Variant report

Variant	nsv965686
Chromosome Location	chr6:23852675-23857094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:23853966-23854040	GM10248	blood:	n/a	n/a
2	CTCF	chr6:23854702-23854724	Pancreas_OC	pancreas:	n/a	n/a
3	HEY1	chr6:23856942-23857052	HepG2	liver:	n/a	n/a
4	HEY1	chr6:23856913-23857095	K562	blood:	n/a	n/a
5	HEY1	chr6:23856864-23857090	HepG2	liver:	n/a	n/a
6	PAX5	chr6:23854886-23855235	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:23856926-23857063	A549	lung:	n/a	n/a
8	POLR2A	chr6:23856922-23857073	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:23856919-23857074	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:23856958-23857036	A549	lung:	n/a	n/a
11	POLR2A	chr6:23856955-23857040	A549	lung:	n/a	n/a
12	POLR2A	chr6:23856959-23857035	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:23856916-23857102	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr6:23854793-23855321	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:23856898-23857178	GM12892	blood:	n/a	n/a
16	POLR2A	chr6:23856948-23857047	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:23856934-23857065	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:23856760-23857192	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr6:23854313-23854656	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:23856730-23857199	GM12892	blood:	n/a	n/a
21	POLR2A	chr6:23856963-23857030	A549	lung:	n/a	n/a
22	POLR2A	chr6:23853450-23854001	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:23856947-23857067	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:23856937-23857058	Hela-S3	cervix:	n/a	n/a
25	POU2F2	chr6:23853584-23853935	GM12878	blood:	n/a	n/a
26	REST	chr6:23851287-23852677	H1-neurons	neurons:	n/a	n/a
27	SIN3AK20	chr6:23856943-23857040	HepG2	liver:	n/a	n/a
28	SPI1	chr6:23854989-23855220	GM12878	blood:	n/a	n/a
29	TAF1	chr6:23856907-23857075	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr6:23856924-23857071	Hela-S3	cervix:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:23854555-23854605	AoSMC	blood vessel:	n/a
2	chr6:23854494-23854544	HL-60	blood:	n/a
3	chr6:23854555-23854605	GM12891	blood:	n/a
4	chr6:23854494-23854544	Caco-2	colon:	n/a
5	chr6:23854222-23854272	SK-N-MC	brain:	n/a
6	chr6:23854222-23854272	NB4	blood:	n/a
7	chr6:23854222-23854272	HEK293	kidney:	embryo
8	chr6:23854555-23854605	Jurkat	blood:	n/a
9	chr6:23854494-23854544	Hepatocyte	liver:	n/a
10	chr6:23854555-23854605	GM12892	blood:	n/a
11	chr6:23854494-23854544	NB4	blood:	n/a
12	chr6:23854222-23854272	RPTEC	kidney:	n/a
13	chr6:23854222-23854272	HUVEC	blood vessel:	n/a
14	chr6:23854494-23854544	NH-A	brain:	n/a
15	chr6:23854222-23854272	SK-N-SH_RA	brain:	n/a
16	chr6:23854494-23854544	GM06990	blood:	n/a
17	chr6:23854494-23854544	AG04450	lung:	fetal
18	chr6:23854555-23854605	Caco-2	colon:	n/a
19	chr6:23854555-23854605	A549	lung:	n/a
20	chr6:23854222-23854272	Caco-2	colon:	n/a
21	chr6:23854494-23854544	ovcar-3	ovarian:	n/a
22	chr6:23854222-23854272	AG04449	skin:	fetal
23	chr6:23854494-23854544	ECC-1	luminal epithelium:	n/a
24	chr6:23854222-23854272	Hepatocyte	liver:	n/a
25	chr6:23854494-23854544	AG09309	skin:	n/a
26	chr6:23854555-23854605	HL-60	blood:	n/a
27	chr6:23854222-23854272	HPAEpiC	pulmonary alveolar:	n/a
28	chr6:23854494-23854544	NHDF-neo	bronchial:	n/a
29	chr6:23854222-23854272	HCT-116	colon:	n/a
30	chr6:23854555-23854605	HCF	heart:	n/a
31	chr6:23854555-23854605	SAEC	small airway:	n/a
32	chr6:23854555-23854605	BJ	skin:	n/a
33	chr6:23854494-23854544	HEK293	kidney:	embryo
34	chr6:23854494-23854544	AG04449	skin:	fetal
35	chr6:23854555-23854605	HCPEpiC	choroid plexus:	n/a
36	chr6:23854555-23854605	GM12878	blood:	n/a
37	chr6:23854222-23854272	HAEpiC	amniotic membrane:	n/a
38	chr6:23854494-23854544	AG09319	gingival:	n/a
39	chr6:23854555-23854605	SK-N-MC	brain:	n/a
40	chr6:23854494-23854544	PrEC	prostate:	n/a
41	chr6:23854494-23854544	HRCEpiC	kidney:	n/a
42	chr6:23854222-23854272	BJ	skin:	n/a
43	chr6:23854494-23854544	MCF10A-Er-Src	breast:	n/a
44	chr6:23854494-23854544	HIPEpiC	eye:	n/a
45	chr6:23854494-23854544	LNCaP	prostate:	n/a
46	chr6:23854222-23854272	NHDF-neo	bronchial:	n/a
47	chr6:23854555-23854605	IMR90	lung:	fetal
48	chr6:23854494-23854544	GM12892	blood:	n/a
49	chr6:23854555-23854605	SK-N-SH_RA	brain:	n/a
50	chr6:23854494-23854544	SAEC	small airway:	n/a

No data

Variant related genes	Relation type
SPTLC1P2	TF binding region
SPTLC1P2	CpG island

Extended variants
information (count: 61 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370749455	chr6:23855607-23855608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs140454130	chr6:23855623-23855624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs185117667	chr6:23855646-23855647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs574597706	chr6:23855669-23855670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs560609079	chr6:23855681-23855682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs565330377	chr6:23855682-23855683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs541687158	chr6:23855688-23855689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs560279984	chr6:23855709-23855710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs1276935	chr6:23855712-23855713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs527434958	chr6:23855713-23855714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs116725443	chr6:23855724-23855725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs563748287	chr6:23855759-23855760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs368064102	chr6:23855769-23855770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs531173691	chr6:23855773-23855774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs550882212	chr6:23855774-23855775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs569476942	chr6:23855784-23855785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs370430222	chr6:23855785-23855786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs548537678	chr6:23855807-23855808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs567048085	chr6:23855847-23855848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs189031044	chr6:23855856-23855857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs559055783	chr6:23855864-23855865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs543062925	chr6:23855872-23855873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs116291713	chr6:23855874-23855875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs538217629	chr6:23855879-23855880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs113213163	chr6:23855881-23855882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs117265251	chr6:23855882-23855883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs550628894	chr6:23855901-23855902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs2764064	chr6:23855909-23855910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs569117503	chr6:23855911-23855912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs542098769	chr6:23855912-23855913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs182077259	chr6:23855917-23855918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs186363353	chr6:23855918-23855919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs545508934	chr6:23855926-23855927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs532804421	chr6:23855945-23855946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs140763170	chr6:23855951-23855952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs543046403	chr6:23855966-23855967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs561713986	chr6:23855967-23855968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs111391120	chr6:23855985-23855986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs188411892	chr6:23855994-23855995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs530375537	chr6:23855997-23855998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs201255063	chr6:23856001-23856002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530970317	chr6:23856024-23856025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566963738	chr6:23856025-23856026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527856691	chr6:23856031-23856032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114685548	chr6:23856065-23856066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570987841	chr6:23856106-23856107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75579638	chr6:23856107-23856108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386698049	chr6:23856109-23856110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142686307	chr6:23856110-23856111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568439349	chr6:23856138-23856139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23855600-23856000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:23856000-23856200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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