Variant report

Variant	esv2761460
Chromosome Location	chr8:111506457-111607147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:346)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:111523582-111523674	K562	blood:	n/a	n/a
2	CEBPB	chr8:111566321-111566477	A549	lung:	n/a	chr8:111566413-111566424
3	CEBPB	chr8:111566370-111566428	HepG2	liver:	n/a	chr8:111566413-111566424
4	CEBPB	chr8:111563640-111564025	MCF-7	breast:	n/a	chr8:111563940-111563951
5	CEBPB	chr8:111563765-111564094	A549	lung:	n/a	chr8:111563940-111563951
6	CEBPB	chr8:111539028-111539286	HepG2	liver:	n/a	chr8:111539185-111539196 chr8:111539167-111539178
7	CEBPB	chr8:111539037-111539369	IMR90	lung:	n/a	chr8:111539185-111539196 chr8:111539167-111539178
8	CEBPB	chr8:111563470-111564178	MCF-7	breast:	n/a	chr8:111563940-111563951
9	CEBPB	chr8:111551859-111552317	MCF-7	breast:	n/a	n/a
10	CEBPB	chr8:111605973-111606139	HepG2	liver:	n/a	chr8:111606013-111606024
11	CEBPB	chr8:111551759-111552363	MCF-7	breast:	n/a	n/a
12	CEBPB	chr8:111525002-111525202	HepG2	liver:	n/a	chr8:111525140-111525151 chr8:111525141-111525150 chr8:111525139-111525150
13	CEBPB	chr8:111539118-111539315	K562	blood:	n/a	chr8:111539185-111539196 chr8:111539167-111539178
14	CEBPB	chr8:111563777-111564088	HepG2	liver:	n/a	chr8:111563940-111563951
15	CEBPB	chr8:111599789-111599997	HepG2	liver:	n/a	chr8:111599955-111599967 chr8:111599861-111599872
16	CEBPB	chr8:111580266-111580852	MCF-7	breast:	n/a	chr8:111580459-111580472
17	CEBPB	chr8:111599775-111599936	K562	blood:	n/a	chr8:111599861-111599872
18	CEBPB	chr8:111520325-111520598	HepG2	liver:	n/a	chr8:111520458-111520471 chr8:111520458-111520471 chr8:111520460-111520471 chr8:111520460-111520469 chr8:111520458-111520469
19	CEBPB	chr8:111573269-111573432	A549	lung:	n/a	n/a
20	CEBPB	chr8:111539090-111539260	H1-hESC	embryonic stem cell:	n/a	chr8:111539185-111539196 chr8:111539167-111539178
21	CEBPB	chr8:111539099-111539344	A549	lung:	n/a	chr8:111539185-111539196 chr8:111539167-111539178
22	CEBPZ	chr8:111561657-111561751	HepG2	liver:	n/a	n/a
23	CHD2	chr8:111571903-111572103	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr8:111571900-111572050	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr8:111571864-111572042	Gliobla	brain:	n/a	n/a
26	CTCF	chr8:111571880-111572030	AG09309	skin:	n/a	n/a
27	CTCF	chr8:111571885-111572046	NHEK	skin:	n/a	n/a
28	CTCF	chr8:111571900-111572050	GM12878	blood:	n/a	n/a
29	CTCF	chr8:111571880-111572030	GM12868	blood:	n/a	n/a
30	CTCF	chr8:111571880-111572030	GM12872	blood:	n/a	n/a
31	CTCF	chr8:111571847-111572055	T-47D	breast:	n/a	n/a
32	CTCF	chr8:111571860-111572010	GM12864	blood:	n/a	n/a
33	CTCF	chr8:111571900-111572050	HMEC	breast:	n/a	n/a
34	CTCF	chr8:111571861-111572061	HepG2	liver:	n/a	n/a
35	CTCF	chr8:111571880-111572030	HepG2	liver:	n/a	n/a
36	CTCF	chr8:111571860-111572010	BE2_C	brain:	n/a	n/a
37	CTCF	chr8:111571940-111572090	GM12870	blood:	n/a	n/a
38	CTCF	chr8:111571800-111571950	A549	lung:	n/a	n/a
39	CTCF	chr8:111571900-111572050	GM12865	blood:	n/a	n/a
40	CTCF	chr8:111571928-111571975	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr8:111571860-111572010	NHEK	skin:	n/a	n/a
42	CTCF	chr8:111571850-111572066	GM12878	blood:	n/a	n/a
43	CTCF	chr8:111571920-111572070	GM12874	blood:	n/a	n/a
44	CTCF	chr8:111571860-111572010	HVMF	connective:	n/a	n/a
45	CTCF	chr8:111571860-111572010	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr8:111571880-111572030	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr8:111571869-111572040	GM10266	blood:	n/a	n/a
48	CTCF	chr8:111571940-111572090	GM12873	blood:	n/a	n/a
49	CTCF	chr8:111571880-111572030	GM12865	blood:	n/a	n/a
50	CTCF	chr8:111571869-111572061	Medullo	brain:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:111564377..111566155-chr8:111573076..111575001,2	MCF-7	breast:
2	chr8:111575672..111578651-chr8:111595648..111598231,2	MCF-7	breast:
3	chr8:111606860..111609172-chr8:111612437..111615361,2	K562	blood:
4	chr8:111564377..111566155-chr8:111573076..111575001,2	MCF-7	breast:
5	chr8:111581974..111583484-chr8:111589126..111591939,2	MCF-7	breast:
6	chr8:111563681..111564416-chr8:111663211..111663982,2	MCF-7	breast:
7	chr8:111597648..111599475-chr8:111601535..111603940,2	MCF-7	breast:
8	chr8:111597648..111599475-chr8:111601535..111603940,2	MCF-7	breast:
9	chr8:111563289..111565363-chr8:111579783..111581298,2	MCF-7	breast:
10	chr8:111564585..111566803-chr8:111570856..111572872,2	K562	blood:
11	chr8:111581974..111583484-chr8:111589126..111591939,2	MCF-7	breast:
12	chr8:111519159..111521111-chr8:111524177..111525688,2	MCF-7	breast:
13	chr2:189912462..189915135-chr8:111597995..111599883,2	MCF-7	breast:
14	chr8:111519159..111521111-chr8:111524177..111525688,2	MCF-7	breast:
15	chr8:111551159..111553132-chr8:111554691..111557321,2	MCF-7	breast:
16	chr8:111554765..111555294-chr8:111669236..111669854,2	MCF-7	breast:
17	chr7:156803278..156804875-chr8:111542688..111545615,2	MCF-7	breast:
18	chr17:41466208..41468149-chr8:111587283..111588803,2	K562	blood:
19	chr8:111551159..111553132-chr8:111554691..111557321,2	MCF-7	breast:
20	chr8:111579951..111580480-chr8:111668750..111669442,2	MCF-7	breast:
21	chr15:38663825..38666657-chr8:111561522..111564455,2	MCF-7	breast:
22	chr8:111575672..111578651-chr8:111595648..111598231,2	MCF-7	breast:
23	chr8:111594065..111596990-chr8:111668768..111671358,2	MCF-7	breast:
24	chr8:111564585..111566803-chr8:111570856..111572872,2	K562	blood:
25	chr20:47537126..47538714-chr8:111554238..111556097,2	MCF-7	breast:
26	chr8:111563289..111565363-chr8:111579783..111581298,2	MCF-7	breast:
27	chr8:111561274..111563938-chr8:111668171..111670064,2	MCF-7	breast:
28	chr8:111365043..111367620-chr8:111553595..111556957,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-422N16.3.1-5	chr8:111567637-111568747	NONHSAT128309

No data

Variant related genes	Relation type
ENSG00000253107	TF binding region
ENSG00000188825	chromatin interactions
ENSG00000130675	chromatin interactions
ENSG00000124198	chromatin interactions
ENSG00000243479	chromatin interactions

Extended variants
information (count: 1256 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1256 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187726078	chr8:111520419-111520420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532842589	chr8:111520476-111520477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77871740	chr8:111520528-111520529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77928448	chr8:111520533-111520534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141249427	chr8:111520556-111520557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4439100	chr8:111520670-111520671	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549363820	chr8:111520682-111520683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566271307	chr8:111520707-111520708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578194484	chr8:111520732-111520733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534870938	chr8:111520769-111520770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551923540	chr8:111520807-111520808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373590111	chr8:111520810-111520811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191462033	chr8:111520840-111520841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540853163	chr8:111520894-111520895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537525718	chr8:111520937-111520938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557430337	chr8:111520950-111520951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573906199	chr8:111521059-111521060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11992695	chr8:111521075-111521076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535752887	chr8:111521092-111521093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555341553	chr8:111521094-111521095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572229719	chr8:111521101-111521102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560962476	chr8:111521108-111521109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs60701102	chr8:111521112-111521113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560245806	chr8:111521122-111521123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573693532	chr8:111521127-111521128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374470598	chr8:111521193-111521194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557514781	chr8:111521225-111521226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577359819	chr8:111521254-111521255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146221632	chr8:111521269-111521270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77604261	chr8:111521270-111521271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562369434	chr8:111521290-111521291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528841267	chr8:111521333-111521334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs59901281	chr8:111521364-111521365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547870148	chr8:111521382-111521383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559765503	chr8:111521422-111521423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528773458	chr8:111521435-111521436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552037697	chr8:111521455-111521456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372152448	chr8:111521483-111521484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376748768	chr8:111521527-111521528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571859447	chr8:111521528-111521529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551351768	chr8:111521553-111521554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368637606	chr8:111521599-111521600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531072851	chr8:111521608-111521609	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs139190904	chr8:111521609-111521610	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs372376328	chr8:111521648-111521649	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs567667349	chr8:111521671-111521672	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs78179830	chr8:111521701-111521702	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs553312835	chr8:111521717-111521718	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs183546404	chr8:111521719-111521720	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs143994771	chr8:111521757-111521758	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111520400-111521600	Enhancers	HUVEC	blood vessel
2	chr8:111521200-111522000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:111521400-111521800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:111521400-111521800	Enhancers	Colon Smooth Muscle	Colon
5	chr8:111521400-111522000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:111521400-111522000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:111521400-111522000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:111521600-111522000	Flanking Active TSS	HUVEC	blood vessel
9	chr8:111522000-111522400	Enhancers	HUVEC	blood vessel
10	chr8:111533400-111533800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:111535000-111535400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:111535000-111535400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:111535200-111535600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:111537800-111538400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr8:111538400-111538800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:111538800-111539200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr8:111548600-111550200	Active TSS	Right Atrium	heart
18	chr8:111550600-111550800	Enhancers	Pancreas	Pancrea
19	chr8:111556000-111556400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:111556200-111556600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:111556400-111556600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:111556600-111562200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:111563400-111564600	Enhancers	HMEC	breast
24	chr8:111563800-111564200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr8:111563800-111564600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:111564000-111564600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:111564200-111564600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr8:111564200-111564600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:111570000-111570600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr8:111570600-111571600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:111571800-111572600	Enhancers	Fetal Brain Male	brain
32	chr8:111572000-111572200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr8:111572000-111572600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:111572400-111572600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:111591400-111591600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:111591800-111592400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:111592400-111592600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:111592600-111597200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:111594600-111597400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:111597200-111597600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:111597400-111598000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:111597400-111598200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:111606400-111606800	Enhancers	Fetal Brain Male	brain
44	chr8:111606600-111607200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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