Variant report

Variant	nsv969312
Chromosome Location	chr6:80260238-80263042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr6:80260448-80260449	K562	blood:	n/a	n/a
2	EP300	chr6:80262685-80263019	HepG2	liver:	n/a	n/a
3	FOXA1	chr6:80262648-80262993	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:80260317-80260515	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr6:80261601-80261852	HepG2	liver:	n/a	n/a
6	TAL1	chr6:80261185-80261383	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:80246209..80248851-chr6:80258293..80260722,2	K562	blood:
2	chr6:80259226..80262353-chr6:80262430..80266718,3	K562	blood:
3	chr6:79786657..79788445-chr6:80262808..80265687,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3BGRL2-7	chr6:80262511-80262877	NONHSAT113705

No data

Variant related genes	Relation type
ENSG00000261970	TF binding region
ENSG00000146247	chromatin interactions
ENSG00000135338	chromatin interactions
ENSG00000261970	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7771276	chr6:80260240-80260241	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72901825	chr6:80260277-80260278	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539291214	chr6:80260304-80260305	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527383086	chr6:80260316-80260317	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs541094974	chr6:80260381-80260382	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs552780503	chr6:80260385-80260386	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547613924	chr6:80260449-80260450	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs145124999	chr6:80260462-80260463	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs533314590	chr6:80260475-80260476	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs188521305	chr6:80260486-80260487	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs146873785	chr6:80260496-80260497	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs535849668	chr6:80260516-80260517	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555464242	chr6:80260520-80260521	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559509596	chr6:80260524-80260525	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566224032	chr6:80260528-80260529	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs76195962	chr6:80260567-80260568	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs558251960	chr6:80260589-80260590	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs527873860	chr6:80260591-80260592	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs140701937	chr6:80260633-80260634	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs545636831	chr6:80260650-80260651	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs145896827	chr6:80260656-80260657	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs369919943	chr6:80260677-80260678	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs10223566	chr6:80260681-80260682	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546450119	chr6:80260767-80260768	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564768677	chr6:80260768-80260769	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs148076115	chr6:80260772-80260773	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs561506764	chr6:80260778-80260779	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571844673	chr6:80260805-80260806	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540742084	chr6:80260869-80260870	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141860964	chr6:80260927-80260928	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533351329	chr6:80260928-80260929	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150217805	chr6:80260940-80260941	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564046991	chr6:80260941-80260942	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529556269	chr6:80260970-80260971	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532072490	chr6:80260974-80260975	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138829821	chr6:80261031-80261032	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113327457	chr6:80261047-80261048	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs191797583	chr6:80261079-80261080	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs534989887	chr6:80261092-80261093	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551911068	chr6:80261100-80261101	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs149505643	chr6:80261110-80261111	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539660502	chr6:80261145-80261146	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10543931	chr6:80261156-80261157	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368760644	chr6:80261157-80261158	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs185079512	chr6:80261170-80261171	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10223324	chr6:80261243-80261244	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2803175	chr6:80261251-80261252	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs369325661	chr6:80261293-80261294	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571729248	chr6:80261349-80261350	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113020817	chr6:80261397-80261398	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80247600-80267800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:80248000-80262000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:80248600-80262800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:80248600-80262800	Weak transcription	Liver	Liver
5	chr6:80248800-80262000	Weak transcription	Psoas Muscle	Psoas
6	chr6:80248800-80272000	Weak transcription	Ovary	ovary
7	chr6:80249400-80262200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:80254400-80262200	Weak transcription	Placenta	Placenta
9	chr6:80254400-80267800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:80254400-80271400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:80254400-80273000	Weak transcription	Left Ventricle	heart
12	chr6:80254600-80273800	Weak transcription	Stomach Mucosa	stomach
13	chr6:80254800-80262000	Weak transcription	Right Ventricle	heart
14	chr6:80255000-80261600	Weak transcription	HepG2	liver
15	chr6:80255000-80280000	Weak transcription	Aorta	Aorta
16	chr6:80255200-80262600	Weak transcription	Fetal Brain Male	brain
17	chr6:80255200-80264800	Weak transcription	Fetal Heart	heart
18	chr6:80255200-80267800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:80255400-80261600	Weak transcription	NHLF	lung
20	chr6:80255600-80262200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:80255600-80264800	Weak transcription	Fetal Intestine Large	intestine
22	chr6:80255600-80279400	Weak transcription	HMEC	breast
23	chr6:80255600-80280000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:80255800-80275400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:80256000-80260600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:80256000-80261400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:80256000-80262400	Weak transcription	HSMMtube	muscle
28	chr6:80256000-80263400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:80256000-80263800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:80256000-80263800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:80256000-80280600	Weak transcription	Adipose Nuclei	Adipose
32	chr6:80256200-80260400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:80256200-80261800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:80256200-80264000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:80256200-80266600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr6:80256400-80260400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:80256400-80261800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:80256400-80262000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:80256400-80262000	Weak transcription	HUVEC	blood vessel
40	chr6:80256400-80262200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr6:80256400-80263800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:80256400-80263800	Weak transcription	Brain Angular Gyrus	brain
43	chr6:80256400-80264000	Weak transcription	Brain Substantia Nigra	brain
44	chr6:80256400-80264200	Weak transcription	Osteobl	bone
45	chr6:80256400-80267200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr6:80256400-80267600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:80256600-80262200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:80256800-80260800	Strong transcription	HSMM	muscle
49	chr6:80257000-80262000	Weak transcription	Colon Smooth Muscle	Colon
50	chr6:80257200-80268600	Weak transcription	Spleen	Spleen

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