Variant report

Variant	nsv823827
Chromosome Location	chr6:114781349-114813916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:114808463-114808511	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr6:114805321-114805421	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr6:114792843-114792916	GM10248	blood:	n/a	n/a
4	E2F4	chr6:114787028-114787153	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr6:114793248-114793415	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr6:114802882-114802904	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr6:114796103-114796354	MCF10A-Er-Src	breast:	n/a	n/a
8	ELK4	chr6:114807131-114807225	HEK293	kidney:	n/a	n/a
9	FOS	chr6:114792575-114792819	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr6:114789154-114789354	MCF10A-Er-Src	breast:	n/a	n/a
11	FOXP2	chr6:114787228-114787628	SK-N-MC	brain:	n/a	n/a
12	GATA2	chr6:114794812-114795167	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr6:114813259-114813417	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr6:114802001-114802381	SH-SY5Y	brain:	n/a	chr6:114802034-114802050 chr6:114802034-114802050 chr6:114802038-114802047 chr6:114802351-114802367
15	JUND	chr6:114792691-114792829	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAFK	chr6:114794303-114794353	HepG2	liver:	n/a	chr6:114794320-114794340 chr6:114794328-114794342
17	MAZ	chr6:114792893-114792962	HepG2	liver:	n/a	n/a
18	MYC	chr6:114795107-114795222	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr6:114796534-114796574	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr6:114808175-114808197	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr6:114790410-114790583	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr6:114795820-114795824	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:114801981-114802181	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr6:114808698-114808811	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr6:114783141-114783155	MCF-7	breast:	n/a	n/a
26	POLR2A	chr6:114786213-114786228	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr6:114783162-114783187	MCF-7	breast:	n/a	n/a
28	POLR2A	chr6:114792637-114792688	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:114796647-114796721	H1-hESC	embryonic stem cell:	n/a	n/a
30	STAT1	chr6:114791578-114791642	GM12878	blood:	n/a	n/a
31	STAT3	chr6:114811970-114812072	MCF10A-Er-Src	breast:	n/a	chr6:114812048-114812059
32	STAT3	chr6:114809960-114810160	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr6:114781710-114781903	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr6:114802369-114802569	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr6:114813629-114813829	MCF10A-Er-Src	breast:	n/a	chr6:114813742-114813749
36	USF1	chr6:114794891-114795138	H1-hESC	embryonic stem cell:	n/a	n/a
37	USF1	chr6:114794862-114795143	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZNF143	chr6:114807333-114807338	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114810855..114812867-chr6:114817060..114819585,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HS3ST5-1	chr6:114809752-114809916	XLOC_005812
2	lnc-MARCKS-5	chr6:114790310-114790463	ENSG00000228624
3	lnc-MARCKS-5	chr6:114789659-114789775	ENSG00000228624
4	lnc-HS3ST5-2	chr6:114809761-114809913	NONHSAT114617
5	lnc-HS3ST5-1	chr6:114798514-114798670	XLOC_005812
6	lnc-MARCKS-5	chr6:114789659-114789738	ENSG00000228624
7	lnc-HS3ST5-1	chr6:114809752-114809845	XLOC_005812
8	lnc-HS3ST5-1	chr6:114802589-114803209	XLOC_005812
9	lnc-MARCKS-5	chr6:114792579-114792869	ENSG00000228624

No data

Variant related genes	Relation type
ENSG00000232395	TF binding region
HMGN2	miRNA target sites
TMEM41A	miRNA target sites
ZNF638	miRNA target sites
HN1L	miRNA target sites
CHRAC1	miRNA target sites

Extended variants
information (count: 672 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555953172	chr6:114781394-114781395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574272529	chr6:114781404-114781405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146300839	chr6:114781415-114781416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562977117	chr6:114781441-114781442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537277321	chr6:114781450-114781451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113454558	chr6:114781508-114781509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191393734	chr6:114781509-114781510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563086593	chr6:114781510-114781511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545350923	chr6:114781519-114781520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564244963	chr6:114781540-114781541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386704989	chr6:114781559-114781560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201747211	chr6:114781604-114781605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375087747	chr6:114781610-114781611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546398584	chr6:114781615-114781616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567955771	chr6:114781666-114781667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529031926	chr6:114781725-114781726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150057910	chr6:114781742-114781743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568923232	chr6:114781779-114781780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116251851	chr6:114781811-114781812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377176278	chr6:114781883-114781884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557686923	chr6:114781955-114781956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73771316	chr6:114781957-114781958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566928884	chr6:114781979-114781980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534534560	chr6:114781985-114781986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144406648	chr6:114782057-114782058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574333733	chr6:114782073-114782074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544783898	chr6:114782146-114782147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556393046	chr6:114782184-114782185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578011198	chr6:114782185-114782186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553247536	chr6:114782198-114782199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200905174	chr6:114782199-114782200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545095051	chr6:114782205-114782206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574518680	chr6:114782218-114782219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148763369	chr6:114782229-114782230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369120432	chr6:114782230-114782231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527662782	chr6:114782268-114782269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9488402	chr6:114782290-114782291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540164216	chr6:114782330-114782331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13191722	chr6:114782400-114782401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs552735986	chr6:114782441-114782442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183450546	chr6:114782464-114782465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187940316	chr6:114782481-114782482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79153067	chr6:114782484-114782485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533014517	chr6:114782529-114782530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551102294	chr6:114782574-114782575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566504371	chr6:114782609-114782610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533770010	chr6:114782630-114782631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549739598	chr6:114782693-114782694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191158165	chr6:114782747-114782748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538060355	chr6:114782769-114782770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Acute myeloid leukemia	19651600	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114771200-114783200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:114775800-114784200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:114778800-114793000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:114782200-114782600	Enhancers	Brain Hippocampus Middle	brain
5	chr6:114789400-114789800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:114791800-114792400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:114792400-114792600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr6:114792600-114793200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:114792600-114793200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:114792600-114793200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:114792600-114793400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:114792600-114795000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:114792800-114793200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:114792800-114793200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:114792800-114793200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:114793000-114794200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:114793200-114793800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:114793200-114794600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:114794600-114795000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:114795000-114795200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr6:114795000-114795200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:114801000-114801800	Enhancers	Fetal Brain Male	brain
23	chr6:114811200-114811600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:114811800-114812200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:114812000-114812200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr6:114812400-114816600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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