Variant report

Variant	nsv882755
Chromosome Location	chr5:116647725-116748877
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	CEBPB	chr5:116673360-116673541	HepG2	liver:	n/a	chr5:116673396-116673407
2	CEBPB	chr5:116731251-116731410	HepG2	liver:	n/a	chr5:116731335-116731348
3	CEBPB	chr5:116739875-116740143	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr5:116672802-116673100	IMR90	lung:	n/a	chr5:116672931-116672942
5	CEBPB	chr5:116672770-116673080	HepG2	liver:	n/a	chr5:116672931-116672942
6	CEBPB	chr5:116672711-116673100	MCF-7	breast:	n/a	chr5:116672931-116672942
7	CTCF	chr5:116654340-116654490	Hela-S3	cervix:	n/a	chr5:116654405-116654418
8	CTCF	chr5:116662760-116662910	GM12865	blood:	n/a	n/a
9	CTCF	chr5:116654340-116654490	HMEC	breast:	n/a	chr5:116654405-116654418
10	CTCF	chr5:116654317-116654469	H1-hESC	embryonic stem cell:	n/a	chr5:116654405-116654418
11	CTCF	chr5:116654275-116654599	MCF-7	breast:	n/a	chr5:116654405-116654418
12	CTCF	chr5:116654360-116654464	HepG2	liver:	n/a	chr5:116654405-116654418
13	CTCF	chr5:116654320-116654470	RPTEC	kidney:	n/a	chr5:116654405-116654418
14	CTCF	chr5:116654200-116654350	A549	lung:	n/a	n/a
15	CTCF	chr5:116654366-116654434	LNCaP	prostate:	n/a	chr5:116654405-116654418
16	CTCF	chr5:116654380-116654530	GM06990	blood:	n/a	chr5:116654405-116654418
17	CTCF	chr5:116654360-116654510	HEK293	kidney:	n/a	chr5:116654405-116654418
18	CTCF	chr5:116654326-116654530	MCF-7	breast:	n/a	chr5:116654405-116654418
19	CTCF	chr5:116654354-116654441	MCF-7	breast:	n/a	chr5:116654405-116654418
20	CTCF	chr5:116654300-116654450	GM12874	blood:	n/a	chr5:116654405-116654418
21	CTCF	chr5:116662840-116662990	BE2_C	brain:	n/a	n/a
22	CTCF	chr5:116654300-116654450	HBMEC	blood vessel:	n/a	chr5:116654405-116654418
23	CTCF	chr5:116654340-116654490	MCF-7	breast:	n/a	chr5:116654405-116654418
24	CTCF	chr5:116654340-116654490	HBMEC	blood vessel:	n/a	chr5:116654405-116654418
25	CTCF	chr5:116654300-116654450	SAEC	small airway:	n/a	chr5:116654405-116654418
26	CTCF	chr5:116747996-116748051	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr5:116654360-116654510	GM12864	blood:	n/a	chr5:116654405-116654418
28	CTCF	chr5:116654347-116654484	MCF-7	breast:	n/a	chr5:116654405-116654418
29	CTCF	chr5:116654280-116654430	GM12878	blood:	n/a	chr5:116654405-116654418
30	CTCF	chr5:116654285-116654545	GM12878	blood:	n/a	chr5:116654405-116654418
31	CTCF	chr5:116687119-116687145	GM10266	blood:	n/a	n/a
32	CTCF	chr5:116662760-116662910	GM12873	blood:	n/a	n/a
33	CTCF	chr5:116654260-116654410	HCT-116	colon:	n/a	n/a
34	CTCF	chr5:116654320-116654470	Caco-2	colon:	n/a	chr5:116654405-116654418
35	CTCF	chr5:116654333-116654500	MCF-7	breast:	n/a	chr5:116654405-116654418
36	CTCF	chr5:116654320-116654470	GM12865	blood:	n/a	chr5:116654405-116654418
37	CTCF	chr5:116654340-116654490	HRE	kidney:	n/a	chr5:116654405-116654418
38	CTCF	chr5:116654300-116654450	NHEK	skin:	n/a	chr5:116654405-116654418
39	CTCF	chr5:116654340-116654490	RPTEC	kidney:	n/a	chr5:116654405-116654418
40	CTCF	chr5:116654360-116654510	GM12869	blood:	n/a	chr5:116654405-116654418
41	CTCF	chr5:116662820-116662970	GM12874	blood:	n/a	n/a
42	CTCF	chr5:116662820-116662970	HEK293	kidney:	n/a	n/a
43	CTCF	chr5:116662818-116663057	GM12878	blood:	n/a	n/a
44	CTCF	chr5:116662800-116662950	HCT-116	colon:	n/a	n/a
45	CTCF	chr5:116662733-116663013	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr5:116662840-116662990	GM12864	blood:	n/a	n/a
47	CTCF	chr5:116662800-116662950	NB4	blood:	n/a	n/a
48	CTCF	chr5:116662812-116662956	HepG2	liver:	n/a	n/a
49	CTCF	chr5:116654360-116654510	MCF-7	breast:	n/a	chr5:116654405-116654418
50	CTCF	chr5:116654290-116654545	MCF-7	breast:	n/a	chr5:116654405-116654418

No.	Distal block	Cell Line	Cell type
1	chr5:116744135..116746719-chr5:116750453..116752242,2	MCF-7	breast:
2	chr5:116680619..116683137-chr5:116684782..116686469,2	MCF-7	breast:
3	chr5:116709795..116713885-chr5:116717479..116721687,3	K562	blood:
4	chr5:116648124..116649695-chr5:116650114..116652832,2	MCF-7	breast:
5	chr5:116648124..116649695-chr5:116650114..116652832,2	MCF-7	breast:
6	chr5:116640598..116642872-chr5:116653886..116656099,2	MCF-7	breast:
7	chr13:54966032..54966839-chr5:116662215..116662871,2	MCF-7	breast:
8	chr5:116709795..116713885-chr5:116717479..116721687,3	K562	blood:
9	chr5:116649673..116651747-chr5:116653579..116656311,3	MCF-7	breast:
10	chr5:116680122..116681946-chr5:116688874..116691608,2	MCF-7	breast:
11	chr5:116709613..116711341-chr5:116714907..116717290,2	MCF-7	breast:
12	chr5:116649673..116651747-chr5:116653579..116656311,3	MCF-7	breast:
13	chr5:116680122..116681946-chr5:116688874..116691608,2	MCF-7	breast:
14	chr5:116709613..116711341-chr5:116714907..116717290,2	MCF-7	breast:
15	chr5:116693270..116694072-chr5:116822684..116823457,3	MCF-7	breast:
16	chr5:116693270..116694072-chr5:116822684..116823457,2	MCF-7	breast:
17	chr5:116654194..116654786-chr5:116790174..116790911,2	MCF-7	breast:
18	chr5:116680619..116683137-chr5:116684782..116686469,2	MCF-7	breast:

Variant related genes	Relation type
LINC00992	TF binding region
ENSG00000248663	chromatin interactions

Extended variants
information (count: 1939 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1939 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7735145	chr5:116647725-116647726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371879921	chr5:116647746-116647747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181139247	chr5:116647769-116647770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575131158	chr5:116647779-116647780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544018868	chr5:116647797-116647798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557404233	chr5:116647817-116647818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185939818	chr5:116647822-116647823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539805804	chr5:116647884-116647885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374752967	chr5:116647911-116647912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141284924	chr5:116647912-116647913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7735868	chr5:116647926-116647927	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190409627	chr5:116647955-116647956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571702212	chr5:116647979-116647980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563055516	chr5:116647990-116647991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368330707	chr5:116650810-116650811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546011124	chr5:116650858-116650859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs578202253	chr5:116650861-116650862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148323715	chr5:116650866-116650867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115962614	chr5:116650867-116650868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56146566	chr5:116650880-116650881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566562625	chr5:116650893-116650894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561119980	chr5:116650896-116650897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193211851	chr5:116650926-116650927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184401288	chr5:116650956-116650957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545650446	chr5:116650968-116650969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532211104	chr5:116650982-116650983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552019776	chr5:116650999-116651000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565782455	chr5:116651017-116651018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140446123	chr5:116651038-116651039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34744397	chr5:116651046-116651047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150391351	chr5:116651053-116651054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1845563	chr5:116651075-116651076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189335404	chr5:116651078-116651079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550757192	chr5:116651097-116651098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570993084	chr5:116651131-116651132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540041627	chr5:116651139-116651140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552366186	chr5:116651157-116651158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181361791	chr5:116651191-116651192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77157118	chr5:116651192-116651193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185404901	chr5:116651206-116651207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138553822	chr5:116651232-116651233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189093374	chr5:116651247-116651248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563456486	chr5:116651251-116651252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576926323	chr5:116651271-116651272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568980841	chr5:116651297-116651298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144064077	chr5:116651310-116651311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559137701	chr5:116651332-116651333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147319627	chr5:116651387-116651388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536118846	chr5:116652229-116652230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112984835	chr5:116652262-116652263	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116647600-116648000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr5:116650800-116651400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:116652200-116653000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:116652800-116654400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:116653000-116653800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:116653000-116654000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:116653000-116654400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:116653200-116653400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:116653400-116654000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:116653400-116654200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:116653400-116654600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:116654000-116654200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:116654000-116654600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:116661600-116662200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:116662200-116662600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:116662600-116663000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:116667200-116667400	Enhancers	Brain Germinal Matrix	brain
18	chr5:116667600-116668600	Weak transcription	Brain Germinal Matrix	brain
19	chr5:116668600-116669000	Enhancers	Brain Germinal Matrix	brain
20	chr5:116670200-116670800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:116670200-116671000	Enhancers	Adipose Nuclei	Adipose
22	chr5:116672000-116672400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:116672000-116673000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:116672400-116672600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:116673200-116673600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr5:116673200-116673800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr5:116678800-116679000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:116679200-116679600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:116679400-116679600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:116679400-116680200	Active TSS	HepG2	liver
31	chr5:116679600-116680000	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr5:116679600-116680000	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr5:116679600-116680200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr5:116679600-116680200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr5:116679600-116680200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:116679600-116680200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr5:116679600-116680200	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr5:116679600-116680400	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr5:116680000-116680200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr5:116680000-116680200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr5:116680000-116680200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr5:116680200-116680400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr5:116680200-116683000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:116680200-116683000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:116683000-116683400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr5:116683000-116683600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:116683000-116683600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:116683200-116684000	Enhancers	Aorta	Aorta
49	chr5:116683600-116689000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:116687000-116687200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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