Variant report

Variant	nsv981304
Chromosome Location	chr6:68642360-68647148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:68644828-68644901	K562	blood:	n/a	n/a
2	ATF1	chr6:68646044-68646267	K562	blood:	n/a	n/a
3	BHLHE40	chr6:68643206-68643522	K562	blood:	n/a	n/a
4	CTCF	chr6:68643245-68643442	GM19238	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
5	CTCF	chr6:68643277-68643461	K562	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
6	CTCF	chr6:68643340-68643490	GM12865	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
7	CTCF	chr6:68643260-68643410	HBMEC	blood vessel:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
8	CTCF	chr6:68643340-68643490	GM06990	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
9	CTCF	chr6:68643210-68643482	H1-hESC	embryonic stem cell:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
10	CTCF	chr6:68643254-68643429	MCF-7	breast:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
11	CTCF	chr6:68643280-68643430	AG04449	skin:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
12	CTCF	chr6:68643230-68643487	Gliobla	brain:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
13	CTCF	chr6:68643313-68643428	Hela-S3	cervix:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
14	CTCF	chr6:68643320-68643470	BE2_C	brain:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
15	CTCF	chr6:68643167-68643561	MCF-7	breast:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
16	CTCF	chr6:68643042-68643554	K562	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
17	CTCF	chr6:68643256-68643448	GM12892	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
18	CTCF	chr6:68643274-68643451	GM10266	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
19	CTCF	chr6:68643240-68643390	K562	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
20	CTCF	chr6:68643240-68643390	HEEpiC	esophagus:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
21	CTCF	chr6:68643200-68643350	GM12878	blood:	n/a	n/a
22	CTCF	chr6:68643269-68643460	ProgFib	skin:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
23	CTCF	chr6:68643320-68643470	HCM	heart:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
24	CTCF	chr6:68643300-68643450	GM12870	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
25	CTCF	chr6:68643248-68643440	MCF-7	breast:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
26	CTCF	chr6:68643233-68643492	MCF-7	breast:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
27	CTCF	chr6:68643340-68643490	HCFaa	heart:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
28	CTCF	chr6:68643230-68643430	GM12891	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
29	CTCF	chr6:68643280-68643430	K562	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
30	CTCF	chr6:68643291-68643443	HepG2	liver:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
31	CTCF	chr6:68643300-68643450	GM12868	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
32	CTCF	chr6:68643260-68643410	AG09319	gingival:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
33	CTCF	chr6:68643283-68643444	GM19239	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
34	CTCF	chr6:68643280-68643430	HEK293	kidney:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
35	CTCF	chr6:68643199-68643492	H1-hESC	embryonic stem cell:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
36	CTCF	chr6:68643240-68643390	GM12864	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
37	CTCF	chr6:68643260-68643410	GM12874	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
38	CTCF	chr6:68643320-68643470	Hela-S3	cervix:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
39	CTCF	chr6:68643280-68643430	GM12864	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
40	CTCF	chr6:68643259-68643478	GM13977	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
41	CTCF	chr6:68643300-68643450	GM12875	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
42	CTCF	chr6:68643320-68643470	GM12875	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
43	CTCF	chr6:68643237-68643446	MCF-7	breast:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
44	CTCF	chr6:68643300-68643450	HA-sp	spinal cord:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
45	CTCF	chr6:68643300-68643450	HCPEpiC	choroid plexus:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
46	CTCF	chr6:68643291-68643456	LNCaP	prostate:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
47	CTCF	chr6:68643320-68643470	HEEpiC	esophagus:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
48	CTCF	chr6:68643300-68643450	GM12874	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
49	CTCF	chr6:68643260-68643410	WERI-Rb-1	eye:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
50	CTCF	chr6:68643300-68643450	GM12872	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383

No.	Distal block	Cell Line	Cell type
1	chr6:68638959..68641305-chr6:68644421..68646121,2	K562	blood:
2	chr6:68593993..68599943-chr6:68645870..68650491,8	K562	blood:
3	chr6:68597581..68600256-chr6:68643014..68644581,2	K562	blood:
4	chr6:68645739..68648666-chr6:68691801..68693521,2	K562	blood:
5	chr6:68642346..68643318-chr6:68935421..68936071,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAI3-7	chr6:68643377-68644574	NONHSAT113392

Variant related genes	Relation type
ENSG00000270509	TF binding region
ENSG00000227706	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74714978	chr6:68642376-68642377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78076099	chr6:68642377-68642378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76536896	chr6:68642379-68642380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80240679	chr6:68642381-68642382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551464672	chr6:68642392-68642393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9346099	chr6:68642421-68642422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560167097	chr6:68642474-68642475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547745308	chr6:68642538-68642539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186438426	chr6:68642547-68642548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536236089	chr6:68642565-68642566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12208889	chr6:68642621-68642622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556233215	chr6:68642651-68642652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576200786	chr6:68642679-68642680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148227525	chr6:68642682-68642683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558637276	chr6:68642729-68642730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9445946	chr6:68642745-68642746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541250734	chr6:68642792-68642793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571142246	chr6:68642806-68642807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191740330	chr6:68642827-68642828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141242279	chr6:68642863-68642864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369670599	chr6:68642897-68642898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562496928	chr6:68642912-68642913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531607915	chr6:68642927-68642928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374435986	chr6:68642930-68642931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150775120	chr6:68642945-68642946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17452165	chr6:68642957-68642958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs527859422	chr6:68642972-68642973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181619213	chr6:68642973-68642974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567851290	chr6:68643031-68643032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536989552	chr6:68643064-68643065	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs550496689	chr6:68643076-68643077	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs541872860	chr6:68643106-68643107	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs139720001	chr6:68643115-68643116	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs558349423	chr6:68643128-68643129	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs11758211	chr6:68643130-68643131	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534511623	chr6:68643132-68643133	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs9363824	chr6:68643234-68643235	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574295697	chr6:68643243-68643244	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs112262682	chr6:68643263-68643264	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs556854078	chr6:68643330-68643331	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs575999923	chr6:68643385-68643386	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs545028361	chr6:68643388-68643389	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs143732466	chr6:68643433-68643434	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs527823194	chr6:68643516-68643517	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs111785114	chr6:68643560-68643561	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs186306421	chr6:68643590-68643591	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs147230677	chr6:68643602-68643603	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs190769329	chr6:68643611-68643612	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs546247428	chr6:68643619-68643620	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs532132663	chr6:68643625-68643626	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
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
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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68641200-68646000	Weak transcription	K562	blood
2	chr6:68646000-68646400	Enhancers	K562	blood

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