Variant report

Variant	nsv967584
Chromosome Location	chr8:42939756-42940975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:62)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:42940607-42940743	SH-SY5Y	brain:	n/a	n/a
2	JUND	chr8:42940437-42940455	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:42940558-42940580	K562	blood:	n/a	n/a
4	POLR2A	chr8:42939734-42939843	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr8:42940710-42940863	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:42940706-42940876	HepG2	liver:	n/a	n/a
7	POLR2A	chr8:42940039-42940202	K562	blood:	n/a	n/a
8	POLR2A	chr8:42940566-42940666	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr8:42940810-42940843	K562	blood:	n/a	n/a
10	POLR2A	chr8:42940609-42940794	K562	blood:	n/a	n/a
11	POLR2A	chr8:42940740-42940843	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr8:42940595-42942925	K562	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:42940792-42940842	BE2_C	brain:	n/a
2	chr8:42940792-42940842	BE2_C	brain:	n/a
3	chr8:42940792-42940842	U87	brain:	n/a
4	chr8:42940792-42940842	GM06990	blood:	n/a
5	chr8:42940792-42940842	GM19239	blood:	n/a
6	chr8:42940792-42940842	HEEpiC	esophagus:	n/a
7	chr8:42940792-42940842	GM12891	blood:	n/a
8	chr8:42940792-42940842	HCT-116	colon:	n/a
9	chr8:42940792-42940842	HL-60	blood:	n/a
10	chr8:42940792-42940842	NT2-D1	testis:	n/a
11	chr8:42940792-42940842	AG10803	skin:	n/a
12	chr8:42940792-42940842	AG04450	lung:	fetal
13	chr8:42940792-42940842	HUVEC	blood vessel:	n/a
14	chr8:42940792-42940842	SKMC	muscle:	n/a
15	chr8:42940792-42940842	SK-N-MC	brain:	n/a
16	chr8:42940792-42940842	ProgFib	skin:	n/a
17	chr8:42940792-42940842	PFSK-1	brain:	n/a
18	chr8:42940792-42940842	AG04449	skin:	fetal
19	chr8:42940792-42940842	MCF-7	breast:	n/a
20	chr8:42940792-42940842	HAEpiC	amniotic membrane:	n/a
21	chr8:42940792-42940842	H1-hESC	embryonic stem cell:	embryo
22	chr8:42940792-42940842	GM12878	blood:	n/a
23	chr8:42940792-42940842	NH-A	brain:	n/a
24	chr8:42940792-42940842	HCPEpiC	choroid plexus:	n/a
25	chr8:42940792-42940842	HMEC	breast:	n/a
26	chr8:42940792-42940842	SAEC	small airway:	n/a
27	chr8:42940792-42940842	HIPEpiC	eye:	n/a
28	chr8:42940792-42940842	RPTEC	kidney:	n/a
29	chr8:42940792-42940842	ECC-1	luminal epithelium:	n/a
30	chr8:42940792-42940842	K562	blood:	n/a
31	chr8:42940792-42940842	Hepatocyte	liver:	n/a
32	chr8:42940792-42940842	HepG2	liver:	n/a
33	chr8:42940792-42940842	HRPEpiC	eye:	n/a
34	chr8:42940792-42940842	HCF	heart:	n/a
35	chr8:42940792-42940842	MCF10A-Er-Src	breast:	n/a
36	chr8:42940792-42940842	IMR90	lung:	fetal
37	chr8:42940792-42940842	NB4	blood:	n/a
38	chr8:42940792-42940842	HRE	kidney:	n/a
39	chr8:42940792-42940842	SK-N-SH	brain:	n/a
40	chr8:42940792-42940842	BJ	skin:	n/a
41	chr8:42940792-42940842	HNPCEpiC	eye:	n/a
42	chr8:42940792-42940842	ovcar-3	ovarian:	n/a
43	chr8:42940792-42940842	SK-N-SH_RA	brain:	n/a
44	chr8:42940792-42940842	Caco-2	colon:	n/a
45	chr8:42940792-42940842	AG09319	gingival:	n/a
46	chr8:42940792-42940842	HRCEpiC	kidney:	n/a
47	chr8:42940792-42940842	GM12892	blood:	n/a
48	chr8:42940792-42940842	LNCaP	prostate:	n/a
49	chr8:42940792-42940842	Hela-S3	cervix:	n/a
50	chr8:42940792-42940842	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42940470..42942928-chr8:42946346..42950034,3	K562	blood:
2	chr8:42910109..42913983-chr8:42935455..42940036,4	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	FNTA	hsa-miR-16-5p	chr8:42940575-42940581
2	FNTA	hsa-miR-16-5p	chr8:42940558-42940582
3	FNTA	hsa-miR-16-5p	chr8:42940578-42940585

Variant related genes	Relation type
FNTA	TF binding region
FNTA	CpG island
ENSG00000168522	chromatin interactions
ENSG00000185900	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 107 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147549198	chr8:42939763-42939764	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550955614	chr8:42939775-42939776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373224792	chr8:42939823-42939824	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs370193930	chr8:42939854-42939855	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369359760	chr8:42939866-42939867	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141224054	chr8:42939876-42939877	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs202246754	chr8:42939897-42939898	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373852144	chr8:42939901-42939902	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571058303	chr8:42939931-42939932	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2230266	chr8:42939934-42939935	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs377755753	chr8:42939986-42939987	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs139144868	chr8:42939989-42939990	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370951263	chr8:42940038-42940039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376440643	chr8:42940055-42940056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76008508	chr8:42940142-42940143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180844416	chr8:42940179-42940180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536728250	chr8:42940183-42940184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186516568	chr8:42940191-42940192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576909633	chr8:42940192-42940193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150025446	chr8:42940220-42940221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553292041	chr8:42940235-42940236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202218361	chr8:42940241-42940242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368459511	chr8:42940253-42940254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200436800	chr8:42940281-42940282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573207921	chr8:42940295-42940296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542021537	chr8:42940314-42940315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374000931	chr8:42940392-42940393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191418964	chr8:42940408-42940409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371907116	chr8:42940426-42940427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574807375	chr8:42940468-42940469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374884999	chr8:42940474-42940475	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145361728	chr8:42940475-42940476	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554884445	chr8:42940484-42940485	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182388872	chr8:42940492-42940493	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532370967	chr8:42940507-42940508	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs111906132	chr8:42940508-42940509	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs142364879	chr8:42940540-42940541	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528788946	chr8:42940566-42940567	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
39	rs548466550	chr8:42940568-42940569	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
40	rs146781943	chr8:42940649-42940650	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536699177	chr8:42940725-42940726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550647765	chr8:42940733-42940734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs377746719	chr8:42940750-42940751	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570601316	chr8:42940783-42940784	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536859657	chr8:42940787-42940788	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11554712	chr8:42940813-42940814	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187422693	chr8:42940847-42940848	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs3196850	chr8:42940868-42940869	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs190378282	chr8:42940903-42940904	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573144758	chr8:42940924-42940925	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21045282	CNVD
Lung cancer	17925434	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Intracranial aneurysm	16715129	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42912800-42943800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:42912800-42948000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:42913000-42941200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:42913600-42940600	Weak transcription	Small Intestine	intestine
5	chr8:42914400-42942000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr8:42914400-42942800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:42914400-42947800	Weak transcription	Stomach Mucosa	stomach
8	chr8:42914800-42942800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:42915200-42942000	Strong transcription	Fetal Intestine Large	intestine
10	chr8:42915400-42947200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:42916200-42941600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr8:42916200-42942000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:42916400-42941600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:42916400-42942200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:42916800-42942000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:42916800-42942800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:42917000-42942800	Strong transcription	Fetal Stomach	stomach
18	chr8:42917200-42941600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:42917600-42941600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr8:42917600-42941600	Strong transcription	Dnd41	blood
21	chr8:42917600-42941800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:42917600-42941800	Strong transcription	Adipose Nuclei	Adipose
23	chr8:42917600-42942000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:42917600-42942000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:42917600-42942800	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:42917800-42941400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:42917800-42941600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr8:42917800-42941600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr8:42917800-42941800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:42917800-42941800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr8:42917800-42942000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr8:42917800-42942400	Strong transcription	Placenta	Placenta
33	chr8:42917800-42943000	Strong transcription	Fetal Brain Female	brain
34	chr8:42918000-42941600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:42919000-42942000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr8:42919000-42943000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:42921000-42942600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:42922400-42941600	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr8:42922600-42942800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:42922800-42941600	Strong transcription	Primary B cells from cord blood	blood
41	chr8:42923600-42941600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:42923600-42942800	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:42923800-42941200	Strong transcription	Left Ventricle	heart
44	chr8:42924000-42941800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:42924400-42941800	Strong transcription	Fetal Thymus	thymus
46	chr8:42924400-42941800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:42927200-42943000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:42929400-42941600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:42931200-42941800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr8:42931600-42941200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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