Variant report

Variant	nsv981219
Chromosome Location	chr6:58250075-58259917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
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	CTCF	chr6:58256365-58256688	K562	blood:	n/a	n/a
2	CTCF	chr6:58256381-58256729	K562	blood:	n/a	n/a
3	FOXA1	chr6:58257736-58258122	HepG2	liver:	n/a	n/a
4	FOXA1	chr6:58253287-58253443	T-47D	breast:	n/a	n/a
5	FOXA2	chr6:58254029-58254447	A549	lung:	n/a	n/a
6	FOXP2	chr6:58254853-58255082	PFSK-1	brain:	n/a	n/a
7	GABPA	chr6:58252772-58252994	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr6:58255406-58255607	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr6:58249919-58250153	Hela-S3	cervix:	n/a	n/a
10	JUND	chr6:58250610-58250784	HepG2	liver:	n/a	n/a
11	PAX5	chr6:58259787-58260056	GM12878	blood:	n/a	n/a
12	PAX5	chr6:58252698-58253025	GM12878	blood:	n/a	n/a
13	PAX5	chr6:58254519-58254670	GM12878	blood:	n/a	n/a
14	PAX5	chr6:58255269-58255528	GM12878	blood:	n/a	n/a
15	PAX5	chr6:58251537-58251720	GM12878	blood:	n/a	n/a
16	PBX3	chr6:58257922-58258171	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:58255389-58255681	GM12878	blood:	n/a	n/a
18	POU2F2	chr6:58250508-58250881	GM12878	blood:	n/a	n/a
19	POU2F2	chr6:58252717-58253041	GM12878	blood:	n/a	n/a
20	POU2F2	chr6:58257863-58258217	GM12878	blood:	n/a	n/a
21	SPI1	chr6:58255389-58255603	GM12878	blood:	n/a	n/a
22	SPI1	chr6:58252806-58252946	K562	blood:	n/a	n/a
23	SPI1	chr6:58253289-58253470	GM12878	blood:	n/a	n/a
24	TCF3	chr6:58252730-58252976	GM12878	blood:	n/a	n/a
25	ZBTB33	chr6:58250669-58250875	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:58259157-58259207	U87	brain:	n/a
2	chr6:58259157-58259207	U87	brain:	n/a
3	chr6:58259157-58259207	PFSK-1	brain:	n/a
4	chr6:58259157-58259207	HCM	heart:	n/a
5	chr6:58259157-58259207	Jurkat	blood:	n/a
6	chr6:58259157-58259207	HL-60	blood:	n/a
7	chr6:58259157-58259207	AG09319	gingival:	n/a
8	chr6:58259157-58259207	K562	blood:	n/a
9	chr6:58259157-58259207	HEK293	kidney:	embryo
10	chr6:58259157-58259207	HRPEpiC	eye:	n/a
11	chr6:58259157-58259207	HEEpiC	esophagus:	n/a
12	chr6:58259157-58259207	GM06990	blood:	n/a
13	chr6:58259157-58259207	HAEpiC	amniotic membrane:	n/a
14	chr6:58259157-58259207	HepG2	liver:	n/a
15	chr6:58259157-58259207	T-47D	breast:	n/a
16	chr6:58259157-58259207	HNPCEpiC	eye:	n/a
17	chr6:58259157-58259207	Caco-2	colon:	n/a
18	chr6:58259157-58259207	BJ	skin:	n/a
19	chr6:58259157-58259207	HUVEC	blood vessel:	n/a
20	chr6:58259157-58259207	H1-hESC	embryonic stem cell:	embryo
21	chr6:58259157-58259207	Hepatocyte	liver:	n/a
22	chr6:58259157-58259207	A549	lung:	n/a
23	chr6:58259157-58259207	Hela-S3	cervix:	n/a
24	chr6:58259157-58259207	SKMC	muscle:	n/a
25	chr6:58259157-58259207	NH-A	brain:	n/a
26	chr6:58259157-58259207	ovcar-3	ovarian:	n/a
27	chr6:58259157-58259207	GM19239	blood:	n/a
28	chr6:58259157-58259207	ProgFib	skin:	n/a
29	chr6:58259157-58259207	HPAEpiC	pulmonary alveolar:	n/a
30	chr6:58259157-58259207	GM12891	blood:	n/a
31	chr6:58259157-58259207	AG10803	skin:	n/a
32	chr6:58259157-58259207	MCF-7	breast:	n/a
33	chr6:58259157-58259207	GM12878	blood:	n/a
34	chr6:58259157-58259207	AoSMC	blood vessel:	n/a
35	chr6:58259157-58259207	SK-N-MC	brain:	n/a
36	chr6:58259157-58259207	LNCaP	prostate:	n/a
37	chr6:58259157-58259207	HRCEpiC	kidney:	n/a
38	chr6:58259157-58259207	HIPEpiC	eye:	n/a
39	chr6:58259157-58259207	ECC-1	luminal epithelium:	n/a
40	chr6:58259157-58259207	HCT-116	colon:	n/a
41	chr6:58259157-58259207	HCF	heart:	n/a
42	chr6:58259157-58259207	SAEC	small airway:	n/a
43	chr6:58259157-58259207	AG09309	skin:	n/a
44	chr6:58259157-58259207	PrEC	prostate:	n/a
45	chr6:58259157-58259207	CMK	blood:	n/a
46	chr6:58259157-58259207	MCF10A-Er-Src	breast:	n/a
47	chr6:58259157-58259207	AG04450	lung:	fetal
48	chr6:58259157-58259207	HCPEpiC	choroid plexus:	n/a
49	chr6:58259157-58259207	NHDF-neo	bronchial:	n/a
50	chr6:58259157-58259207	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
GUSBP4	TF binding region
POM121L14P	TF binding region
GUSBP4	CpG island
POM121L14P	CpG island

Extended variants
information (count: 389 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558031507	chr6:58250087-58250088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372909596	chr6:58250130-58250131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566764800	chr6:58250134-58250135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534053831	chr6:58250137-58250138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555380057	chr6:58250139-58250140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536288276	chr6:58250153-58250154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573555667	chr6:58250168-58250169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543882958	chr6:58250177-58250178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150203455	chr6:58250182-58250183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577344591	chr6:58250271-58250272	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545191574	chr6:58250303-58250304	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560353427	chr6:58250310-58250311	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369582245	chr6:58250331-58250332	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527888939	chr6:58250358-58250359	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149832211	chr6:58250378-58250379	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561444074	chr6:58250408-58250409	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531697302	chr6:58250464-58250465	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2984511	chr6:58250468-58250469	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538944718	chr6:58250504-58250505	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550226586	chr6:58250530-58250531	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571767397	chr6:58250541-58250542	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532695035	chr6:58250553-58250554	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9500243	chr6:58250570-58250571	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs566617495	chr6:58250578-58250579	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185772260	chr6:58250604-58250605	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114257288	chr6:58250618-58250619	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567481071	chr6:58250635-58250636	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199742976	chr6:58250676-58250677	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201824076	chr6:58250688-58250689	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375334946	chr6:58250689-58250690	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369547487	chr6:58250700-58250701	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555784966	chr6:58250714-58250715	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199959172	chr6:58250729-58250730	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372573683	chr6:58250730-58250731	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200909951	chr6:58250731-58250732	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553452463	chr6:58250764-58250765	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs189023379	chr6:58250767-58250768	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs542867508	chr6:58250813-58250814	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201695504	chr6:58250847-58250848	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs531959653	chr6:58250856-58250857	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs543830948	chr6:58250861-58250862	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs369831809	chr6:58250899-58250900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565240184	chr6:58250977-58250978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532555896	chr6:58250989-58250990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547886756	chr6:58251207-58251208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373451240	chr6:58251228-58251229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566059199	chr6:58251231-58251232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180911412	chr6:58251232-58251233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377267049	chr6:58251262-58251263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186142333	chr6:58251274-58251275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58237800-58253400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:58238000-58252600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr6:58238000-58252800	Weak transcription	Fetal Intestine Large	intestine
4	chr6:58243000-58250200	Weak transcription	Liver	Liver
5	chr6:58243000-58272800	Weak transcription	Fetal Intestine Small	intestine
6	chr6:58243800-58250400	Weak transcription	Primary T cells from cord blood	blood
7	chr6:58243800-58252800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:58243800-58254400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:58244000-58250200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:58244000-58250200	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:58244000-58250200	Weak transcription	Ovary	ovary
12	chr6:58244000-58250400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:58244000-58250400	Weak transcription	Fetal Lung	lung
14	chr6:58244000-58252600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:58244000-58252800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:58244000-58252800	Weak transcription	Thymus	Thymus
17	chr6:58244000-58253000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:58244000-58254600	Weak transcription	Brain Anterior Caudate	brain
19	chr6:58244000-58258600	Weak transcription	Pancreas	Pancrea
20	chr6:58244000-58272400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:58244200-58252400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:58244200-58287200	Weak transcription	Right Ventricle	heart
23	chr6:58244400-58272600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr6:58244600-58250200	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:58244600-58252600	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:58244600-58253000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr6:58244600-58254400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:58244600-58255400	Weak transcription	Brain Germinal Matrix	brain
29	chr6:58244800-58273000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:58245600-58253000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:58245800-58253200	Weak transcription	Esophagus	oesophagus
32	chr6:58245800-58261800	Weak transcription	Aorta	Aorta
33	chr6:58245800-58272400	Weak transcription	Fetal Brain Female	brain
34	chr6:58245800-58272800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:58245800-58275000	Weak transcription	Brain Angular Gyrus	brain
36	chr6:58246400-58252600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:58246400-58255600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:58246800-58254000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:58247000-58250200	Weak transcription	Gastric	stomach
40	chr6:58247200-58250200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:58247200-58272400	Weak transcription	Left Ventricle	heart
42	chr6:58247200-58273200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr6:58248000-58251200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:58248400-58251000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr6:58248600-58251000	Strong transcription	Lung	lung
46	chr6:58248800-58250200	Weak transcription	Fetal Stomach	stomach
47	chr6:58248800-58272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:58249000-58251400	Strong transcription	Adipose Nuclei	Adipose
49	chr6:58249000-58257800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr6:58249600-58250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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