Variant report

Variant	esv3396726
Chromosome Location	chr5:42734244-42752824
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	chr5:42734374-42734463	K562	blood:	n/a	n/a
2	CTCF	chr5:42745640-42745790	HMF	breast:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
3	CTCF	chr5:42745655-42745702	GM13976	blood:	n/a	n/a
4	CTCF	chr5:42745623-42745800	MCF-7	breast:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
5	CTCF	chr5:42745642-42745762	SK-N-SH_RA	brain:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
6	CTCF	chr5:42745640-42745790	AG09319	gingival:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
7	CTCF	chr5:42745680-42745830	NHEK	skin:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
8	CTCF	chr5:42745640-42745790	HMEC	breast:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
9	CTCF	chr5:42745640-42745790	BJ	skin:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
10	CTCF	chr5:42745660-42745810	AG09319	gingival:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
11	CTCF	chr5:42745640-42745790	AG04449	skin:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
12	CTCF	chr5:42745620-42745770	GM12874	blood:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
13	CTCF	chr5:42745640-42745790	HBMEC	blood vessel:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
14	CTCF	chr5:42745563-42745873	IMR90	lung:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
15	CTCF	chr5:42745666-42745777	MCF-7	breast:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
16	CTCF	chr5:42745640-42745790	HUVEC	blood vessel:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
17	CTCF	chr5:42745629-42745797	H1-hESC	embryonic stem cell:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
18	CTCF	chr5:42745660-42745810	HEEpiC	esophagus:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
19	CTCF	chr5:42745636-42745796	GM19239	blood:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
20	CTCF	chr5:42745600-42745750	GM12865	blood:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
21	CTCF	chr5:42745630-42745829	ProgFib	skin:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
22	CTCF	chr5:42745580-42745730	GM12870	blood:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
23	CTCF	chr5:42752377-42752640	K562	blood:	n/a	n/a
24	CTCF	chr5:42745640-42745790	GM12864	blood:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
25	CTCF	chr5:42745660-42745810	HPAF	blood vessel:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
26	CTCF	chr5:42745458-42745993	K562	blood:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
27	CTCF	chr5:42745640-42745790	A549	lung:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
28	CTCF	chr5:42745660-42745810	HAc	cerebellar:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
29	CTCF	chr5:42745578-42745852	K562	blood:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
30	CTCF	chr5:42745620-42745770	HRE	kidney:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
31	CTCF	chr5:42745640-42745790	HVMF	connective:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
32	CTCF	chr5:42745620-42745770	AG04449	skin:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
33	CTCF	chr5:42745640-42745790	AoAF	blood vessel:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
34	CTCF	chr5:42745615-42745818	NHEK	skin:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
35	CTCF	chr5:42745600-42745750	GM12869	blood:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
36	CTCF	chr5:42745640-42745790	HCPEpiC	choroid plexus:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
37	CTCF	chr5:42745580-42745730	HEEpiC	esophagus:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
38	CTCF	chr5:42745600-42745750	HCT-116	colon:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
39	CTCF	chr5:42745640-42745790	NHLF	lung:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
40	CTCF	chr5:42745620-42745770	HA-sp	spinal cord:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
41	CTCF	chr5:42745620-42745770	HVMF	connective:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
42	CTCF	chr5:42745840-42745990	GM12872	blood:	n/a	n/a
43	CTCF	chr5:42745640-42745790	NHDF-neo	bronchial:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
44	CTCF	chr5:42745531-42745903	GM12878	blood:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
45	CTCF	chr5:42745580-42745730	HRPEpiC	eye:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
46	CTCF	chr5:42745620-42745770	AoAF	blood vessel:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
47	CTCF	chr5:42745620-42745770	AG09309	skin:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
48	CTCF	chr5:42745560-42745791	SK-N-SH_RA	brain:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
49	CTCF	chr5:42745656-42745791	LNCaP	prostate:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724
50	CTCF	chr5:42745620-42745770	HCT-116	colon:	n/a	chr5:42745702-42745718 chr5:42745701-42745719 chr5:42745703-42745724

No.	Distal block	Cell Line	Cell type
1	chr5:42731244..42732814-chr5:42751602..42753126,2	K562	blood:
2	chr5:42750297..42751122-chr8:129091176..129091889,2	MCF-7	breast:
3	chr5:42741787..42743927-chr5:42747329..42750299,3	K562	blood:
4	chr5:42741787..42743927-chr5:42747329..42750299,3	K562	blood:
5	chr5:42745610..42746111-chr5:42889125..42890106,2	K562	blood:
6	chr5:42745300..42747816-chr5:42751954..42754501,2	K562	blood:
7	chr5:42745300..42747816-chr5:42751954..42754501,2	K562	blood:

Variant related genes	Relation type
CCDC152	TF binding region

Extended variants
information (count: 259 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4866794	chr5:42734247-42734248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575983827	chr5:42734263-42734264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148035786	chr5:42734321-42734322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558076908	chr5:42734329-42734330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576318949	chr5:42734349-42734350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112428105	chr5:42734381-42734382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2973024	chr5:42734404-42734405	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs80012817	chr5:42734408-42734409	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs144905387	chr5:42734426-42734427	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs574070264	chr5:42734466-42734467	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs547736491	chr5:42734502-42734503	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs541478707	chr5:42734524-42734525	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs559492949	chr5:42734543-42734544	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs77366305	chr5:42734583-42734584	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs113105749	chr5:42734590-42734591	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563611955	chr5:42734621-42734622	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs2910871	chr5:42734622-42734623	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs548927128	chr5:42734637-42734638	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs4270738	chr5:42734653-42734654	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567421851	chr5:42734664-42734665	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs528182361	chr5:42734704-42734705	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs62373002	chr5:42734713-42734714	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs570501427	chr5:42734731-42734732	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs183951338	chr5:42734775-42734776	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs556521668	chr5:42734791-42734792	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs138801046	chr5:42734828-42734829	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs537317205	chr5:42734837-42734838	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs555696457	chr5:42734838-42734839	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs574132983	chr5:42734839-42734840	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs62373003	chr5:42734854-42734855	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs553476122	chr5:42734872-42734873	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs578135224	chr5:42734876-42734877	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545447803	chr5:42734877-42734878	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs371464428	chr5:42734880-42734881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs559633879	chr5:42734888-42734889	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs575626718	chr5:42734889-42734890	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs542867176	chr5:42734909-42734910	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs370796310	chr5:42734928-42734929	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs146329909	chr5:42734939-42734940	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs546468878	chr5:42734954-42734955	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs374809708	chr5:42734965-42734966	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs532054439	chr5:42734973-42734974	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs188726718	chr5:42734981-42734982	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs201294327	chr5:42734998-42734999	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs199587102	chr5:42745814-42745815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200675839	chr5:42745816-42745817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201177186	chr5:42745817-42745818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576544824	chr5:42745853-42745854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543927028	chr5:42745855-42745856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74565056	chr5:42745900-42745901	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42734200-42734400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr5:42734200-42734400	Enhancers	K562	blood
3	chr5:42734400-42734600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr5:42734400-42734600	Flanking Active TSS	K562	blood
5	chr5:42734400-42734800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr5:42734400-42735000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:42734600-42735000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr5:42734600-42735000	Active TSS	K562	blood
9	chr5:42745800-42746400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:42746000-42746200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:42746400-42752400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:42749200-42749600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:42749200-42749600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:42750600-42750800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:42750600-42751000	Enhancers	Esophagus	oesophagus
16	chr5:42750600-42751600	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links