Variant report

Variant	esv3333568
Chromosome Location	chr8:110349134-110349396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr8:110348911-110349221	HepG2	liver:	n/a	n/a
2	FOXA1	chr8:110348922-110349246	T-47D	breast:	n/a	n/a
3	FOXA2	chr8:110348940-110349164	HepG2	liver:	n/a	n/a
4	MAFK	chr8:110348951-110349151	HepG2	liver:	n/a	n/a
5	ZNF384	chr8:110349076-110349398	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:110349212-110349262	HEEpiC	esophagus:	n/a
2	chr8:110349212-110349262	HCT-116	colon:	n/a
3	chr8:110349212-110349262	HUVEC	blood vessel:	n/a
4	chr8:110349212-110349262	NT2-D1	testis:	n/a
5	chr8:110349212-110349262	HL-60	blood:	n/a
6	chr8:110349212-110349262	PrEC	prostate:	n/a
7	chr8:110349212-110349262	Caco-2	colon:	n/a
8	chr8:110349212-110349262	HRE	kidney:	n/a
9	chr8:110349212-110349262	HCPEpiC	choroid plexus:	n/a
10	chr8:110349212-110349262	NHDF-neo	bronchial:	n/a
11	chr8:110349212-110349262	SAEC	small airway:	n/a
12	chr8:110349212-110349262	AoSMC	blood vessel:	n/a
13	chr8:110349212-110349262	Jurkat	blood:	n/a
14	chr8:110349212-110349262	SK-N-SH	brain:	n/a
15	chr8:110349212-110349262	AG04449	skin:	fetal
16	chr8:110349212-110349262	PANC-1	pancreas:	n/a
17	chr8:110349212-110349262	HepG2	liver:	n/a
18	chr8:110349212-110349262	IMR90	lung:	fetal
19	chr8:110349212-110349262	ECC-1	luminal epithelium:	n/a
20	chr8:110349212-110349262	NH-A	brain:	n/a
21	chr8:110349212-110349262	ProgFib	skin:	n/a
22	chr8:110349212-110349262	HCF	heart:	n/a
23	chr8:110349212-110349262	HCM	heart:	n/a
24	chr8:110349212-110349262	GM12891	blood:	n/a
25	chr8:110349212-110349262	RPTEC	kidney:	n/a
26	chr8:110349212-110349262	MCF10A-Er-Src	breast:	n/a
27	chr8:110349212-110349262	GM06990	blood:	n/a
28	chr8:110349212-110349262	HIPEpiC	eye:	n/a
29	chr8:110349212-110349262	U87	brain:	n/a
30	chr8:110349212-110349262	T-47D	breast:	n/a
31	chr8:110349212-110349262	NHBE	bronchial:	n/a
32	chr8:110349212-110349262	HRCEpiC	kidney:	n/a
33	chr8:110349212-110349262	K562	blood:	n/a
34	chr8:110349212-110349262	Hepatocyte	liver:	n/a
35	chr8:110349212-110349262	SK-N-MC	brain:	n/a
36	chr8:110349212-110349262	AG10803	skin:	n/a
37	chr8:110349212-110349262	H1-hESC	embryonic stem cell:	embryo
38	chr8:110349212-110349262	A549	lung:	n/a
39	chr8:110349212-110349262	LNCaP	prostate:	n/a
40	chr8:110349212-110349262	AG09309	skin:	n/a
41	chr8:110349212-110349262	GM12892	blood:	n/a
42	chr8:110349212-110349262	SKMC	muscle:	n/a
43	chr8:110349212-110349262	BE2_C	brain:	n/a
44	chr8:110349212-110349262	HMEC	breast:	n/a
45	chr8:110349212-110349262	HAEpiC	amniotic membrane:	n/a
46	chr8:110349212-110349262	HEK293	kidney:	embryo
47	chr8:110349212-110349262	HPAEpiC	pulmonary alveolar:	n/a
48	chr8:110349212-110349262	HNPCEpiC	eye:	n/a
49	chr8:110349212-110349262	HRPEpiC	eye:	n/a
50	chr8:110349212-110349262	MCF-7	breast:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110296774..110299286-chr8:110348162..110350315,2	K562	blood:
2	chr8:110344786..110348564-chr8:110349076..110353866,8	MCF-7	breast:
3	chr8:110346229..110349558-chr8:110551131..110555531,7	K562	blood:

No data

Variant related genes	Relation type
ENY2	TF binding region
NUDCD1	TF binding region
ENY2	CpG island
NUDCD1	CpG island
ENSG00000120526	chromatin interactions
ENSG00000147654	chromatin interactions
ENSG00000120533	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56238419	chr8:110349134-110349135	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551348839	chr8:110349174-110349175	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs142156633	chr8:110349178-110349179	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs530586959	chr8:110349190-110349191	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs550729516	chr8:110349196-110349197	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs146323404	chr8:110349210-110349211	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs536891007	chr8:110349212-110349213	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs546889789	chr8:110349216-110349217	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs567106986	chr8:110349249-110349250	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs139637827	chr8:110349262-110349263	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs371991406	chr8:110349297-110349298	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs374880464	chr8:110349340-110349341	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs142776380	chr8:110349341-110349342	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs73307521	chr8:110349367-110349368	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110347000-110358200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:110347000-110358400	Weak transcription	Spleen	Spleen
3	chr8:110347000-110358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:110347200-110354800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:110347200-110355000	Weak transcription	Lung	lung
6	chr8:110347200-110357600	Weak transcription	Pancreas	Pancrea
7	chr8:110347200-110358200	Weak transcription	Esophagus	oesophagus
8	chr8:110347200-110359800	Weak transcription	Gastric	stomach
9	chr8:110347400-110349200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr8:110347400-110349200	Weak transcription	Left Ventricle	heart
11	chr8:110347400-110349400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:110347400-110349800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:110347400-110350000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:110347400-110351200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:110347400-110356200	Weak transcription	Ovary	ovary
16	chr8:110347400-110358000	Weak transcription	Colonic Mucosa	Colon
17	chr8:110347400-110358400	Weak transcription	Fetal Brain Male	brain
18	chr8:110347400-110359400	Weak transcription	Aorta	Aorta
19	chr8:110347400-110359400	Weak transcription	Brain Substantia Nigra	brain
20	chr8:110347400-110360000	Weak transcription	Stomach Mucosa	stomach
21	chr8:110347600-110349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:110347600-110349800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:110347600-110350000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:110347600-110350200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:110347600-110350400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:110347600-110354800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:110347600-110354800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:110347600-110356000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:110347600-110357800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:110347600-110358200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:110347600-110358200	Weak transcription	HSMMtube	muscle
32	chr8:110347600-110358400	Weak transcription	Fetal Stomach	stomach
33	chr8:110348000-110349200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr8:110348000-110349200	Enhancers	Brain Cingulate Gyrus	brain
35	chr8:110348000-110349200	Genic enhancers	Rectal Smooth Muscle	rectum
36	chr8:110348000-110349200	Genic enhancers	HUVEC	blood vessel
37	chr8:110348000-110349400	Genic enhancers	Primary monocytes fromperipheralblood	blood
38	chr8:110348000-110349600	Weak transcription	Thymus	Thymus
39	chr8:110348000-110350800	Weak transcription	Psoas Muscle	Psoas
40	chr8:110348000-110351000	Weak transcription	Brain Angular Gyrus	brain
41	chr8:110348000-110356200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:110348000-110358400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:110348200-110349200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:110348200-110349200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:110348200-110349200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:110348200-110349200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:110348200-110349200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:110348200-110349200	Genic enhancers	Adipose Nuclei	Adipose
49	chr8:110348200-110349200	Genic enhancers	Fetal Lung	lung
50	chr8:110348200-110349400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell

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