Variant report

Variant	nsv968117
Chromosome Location	chr5:154371654-154381973
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	BATF	chr5:154379502-154379741	GM12878	blood:	n/a	chr5:154379638-154379649
2	BATF	chr5:154379518-154379735	GM12878	blood:	n/a	chr5:154379638-154379649
3	BHLHE40	chr5:154380317-154380639	HepG2	liver:	n/a	n/a
4	CEBPB	chr5:154381686-154381756	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr5:154375415-154375542	MCF-7	breast:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
6	CTCF	chr5:154375380-154375530	Caco-2	colon:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
7	CTCF	chr5:154375400-154375550	HUVEC	blood vessel:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
8	CTCF	chr5:154375419-154375533	MCF-7	breast:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
9	CTCF	chr5:154375440-154375590	HCPEpiC	choroid plexus:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
10	CTCF	chr5:154375421-154375554	GM19240	blood:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
11	CTCF	chr5:154375440-154375590	Hela-S3	cervix:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
12	CTCF	chr5:154375398-154375538	MCF-7	breast:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
13	CTCF	chr5:154375389-154375542	MCF-7	breast:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
14	CTCF	chr5:154375080-154375230	GM12870	blood:	n/a	n/a
15	CTCF	chr5:154375400-154375550	HPAF	blood vessel:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
16	CTCF	chr5:154375400-154375550	MCF-7	breast:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
17	CTCF	chr5:154375392-154375586	K562	blood:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
18	CTCF	chr5:154375360-154375510	BE2_C	brain:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
19	CTCF	chr5:154375440-154375524	GM13977	blood:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
20	CTCF	chr5:154375160-154375310	Caco-2	colon:	n/a	n/a
21	CTCF	chr5:154375340-154375490	HA-sp	spinal cord:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
22	CTCF	chr5:154375140-154375290	GM06990	blood:	n/a	n/a
23	CTCF	chr5:154375340-154375490	GM12873	blood:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
24	CTCF	chr5:154375380-154375530	HEK293	kidney:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
25	CTCF	chr5:154375400-154375550	HBMEC	blood vessel:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
26	CTCF	chr5:154375452-154375500	GM10248	blood:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
27	CTCF	chr5:154375385-154375621	K562	blood:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
28	CTCF	chr5:154375415-154375563	GM12878	blood:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
29	CTCF	chr5:154375360-154375510	K562	blood:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
30	CTCF	chr5:154375480-154375630	HCM	heart:	n/a	n/a
31	CTCF	chr5:154375406-154375513	Fibrobl	skin:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
32	CTCF	chr5:154375360-154375510	HCT-116	colon:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
33	CTCF	chr5:154375360-154375510	HepG2	liver:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
34	CTCF	chr5:154375440-154375590	GM12871	blood:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
35	CTCF	chr5:154375360-154375510	HUVEC	blood vessel:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
36	CTCF	chr5:154375340-154375490	GM12874	blood:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
37	CTCF	chr5:154375379-154375532	GM12878	blood:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
38	CTCF	chr5:154375340-154375490	GM06990	blood:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
39	CTCF	chr5:154375460-154375610	NB4	blood:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
40	CTCF	chr5:154375280-154375430	HFF-Myc	foreskin:	n/a	n/a
41	CTCF	chr5:154375360-154375510	HEK293	kidney:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
42	CTCF	chr5:154375320-154375470	GM12870	blood:	n/a	n/a
43	CTCF	chr5:154375401-154375523	MCF-7	breast:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
44	CTCF	chr5:154375400-154375550	GM12864	blood:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
45	CTCF	chr5:154375440-154375590	HMF	breast:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
46	CTCF	chr5:154375380-154375530	WERI-Rb-1	eye:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
47	CTCF	chr5:154375406-154375539	NHEK	skin:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
48	CTCF	chr5:154375386-154375552	GM19238	blood:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
49	CTCF	chr5:154375418-154375562	Medullo	brain:	n/a	chr5:154375469-154375482 chr5:154375467-154375485
50	CTCF	chr5:154375280-154375430	GM12872	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:154359595..154361821-chr5:154373217..154376042,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253261	TF binding region

Extended variants
information (count: 419 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193220342	chr5:154371681-154371682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530941752	chr5:154371725-154371726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550646767	chr5:154371778-154371779	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs146841113	chr5:154371847-154371848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530317436	chr5:154371915-154371916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546838761	chr5:154371919-154371920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62382246	chr5:154371920-154371921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532849569	chr5:154371966-154371967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551422599	chr5:154371967-154371968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571245703	chr5:154372011-154372012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537012216	chr5:154372023-154372024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148971485	chr5:154372026-154372027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529287189	chr5:154372050-154372051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567205522	chr5:154372113-154372114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112712660	chr5:154372154-154372155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552882704	chr5:154372156-154372157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572848787	chr5:154372206-154372207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544882386	chr5:154372250-154372251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558564206	chr5:154372290-154372291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575257441	chr5:154372334-154372335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142978730	chr5:154372356-154372357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182662631	chr5:154372426-154372427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530127706	chr5:154372453-154372454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151103448	chr5:154372475-154372476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140747008	chr5:154372498-154372499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574561190	chr5:154372548-154372549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532888984	chr5:154372564-154372565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17116671	chr5:154372587-154372588	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569544891	chr5:154372597-154372598	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs375317017	chr5:154372614-154372615	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs150085083	chr5:154372617-154372618	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs560369354	chr5:154372624-154372625	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs550269670	chr5:154372625-154372626	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs527594267	chr5:154372639-154372640	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs113064860	chr5:154372652-154372653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61430349	chr5:154372740-154372741	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs147806578	chr5:154372781-154372782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73280761	chr5:154372848-154372849	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187694565	chr5:154372855-154372856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558431302	chr5:154372931-154372932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575153658	chr5:154372961-154372962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73280762	chr5:154372984-154372985	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531380299	chr5:154373057-154373058	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs554663151	chr5:154373069-154373070	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs73280768	chr5:154373070-154373071	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549060987	chr5:154373076-154373077	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs192731158	chr5:154373227-154373228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560534837	chr5:154373237-154373238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568097492	chr5:154373249-154373250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115556963	chr5:154373264-154373265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154365000-154372400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:154370200-154375400	Weak transcription	HUVEC	blood vessel
3	chr5:154371600-154371800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:154371800-154372400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:154372400-154373200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:154372400-154373200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:154372400-154373200	Enhancers	Dnd41	blood
8	chr5:154373200-154376400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:154373200-154376800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:154374600-154375600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr5:154374600-154375600	Enhancers	HepG2	liver
12	chr5:154374600-154375800	Enhancers	Brain Hippocampus Middle	brain
13	chr5:154375000-154375400	Enhancers	Brain Substantia Nigra	brain
14	chr5:154375000-154375400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:154375400-154377800	Enhancers	HUVEC	blood vessel
16	chr5:154375600-154380400	Weak transcription	HepG2	liver
17	chr5:154376400-154378000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:154376600-154377800	Enhancers	HMEC	breast
19	chr5:154376600-154377800	Enhancers	NHEK	skin
20	chr5:154376800-154377200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:154376800-154377800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:154376800-154377800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:154377000-154377600	Enhancers	Hela-S3	cervix
24	chr5:154377000-154377800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:154377200-154377400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:154377400-154377600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:154377600-154377800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:154377800-154378000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:154377800-154379200	Weak transcription	HUVEC	blood vessel
30	chr5:154377800-154381200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:154377800-154381800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:154377800-154381800	Weak transcription	HMEC	breast
33	chr5:154377800-154381800	Weak transcription	NHEK	skin
34	chr5:154380400-154381400	Enhancers	HepG2	liver
35	chr5:154381200-154381400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:154381200-154381600	Enhancers	Placenta	Placenta
37	chr5:154381400-154382000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:154381400-154386400	Weak transcription	HepG2	liver
39	chr5:154381800-154382000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:154381800-154382400	Enhancers	HMEC	breast
41	chr5:154381800-154382400	Enhancers	NHEK	skin

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