Variant report

Variant	nsv980638
Chromosome Location	chr5:37504686-37515708
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	BACH1	chr5:37512136-37512171	K562	blood:	n/a	n/a
2	CTCF	chr5:37506148-37506175	LNCaP	prostate:	n/a	n/a
3	CTCF	chr5:37506900-37507050	BE2_C	brain:	n/a	chr5:37506968-37506977 chr5:37506964-37506977
4	CTCF	chr5:37506920-37507070	K562	blood:	n/a	chr5:37506968-37506977 chr5:37506964-37506977
5	CTCF	chr5:37506888-37507075	H1-hESC	embryonic stem cell:	n/a	chr5:37506968-37506977 chr5:37506964-37506977
6	CTCF	chr5:37506360-37506448	Lung_OC	lung:	n/a	n/a
7	CTCF	chr5:37506920-37507070	HEK293	kidney:	n/a	chr5:37506968-37506977 chr5:37506964-37506977
8	CTCF	chr5:37506880-37507030	WERI-Rb-1	eye:	n/a	chr5:37506968-37506977 chr5:37506964-37506977
9	CTCF	chr5:37506920-37507070	Hela-S3	cervix:	n/a	chr5:37506968-37506977 chr5:37506964-37506977
10	CTCF	chr5:37506900-37507050	HBMEC	blood vessel:	n/a	chr5:37506968-37506977 chr5:37506964-37506977
11	CTCF	chr5:37506043-37506122	GM10266	blood:	n/a	n/a
12	CTCF	chr5:37506920-37507070	GM12872	blood:	n/a	chr5:37506968-37506977 chr5:37506964-37506977
13	CTCF	chr5:37506241-37506294	GM13976	blood:	n/a	n/a
14	CTCF	chr5:37512956-37512983	GM13976	blood:	n/a	n/a
15	CTCF	chr5:37506860-37507010	WERI-Rb-1	eye:	n/a	chr5:37506968-37506977 chr5:37506964-37506977
16	CTCF	chr5:37506860-37507010	HepG2	liver:	n/a	chr5:37506968-37506977 chr5:37506964-37506977
17	CTCF	chr5:37506860-37507010	Caco-2	colon:	n/a	chr5:37506968-37506977 chr5:37506964-37506977
18	FOSL1	chr5:37506174-37506691	HCT-116	colon:	n/a	n/a
19	HEY1	chr5:37514484-37514708	K562	blood:	n/a	n/a
20	JUN	chr5:37504520-37504866	K562	blood:	n/a	n/a
21	MAZ	chr5:37506913-37506915	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr5:37506956-37506970	A549	lung:	n/a	n/a
23	POLR2A	chr5:37505715-37505759	ProgFib	skin:	n/a	n/a
24	POLR2A	chr5:37506952-37507131	MCF-7	breast:	n/a	n/a
25	RAD21	chr5:37506970-37506988	H1-hESC	embryonic stem cell:	n/a	n/a
26	SPI1	chr5:37513380-37513649	HL-60	blood:	n/a	n/a
27	STAT3	chr5:37508073-37508226	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:37503334..37505446-chr5:37509179..37510910,2	K562	blood:
2	chr5:37503334..37505446-chr5:37509179..37510910,2	K562	blood:
3	chr5:37440538..37443537-chr5:37502324..37504824,2	K562	blood:
4	chr5:37509914..37511896-chr5:37518755..37521412,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUP155-5	chr5:37505790-37506959	NONHSAT101066

Variant related genes	Relation type
ENSG00000248216	TF binding region

Extended variants
information (count: 407 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:407 , 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	rs374327456	chr5:37504716-37504717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558731110	chr5:37504725-37504726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544304853	chr5:37504736-37504737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540776879	chr5:37504751-37504752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191153240	chr5:37504762-37504763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541611734	chr5:37504785-37504786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368186467	chr5:37504788-37504789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4086257	chr5:37504797-37504798	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144138502	chr5:37504810-37504811	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564116936	chr5:37504851-37504852	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531724567	chr5:37504887-37504888	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549851908	chr5:37504957-37504958	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568609482	chr5:37504993-37504994	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529494064	chr5:37505062-37505063	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547635577	chr5:37505098-37505099	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375557132	chr5:37505318-37505319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537949885	chr5:37505363-37505364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80243999	chr5:37505406-37505407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558616157	chr5:37505441-37505442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543186804	chr5:37505454-37505455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61421708	chr5:37505498-37505499	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537982243	chr5:37505513-37505514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556224723	chr5:37505559-37505560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142224883	chr5:37505564-37505565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1829293	chr5:37505571-37505572	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553654755	chr5:37505579-37505580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1829292	chr5:37505646-37505647	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs377298228	chr5:37505653-37505654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147164901	chr5:37505723-37505724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545676508	chr5:37505757-37505758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564180093	chr5:37505805-37505806	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs531592470	chr5:37505806-37505807	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs543366778	chr5:37505840-37505841	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs562221286	chr5:37505949-37505950	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs201043555	chr5:37505974-37505975	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs1829291	chr5:37505987-37505988	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs547994769	chr5:37506044-37506045	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs375523858	chr5:37506063-37506064	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs545429322	chr5:37506172-37506173	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs1829290	chr5:37506174-37506175	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs183708256	chr5:37506253-37506254	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs552095211	chr5:37506265-37506266	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs570314705	chr5:37506283-37506284	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs188275153	chr5:37506306-37506307	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs11957546	chr5:37506332-37506333	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs568167369	chr5:37506340-37506341	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs535178992	chr5:37506348-37506349	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs553967203	chr5:37506355-37506356	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs571898592	chr5:37506390-37506391	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs527676525	chr5:37506448-37506449	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	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
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37476600-37513200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:37480600-37510800	Weak transcription	Brain Angular Gyrus	brain
3	chr5:37481600-37519200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:37481800-37507400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:37481800-37519400	Weak transcription	Pancreas	Pancrea
6	chr5:37481800-37521200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:37482200-37518400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:37482200-37519200	Weak transcription	Placenta	Placenta
9	chr5:37482600-37507000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:37483000-37521400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:37483000-37525400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:37483200-37519600	Weak transcription	Left Ventricle	heart
13	chr5:37488200-37518400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:37488200-37519200	Weak transcription	Ovary	ovary
15	chr5:37488600-37520200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:37489000-37548400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:37489200-37518400	Weak transcription	Dnd41	blood
18	chr5:37489600-37511800	Weak transcription	GM12878-XiMat	blood
19	chr5:37489600-37519400	Weak transcription	Spleen	Spleen
20	chr5:37489600-37521000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:37491000-37518000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:37491000-37519200	Weak transcription	Thymus	Thymus
23	chr5:37491200-37519200	Weak transcription	Lung	lung
24	chr5:37491200-37519400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:37491200-37519400	Weak transcription	Esophagus	oesophagus
26	chr5:37493000-37522000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:37493200-37519400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:37493600-37522800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:37495200-37520800	Weak transcription	Liver	Liver
30	chr5:37495400-37518400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:37495600-37512600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:37495800-37519200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:37496200-37508600	Weak transcription	NH-A	brain
34	chr5:37496200-37518400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:37496200-37518400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:37496200-37522000	Weak transcription	HSMM	muscle
37	chr5:37496200-37533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:37496600-37506800	Weak transcription	Fetal Stomach	stomach
39	chr5:37496600-37518000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:37496600-37541000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:37497000-37520600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:37497200-37517400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:37497200-37519200	Weak transcription	Aorta	Aorta
44	chr5:37497200-37519400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:37497200-37519400	Weak transcription	Colonic Mucosa	Colon
46	chr5:37497400-37519200	Weak transcription	Gastric	stomach
47	chr5:37497600-37508600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:37499000-37517600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:37499200-37505400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr5:37499200-37517600	Weak transcription	Fetal Intestine Large	intestine

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