Variant report

Variant	rs10464839
Chromosome Location	chr8:100811489-100811490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr8:100811277-100811828	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr8:100811307-100811827	MCF10A-Er-Src	breast:	n/a	chr8:100811323-100811330 chr8:100811639-100811650
3	JUND	chr8:100811149-100811858	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr8:100811051-100811963	SK-N-SH	brain:	n/a	n/a
5	MYC	chr8:100811367-100811894	MCF10A-Er-Src	breast:	n/a	chr8:100811716-100811725
6	FOS	chr8:100811255-100811843	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr8:100811219-100811817	MCF10A-Er-Src	breast:	n/a	chr8:100811323-100811330 chr8:100811639-100811650
8	TEAD4	chr8:100811199-100811812	SK-N-SH	brain:	n/a	chr8:100811406-100811415
9	STAT3	chr8:100811419-100811847	MCF10A-Er-Src	breast:	n/a	chr8:100811639-100811650
10	NFIC	chr8:100811106-100811817	SK-N-SH	brain:	n/a	n/a
11	TCF12	chr8:100811052-100811870	SK-N-SH	brain:	n/a	chr8:100811119-100811126
12	FOS	chr8:100811226-100811894	MCF10A-Er-Src	breast:	n/a	n/a
13	GATA3	chr8:100811114-100811824	SK-N-SH	brain:	n/a	n/a
14	EP300	chr8:100811072-100811833	SK-N-SH	brain:	n/a	n/a
15	STAT3	chr8:100811406-100811805	MCF10A-Er-Src	breast:	n/a	chr8:100811639-100811650
16	PBX3	chr8:100811131-100811781	SK-N-SH	brain:	n/a	n/a
17	CEBPB	chr8:100811481-100811834	IMR90	lung:	n/a	chr8:100811660-100811671
18	PBX3	chr8:100811151-100811834	SK-N-SH	brain:	n/a	n/a
19	CEBPB	chr8:100811482-100811791	MCF-7	breast:	n/a	chr8:100811660-100811671
20	FOSL2	chr8:100811145-100811743	SK-N-SH	brain:	n/a	n/a
21	FOS	chr8:100811226-100812225	MCF10A-Er-Src	breast:	n/a	chr8:100812211-100812220
22	TCF12	chr8:100811141-100811881	SK-N-SH	brain:	n/a	n/a
23	CEBPB	chr8:100811244-100811855	Hela-S3	cervix:	n/a	chr8:100811660-100811671
24	JUND	chr8:100811166-100811858	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:100811462-100811512	HPAEpiC	pulmonary alveolar:	n/a
2	chr8:100811462-100811512	Hepatocyte	liver:	n/a
3	chr8:100811462-100811512	PANC-1	pancreas:	n/a
4	chr8:100811462-100811512	HCPEpiC	choroid plexus:	n/a
5	chr8:100811462-100811512	SK-N-SH_RA	brain:	n/a
6	chr8:100811462-100811512	GM12878	blood:	n/a
7	chr8:100811462-100811512	HRCEpiC	kidney:	n/a
8	chr8:100811462-100811512	SK-N-MC	brain:	n/a
9	chr8:100811462-100811512	HAEpiC	amniotic membrane:	n/a
10	chr8:100811462-100811512	HCT-116	colon:	n/a
11	chr8:100811462-100811512	HRE	kidney:	n/a
12	chr8:100811462-100811512	HCF	heart:	n/a
13	chr8:100811462-100811512	SKMC	muscle:	n/a
14	chr8:100811462-100811512	ProgFib	skin:	n/a
15	chr8:100811462-100811512	NB4	blood:	n/a
16	chr8:100811462-100811512	Jurkat	blood:	n/a
17	chr8:100811462-100811512	RPTEC	kidney:	n/a
18	chr8:100811462-100811512	AoSMC	blood vessel:	n/a
19	chr8:100811462-100811512	H1-hESC	embryonic stem cell:	embryo
20	chr8:100811462-100811512	NH-A	brain:	n/a
21	chr8:100811462-100811512	LNCaP	prostate:	n/a
22	chr8:100811462-100811512	IMR90	lung:	fetal
23	chr8:100811462-100811512	BJ	skin:	n/a
24	chr8:100811462-100811512	HRPEpiC	eye:	n/a
25	chr8:100811462-100811512	NT2-D1	testis:	n/a
26	chr8:100811462-100811512	HUVEC	blood vessel:	n/a
27	chr8:100811462-100811512	NHBE	bronchial:	n/a
28	chr8:100811462-100811512	HMEC	breast:	n/a
29	chr8:100811462-100811512	A549	lung:	n/a
30	chr8:100811462-100811512	SK-N-SH	brain:	n/a
31	chr8:100811462-100811512	AG04450	lung:	fetal
32	chr8:100811462-100811512	PrEC	prostate:	n/a
33	chr8:100811462-100811512	HEK293	kidney:	embryo
34	chr8:100811462-100811512	ovcar-3	ovarian:	n/a
35	chr8:100811462-100811512	GM12891	blood:	n/a
36	chr8:100811462-100811512	Caco-2	colon:	n/a
37	chr8:100811462-100811512	GM06990	blood:	n/a
38	chr8:100811462-100811512	CMK	blood:	n/a
39	chr8:100811462-100811512	GM12892	blood:	n/a
40	chr8:100811462-100811512	AG04449	skin:	fetal
41	chr8:100811462-100811512	GM19239	blood:	n/a
42	chr8:100811462-100811512	AG10803	skin:	n/a
43	chr8:100811462-100811512	SAEC	small airway:	n/a
44	chr8:100811462-100811512	AG09319	gingival:	n/a
45	chr8:100811462-100811512	HL-60	blood:	n/a
46	chr8:100811462-100811512	MCF-7	breast:	n/a
47	chr8:100811462-100811512	HIPEpiC	eye:	n/a
48	chr8:100811462-100811512	HepG2	liver:	n/a
49	chr8:100811462-100811512	Hela-S3	cervix:	n/a
50	chr8:100811462-100811512	PFSK-1	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000253539	TF binding region
ENSG00000253539	CpG island

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	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1033944	chr8:100737321-100916345	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv1830910	chr8:100791156-101114794	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100766200-100815600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr8:100772400-100824400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr8:100775000-100822400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:100778400-100857800	Weak transcription	Spleen	Spleen
5	chr8:100780400-100816400	Weak transcription	Lung	lung
6	chr8:100783200-100841000	Weak transcription	Right Ventricle	heart
7	chr8:100783200-100858200	Weak transcription	Gastric	stomach
8	chr8:100783400-100857200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:100787600-100812200	Weak transcription	Fetal Thymus	thymus
10	chr8:100787800-100831600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:100789600-100842400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:100791400-100861600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:100791600-100812600	Weak transcription	Brain Anterior Caudate	brain
14	chr8:100797000-100816400	Weak transcription	Esophagus	oesophagus
15	chr8:100797200-100824400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:100797400-100821600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:100797600-100829800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:100798200-100822200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr8:100798400-100816400	Weak transcription	Pancreas	Pancrea
20	chr8:100798400-100823400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:100798400-100846400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:100799400-100816400	Weak transcription	Left Ventricle	heart
23	chr8:100799400-100822000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:100799600-100822000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:100799600-100829400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:100801200-100825000	Weak transcription	Fetal Intestine Large	intestine
27	chr8:100802000-100836400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:100803400-100824600	Weak transcription	Dnd41	blood
29	chr8:100803800-100829400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:100804200-100821600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr8:100804200-100832000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:100805000-100816600	Weak transcription	Fetal Intestine Small	intestine
33	chr8:100805000-100832000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:100805200-100822000	Weak transcription	Thymus	Thymus
35	chr8:100807200-100824600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:100807200-100857200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:100807400-100847800	Weak transcription	Liver	Liver
38	chr8:100807600-100816400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr8:100807600-100825400	Weak transcription	HepG2	liver
40	chr8:100808000-100817600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:100808200-100815200	Weak transcription	K562	blood
42	chr8:100808200-100818200	Weak transcription	Psoas Muscle	Psoas
43	chr8:100808400-100829800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:100809400-100820800	Weak transcription	Primary T cells from cord blood	blood
45	chr8:100809400-100822600	Weak transcription	Primary B cells from cord blood	blood
46	chr8:100809400-100839200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:100809400-100847600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:100809800-100811600	Enhancers	Fetal Stomach	stomach
49	chr8:100810200-100812000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:100810200-100812400	Enhancers	Rectal Smooth Muscle	rectum

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