Variant report

Variant	nsv934125
Chromosome Location	chr5:60217869-60224996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:60224933-60225228	K562	blood:	n/a	n/a
2	CTCF	chr5:60224883-60225159	A549	lung:	n/a	n/a
3	CTCF	chr5:60224992-60225078	GM10266	blood:	n/a	n/a
4	CTCF	chr5:60224940-60225090	GM12801	blood:	n/a	n/a
5	CTCF	chr5:60224960-60225110	HMF	breast:	n/a	n/a
6	CTCF	chr5:60224960-60225110	HCFaa	heart:	n/a	n/a
7	CTCF	chr5:60224940-60225090	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr5:60224850-60225231	IMR90	lung:	n/a	n/a
9	CTCF	chr5:60224960-60225110	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr5:60224978-60225143	LNCaP	prostate:	n/a	n/a
11	CTCF	chr5:60224900-60225050	HMEC	breast:	n/a	n/a
12	CTCF	chr5:60224980-60225130	HEEpiC	esophagus:	n/a	n/a
13	CTCF	chr5:60224920-60225070	HRE	kidney:	n/a	n/a
14	CTCF	chr5:60224980-60225130	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr5:60224640-60224790	NHEK	skin:	n/a	n/a
16	CTCF	chr5:60224980-60225130	GM12875	blood:	n/a	n/a
17	CTCF	chr5:60224960-60225110	GM12870	blood:	n/a	n/a
18	CTCF	chr5:60224960-60225110	GM12871	blood:	n/a	n/a
19	CTCF	chr5:60224980-60225130	AG04449	skin:	n/a	n/a
20	CTCF	chr5:60224787-60225309	HCT-116	colon:	n/a	n/a
21	CTCF	chr5:60224920-60225070	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr5:60224960-60225110	HMEC	breast:	n/a	n/a
23	CTCF	chr5:60224940-60225090	AG10803	skin:	n/a	n/a
24	CTCF	chr5:60224980-60225130	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr5:60224980-60225130	HRE	kidney:	n/a	n/a
26	CTCF	chr5:60224972-60225151	K562	blood:	n/a	n/a
27	CTCF	chr5:60224980-60225130	NHEK	skin:	n/a	n/a
28	CTCF	chr5:60224940-60225090	WI-38	lung:	n/a	n/a
29	CTCF	chr5:60224900-60225050	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr5:60224932-60225258	MCF-7	breast:	n/a	n/a
31	CTCF	chr5:60224994-60225118	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr5:60224875-60225187	GM12878	blood:	n/a	n/a
33	CTCF	chr5:60224980-60225130	GM12872	blood:	n/a	n/a
34	CTCF	chr5:60224859-60225241	K562	blood:	n/a	n/a
35	CTCF	chr5:60224980-60225130	Caco-2	colon:	n/a	n/a
36	CTCF	chr5:60224929-60225155	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr5:60224953-60225120	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr5:60224960-60225110	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr5:60224960-60225110	Caco-2	colon:	n/a	n/a
40	CTCF	chr5:60224980-60225130	AG04450	lung:	n/a	n/a
41	CTCF	chr5:60224920-60225070	NHEK	skin:	n/a	n/a
42	CTCF	chr5:60224940-60225090	AG09319	gingival:	n/a	n/a
43	CTCF	chr5:60224960-60225110	GM12873	blood:	n/a	n/a
44	CTCF	chr5:60224628-60225323	A549	lung:	n/a	n/a
45	CTCF	chr5:60224940-60225090	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr5:60224940-60225090	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr5:60224973-60225129	Medullo	brain:	n/a	n/a
48	CTCF	chr5:60224980-60225130	AG09319	gingival:	n/a	n/a
49	CTCF	chr5:60224960-60225110	HCM	heart:	n/a	n/a
50	CTCF	chr5:60224968-60225209	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:59973247..59973801-chr5:60224508..60225118,3	K562	blood:
2	chr5:60221265..60223618-chr5:60225710..60228290,2	MCF-7	breast:
3	chr5:59973332..59975337-chr5:60224481..60226392,2	MCF-7	breast:

No data

Variant related genes	Relation type
ERCC8	TF binding region

Extended variants
information (count: 248 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371296308	chr5:60217879-60217880	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs369951599	chr5:60217885-60217886	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs146740678	chr5:60217906-60217907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56376749	chr5:60217919-60217920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372707555	chr5:60217922-60217923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528369656	chr5:60217952-60217953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200205429	chr5:60217964-60217965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140343389	chr5:60217981-60217982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530679736	chr5:60217982-60217983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551105507	chr5:60217983-60217984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201535238	chr5:60218010-60218011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539548460	chr5:60218016-60218017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533194792	chr5:60218040-60218041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183314166	chr5:60218054-60218055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187560776	chr5:60218064-60218065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546952821	chr5:60218084-60218085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567085979	chr5:60218166-60218167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79314404	chr5:60218225-60218226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143221570	chr5:60218251-60218252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147474400	chr5:60218285-60218286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538014812	chr5:60218327-60218328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556800134	chr5:60218405-60218406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76858571	chr5:60218419-60218420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367623962	chr5:60218608-60218609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552922148	chr5:60218629-60218630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76910838	chr5:60218670-60218671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542150700	chr5:60218745-60218746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561924860	chr5:60218767-60218768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192041599	chr5:60218836-60218837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544393002	chr5:60218837-60218838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138234622	chr5:60218846-60218847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533451521	chr5:60218864-60218865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184770801	chr5:60218881-60218882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4647073	chr5:60218922-60218923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34253881	chr5:60218923-60218924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112297102	chr5:60218924-60218925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4647072	chr5:60218927-60218928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529209393	chr5:60218935-60218936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549279725	chr5:60218950-60218951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569179699	chr5:60218974-60218975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188088729	chr5:60219051-60219052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551932620	chr5:60219074-60219075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192671793	chr5:60219120-60219121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570492164	chr5:60219132-60219133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556935749	chr5:60219210-60219211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573120302	chr5:60219215-60219216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376333661	chr5:60219217-60219218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559007904	chr5:60219228-60219229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539514331	chr5:60219284-60219285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112384944	chr5:60219355-60219356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
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
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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Contiguous gene syndrome	19525295	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60167800-60228200	Weak transcription	Psoas Muscle	Psoas
2	chr5:60175800-60239400	Weak transcription	NHEK	skin
3	chr5:60176400-60220400	Weak transcription	Esophagus	oesophagus
4	chr5:60177200-60239600	Weak transcription	HSMMtube	muscle
5	chr5:60177400-60232800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:60181000-60218800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:60181600-60230800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:60183400-60228000	Weak transcription	Small Intestine	intestine
9	chr5:60185600-60221200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:60187600-60223800	Weak transcription	HUVEC	blood vessel
11	chr5:60187600-60239600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:60187800-60239600	Weak transcription	Brain Angular Gyrus	brain
13	chr5:60188000-60223400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:60189400-60240000	Weak transcription	Spleen	Spleen
15	chr5:60189600-60224000	Weak transcription	Osteobl	bone
16	chr5:60189600-60239600	Weak transcription	Right Ventricle	heart
17	chr5:60189600-60240000	Weak transcription	Pancreas	Pancrea
18	chr5:60189800-60223600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:60189800-60225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:60189800-60225800	Weak transcription	Fetal Brain Female	brain
21	chr5:60190200-60224000	Weak transcription	Brain Germinal Matrix	brain
22	chr5:60191000-60227200	Weak transcription	Fetal Intestine Small	intestine
23	chr5:60191000-60232800	Weak transcription	Fetal Stomach	stomach
24	chr5:60193200-60227400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:60193200-60232800	Weak transcription	Lung	lung
26	chr5:60193200-60239800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:60194600-60222800	Weak transcription	HMEC	breast
28	chr5:60199600-60224400	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:60201600-60229800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:60201800-60225600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:60202000-60223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:60202000-60223400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:60202800-60223200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:60207600-60225400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr5:60209800-60218400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:60210200-60218000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr5:60210200-60220600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:60210800-60223800	Weak transcription	Stomach Mucosa	stomach
39	chr5:60211600-60223200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:60211800-60233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr5:60212000-60223000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:60212200-60223000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr5:60212400-60223200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:60212800-60225200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:60213000-60239800	Weak transcription	Colonic Mucosa	Colon
46	chr5:60213200-60233000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:60213200-60233200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:60213400-60222800	Weak transcription	Fetal Intestine Large	intestine
49	chr5:60213400-60223200	Weak transcription	NH-A	brain
50	chr5:60213400-60224000	Weak transcription	NHDF-Ad	bronchial

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