Variant report

Variant	nsv965739
Chromosome Location	chr6:64286427-64287045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr6:64286298-64286694	K562	blood:	n/a	n/a
2	HEY1	chr6:64286226-64286773	HepG2	liver:	n/a	n/a
3	MAX	chr6:64286395-64286564	A549	lung:	n/a	n/a
4	POLR2A	chr6:64286531-64286621	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:64287013-64287309	K562	blood:	n/a	n/a
6	POLR2A	chr6:64286737-64287116	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr6:64281149-64296791	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr6:64286253-64286894	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:64286456-64286487	MCF-7	breast:	n/a	n/a
10	POLR2A	chr6:64280395-64286526	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr6:64286145-64286450	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:64286108-64295377	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr6:64286119-64287724	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:64286257-64286694	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr6:64286456-64286621	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr6:64286632-64286665	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr6:64286143-64287464	K562	blood:	n/a	n/a
18	POLR2A	chr6:64286136-64287716	A549	lung:	n/a	n/a
19	POLR2A	chr6:64286938-64287678	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:64285885-64288231	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr6:64286278-64286638	GM12892	blood:	n/a	n/a
22	POLR2A	chr6:64286122-64295957	HepG2	liver:	n/a	n/a
23	POLR2A	chr6:64286308-64286571	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr6:64286643-64286646	MCF-7	breast:	n/a	n/a
25	POLR2A	chr6:64286960-64287434	HCT-116	colon:	n/a	n/a
26	POLR2A	chr6:64287010-64287620	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:64286293-64286697	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:64286412-64286436	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr6:64286892-64286915	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:64286321-64286514	HCT-116	colon:	n/a	n/a
31	POLR2A	chr6:64286963-64287724	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr6:64285988-64287716	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:64286113-64286918	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:64286289-64286663	HepG2	liver:	n/a	n/a
35	POLR2A	chr6:64286338-64286602	HepG2	liver:	n/a	n/a
36	POLR2A	chr6:64286276-64286697	HCT-116	colon:	n/a	n/a
37	POLR2A	chr6:64286513-64286518	MCF-7	breast:	n/a	n/a
38	REST	chr6:64286330-64286592	Hela-S3	cervix:	n/a	n/a
39	SIN3AK20	chr6:64286357-64286643	H1-hESC	embryonic stem cell:	n/a	n/a
40	SMC3	chr6:64286373-64286466	Hela-S3	cervix:	n/a	n/a
41	SP1	chr6:64286163-64286969	H1-hESC	embryonic stem cell:	n/a	n/a
42	WRNIP1	chr6:64286434-64286579	GM12878	blood:	n/a	n/a
43	ZMIZ1	chr6:64286440-64286443	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:64286415-64286465	GM12891	blood:	n/a
2	chr6:64286868-64286918	HEK293	kidney:	embryo
3	chr6:64286415-64286465	AG10803	skin:	n/a
4	chr6:64286868-64286918	NHDF-neo	bronchial:	n/a
5	chr6:64286868-64286918	HNPCEpiC	eye:	n/a
6	chr6:64286415-64286465	NT2-D1	testis:	n/a
7	chr6:64286415-64286465	A549	lung:	n/a
8	chr6:64286868-64286918	NH-A	brain:	n/a
9	chr6:64286868-64286918	SK-N-SH	brain:	n/a
10	chr6:64286415-64286465	SK-N-SH	brain:	n/a
11	chr6:64286415-64286465	HAEpiC	amniotic membrane:	n/a
12	chr6:64286868-64286918	HIPEpiC	eye:	n/a
13	chr6:64286868-64286918	PFSK-1	brain:	n/a
14	chr6:64286868-64286918	T-47D	breast:	n/a
15	chr6:64286415-64286465	GM06990	blood:	n/a
16	chr6:64286415-64286465	HEEpiC	esophagus:	n/a
17	chr6:64286868-64286918	SK-N-SH_RA	brain:	n/a
18	chr6:64286868-64286918	AG10803	skin:	n/a
19	chr6:64286868-64286918	HepG2	liver:	n/a
20	chr6:64286415-64286465	HRE	kidney:	n/a
21	chr6:64286415-64286465	PrEC	prostate:	n/a
22	chr6:64286415-64286465	NH-A	brain:	n/a
23	chr6:64286868-64286918	HMEC	breast:	n/a
24	chr6:64286868-64286918	A549	lung:	n/a
25	chr6:64286415-64286465	ovcar-3	ovarian:	n/a
26	chr6:64286868-64286918	HL-60	blood:	n/a
27	chr6:64286868-64286918	BE2_C	brain:	n/a
28	chr6:64286415-64286465	NHBE	bronchial:	n/a
29	chr6:64286868-64286918	RPTEC	kidney:	n/a
30	chr6:64286868-64286918	SKMC	muscle:	n/a
31	chr6:64286415-64286465	ECC-1	luminal epithelium:	n/a
32	chr6:64286415-64286465	HCM	heart:	n/a
33	chr6:64286868-64286918	NHBE	bronchial:	n/a
34	chr6:64286868-64286918	HPAEpiC	pulmonary alveolar:	n/a
35	chr6:64286415-64286465	HCF	heart:	n/a
36	chr6:64286415-64286465	LNCaP	prostate:	n/a
37	chr6:64286415-64286465	HL-60	blood:	n/a
38	chr6:64286868-64286918	AG04449	skin:	fetal
39	chr6:64286415-64286465	SKMC	muscle:	n/a
40	chr6:64286868-64286918	GM19239	blood:	n/a
41	chr6:64286415-64286465	HPAEpiC	pulmonary alveolar:	n/a
42	chr6:64286415-64286465	AG09319	gingival:	n/a
43	chr6:64286415-64286465	H1-hESC	embryonic stem cell:	embryo
44	chr6:64286415-64286465	AG04450	lung:	fetal
45	chr6:64286415-64286465	HUVEC	blood vessel:	n/a
46	chr6:64286868-64286918	NT2-D1	testis:	n/a
47	chr6:64286415-64286465	AoSMC	blood vessel:	n/a
48	chr6:64286868-64286918	GM12878	blood:	n/a
49	chr6:64286868-64286918	K562	blood:	n/a
50	chr6:64286415-64286465	PANC-1	pancreas:	n/a

No data

Variant related genes	Relation type
ENSG00000266680	TF binding region
ENSG00000266680	CpG island

Extended variants
information (count: 25 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554251885	chr6:64286487-64286488	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs572403109	chr6:64286521-64286522	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs544837816	chr6:64286621-64286622	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs536469663	chr6:64286626-64286627	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs115603990	chr6:64286642-64286643	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs576282235	chr6:64286644-64286645	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs543785226	chr6:64286659-64286660	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs565167825	chr6:64286688-64286689	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs575114108	chr6:64286696-64286697	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs576914099	chr6:64286704-64286705	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2758260	chr6:64286718-64286719	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs540620817	chr6:64286742-64286743	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs559418246	chr6:64286756-64286757	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs371837650	chr6:64286830-64286831	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs144613027	chr6:64286851-64286852	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs529722832	chr6:64286868-64286869	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs548254910	chr6:64286869-64286870	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs376423935	chr6:64286896-64286897	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs543945371	chr6:64286921-64286922	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs201234588	chr6:64286930-64286931	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs372864450	chr6:64286938-64286939	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs542556466	chr6:64286941-64286942	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs2075656	chr6:64286985-64286986	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191239938	chr6:64287025-64287026	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs2734857	chr6:64287029-64287030	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	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
Lung cancer	18438408	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64284000-64294000	Weak transcription	Spleen	Spleen
2	chr6:64284000-64297200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:64284200-64287400	Weak transcription	Pancreas	Pancrea
4	chr6:64284200-64289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:64284200-64294200	Weak transcription	Gastric	stomach
6	chr6:64284200-64294400	Weak transcription	Lung	lung
7	chr6:64284400-64287000	Weak transcription	Left Ventricle	heart
8	chr6:64284400-64289400	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:64284400-64289600	Weak transcription	Esophagus	oesophagus
10	chr6:64284400-64292600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:64284400-64294400	Weak transcription	Aorta	Aorta
12	chr6:64284400-64296200	Weak transcription	Ovary	ovary
13	chr6:64284600-64286800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:64284600-64287000	Weak transcription	Brain Substantia Nigra	brain
15	chr6:64284600-64287000	Enhancers	Fetal Brain Male	brain
16	chr6:64284600-64289600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:64284600-64289600	Weak transcription	Thymus	Thymus
18	chr6:64284600-64292000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:64284600-64294800	Weak transcription	Right Ventricle	heart
20	chr6:64284800-64307600	Weak transcription	Fetal Stomach	stomach
21	chr6:64285000-64289200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:64285000-64294800	Weak transcription	Stomach Mucosa	stomach
23	chr6:64285200-64286600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr6:64285200-64287600	Transcr. at gene 5' and 3'	Liver	Liver
25	chr6:64285400-64289600	Weak transcription	Brain Angular Gyrus	brain
26	chr6:64285400-64289600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr6:64285400-64293600	Weak transcription	Fetal Heart	heart
28	chr6:64285400-64294600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:64285600-64286600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:64285600-64287000	Active TSS	GM12878-XiMat	blood
31	chr6:64285600-64287200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:64285600-64287200	Genic enhancers	Dnd41	blood
33	chr6:64285600-64291600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:64285600-64292800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:64285600-64295800	Weak transcription	Fetal Intestine Small	intestine
36	chr6:64285800-64293000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:64286000-64286600	Genic enhancers	NH-A	brain
38	chr6:64286000-64287200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:64286000-64292800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr6:64286200-64286600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:64286200-64286600	Genic enhancers	Adipose Nuclei	Adipose
42	chr6:64286200-64286600	Genic enhancers	Brain Hippocampus Middle	brain
43	chr6:64286200-64286600	Flanking Active TSS	Psoas Muscle	Psoas
44	chr6:64286200-64286600	Genic enhancers	HMEC	breast
45	chr6:64286200-64286600	Transcr. at gene 5' and 3'	NHEK	skin
46	chr6:64286200-64286800	Genic enhancers	Brain Germinal Matrix	brain
47	chr6:64286200-64287000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:64286200-64287000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
49	chr6:64286200-64287200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:64286200-64287200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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