronchial:	n/a
34	chr8:60031823-60031873	HMEC	breast:	n/a
35	chr8:60031823-60031873	AG04449	skin:	fetal
36	chr8:60031823-60031873	BE2_C	brain:	n/a
37	chr8:60031829-60031879	BE2_C	brain:	n/a
38	chr8:60031823-60031873	RPTEC	kidney:	n/a
39	chr8:60031829-60031879	AG04449	skin:	fetal
40	chr8:60031829-60031879	HUVEC	blood vessel:	n/a
41	chr8:60031823-60031873	NT2-D1	testis:	n/a
42	chr8:60031832-60031882	HCPEpiC	choroid plexus:	n/a
43	chr8:60031829-60031879	HCF	heart:	n/a
44	chr8:60031829-60031879	NHDF-neo	bronchial:	n/a
45	chr8:60031823-60031873	A549	lung:	n/a
46	chr8:60031832-60031882	HMEC	breast:	n/a
47	chr8:60031823-60031873	NB4	blood:	n/a
48	chr8:60031829-60031879	HPAEpiC	pulmonary alveolar:	n/a
49	chr8:60031832-60031882	ovcar-3	ovarian:	n/a
50	chr8:60031832-60031882	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:30823811..30824311-chr8:60031802..60032305,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
TOX	TF binding region
ENSG00000167912	TF binding region
TOX	CpG island
ENSG00000167912	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831327	chr8:60008412-60159152	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3524312	chr8:60030498-60033446	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3524313	chr8:60030498-60033446	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3358496	chr8:60030823-60033771	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:60027600-60032600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:60027600-60033200	Active TSS	Brain Angular Gyrus	brain
3	chr8:60027600-60033200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:60027800-60032600	Active TSS	Fetal Thymus	thymus
5	chr8:60027800-60032800	Active TSS	Fetal Brain Male	brain
6	chr8:60028000-60032400	Active TSS	Duodenum Mucosa	Duodenum
7	chr8:60028000-60033000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr8:60028200-60032600	Active TSS	Colon Smooth Muscle	Colon
9	chr8:60028400-60032600	Active TSS	Rectal Smooth Muscle	rectum
10	chr8:60028400-60033000	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr8:60028400-60033000	Active TSS	NH-A	brain
12	chr8:60028600-60032800	Active TSS	Thymus	Thymus
13	chr8:60029000-60032600	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr8:60029000-60032800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:60029000-60033200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:60029200-60032400	Active TSS	Brain Anterior Caudate	brain
17	chr8:60029200-60033000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr8:60029200-60033000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:60029200-60033200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:60029400-60032400	Active TSS	Dnd41	blood
21	chr8:60029400-60032600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:60029400-60033000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:60029600-60032400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:60029600-60033000	Active TSS	Fetal Kidney	kidney
25	chr8:60029600-60033000	Active TSS	NHDF-Ad	bronchial
26	chr8:60029800-60032200	Active TSS	Lung	lung
27	chr8:60029800-60032400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:60029800-60032400	Active TSS	Right Ventricle	heart
29	chr8:60029800-60032400	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr8:60029800-60032600	Active TSS	Small Intestine	intestine
31	chr8:60029800-60032800	Active TSS	Esophagus	oesophagus
32	chr8:60029800-60033000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:60029800-60033000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:60029800-60033000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:60029800-60033000	Active TSS	Primary T cells from cord blood	blood
36	chr8:60029800-60033000	Active TSS	Muscle Satellite Cultured Cells	--
37	chr8:60029800-60033000	Active TSS	Right Atrium	heart
38	chr8:60029800-60033000	Active TSS	HSMM	muscle
39	chr8:60030000-60032400	Active TSS	Gastric	stomach
40	chr8:60030000-60032600	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr8:60030000-60032800	Active TSS	Ovary	ovary
42	chr8:60030000-60033000	Active TSS	Osteobl	bone
43	chr8:60030200-60032600	Active TSS	HUVEC	blood vessel
44	chr8:60030200-60033200	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr8:60030400-60032600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:60030400-60032600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:60030400-60032600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:60030400-60032600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:60030400-60032800	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr8:60030400-60032800	Active TSS	iPS-18 Cell Line	embryonic stem cell

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