Variant report

Variant	esv3480533
Chromosome Location	chr8:86278274-86291113
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:128)
CpG islands
(count:245)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:128 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:86290333-86290829	K562	blood:	n/a	n/a
2	ATF1	chr8:86290328-86290675	K562	blood:	n/a	n/a
3	BHLHE40	chr8:86290345-86290622	K562	blood:	n/a	n/a
4	CCNT2	chr8:86290303-86290726	K562	blood:	n/a	n/a
5	CEBPB	chr8:86290307-86290620	K562	blood:	n/a	n/a
6	CEBPB	chr8:86290298-86290682	K562	blood:	n/a	n/a
7	CEBPD	chr8:86290218-86290805	K562	blood:	n/a	n/a
8	CEBPD	chr8:86290197-86290817	K562	blood:	n/a	n/a
9	CHD2	chr8:86290412-86290524	K562	blood:	n/a	n/a
10	CTCF	chr8:86283200-86283350	HEEpiC	esophagus:	n/a	chr8:86283272-86283293
11	CTCF	chr8:86283229-86283359	MCF-7	breast:	n/a	chr8:86283272-86283293
12	CTCF	chr8:86283160-86283310	MCF-7	breast:	n/a	chr8:86283272-86283293
13	CTCF	chr8:86278449-86278547	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr8:86287440-86287590	GM12864	blood:	n/a	n/a
15	CTCF	chr8:86283174-86283397	MCF-7	breast:	n/a	chr8:86283272-86283293
16	CTCF	chr8:86283198-86283381	MCF-7	breast:	n/a	chr8:86283272-86283293
17	CTCF	chr8:86283226-86283343	Pancreas_OC	pancreas:	n/a	chr8:86283272-86283293
18	CTCF	chr8:86287526-86287636	MCF-7	breast:	n/a	n/a
19	CTCF	chr8:86283161-86283345	K562	blood:	n/a	chr8:86283272-86283293
20	CTCF	chr8:86287460-86287610	HEK293	kidney:	n/a	n/a
21	CTCF	chr8:86287520-86287670	MCF-7	breast:	n/a	n/a
22	CTCF	chr8:86283320-86283470	HMEC	breast:	n/a	n/a
23	CTCF	chr8:86287523-86287636	MCF-7	breast:	n/a	n/a
24	CTCF	chr8:86283236-86283335	K562	blood:	n/a	chr8:86283272-86283293
25	CTCF	chr8:86287480-86287630	MCF-7	breast:	n/a	n/a
26	CTCF	chr8:86283220-86283370	MCF-7	breast:	n/a	chr8:86283272-86283293
27	CTCF	chr8:86283174-86283427	MCF-7	breast:	n/a	chr8:86283272-86283293
28	CUX1	chr8:86290385-86290882	K562	blood:	n/a	chr8:86290627-86290636
29	E2F4	chr8:86282889-86283188	MCF10A-Er-Src	breast:	n/a	n/a
30	ELK1	chr8:86290404-86290538	K562	blood:	n/a	n/a
31	EP300	chr8:86283917-86284167	GM12878	blood:	n/a	chr8:86284038-86284052
32	EP300	chr8:86290332-86290649	GM12878	blood:	n/a	n/a
33	EP300	chr8:86283881-86284229	GM12878	blood:	n/a	chr8:86284038-86284052
34	EP300	chr8:86290298-86290775	K562	blood:	n/a	n/a
35	EP300	chr8:86290348-86290761	K562	blood:	n/a	n/a
36	GABPA	chr8:86290313-86290697	K562	blood:	n/a	n/a
37	GATA1	chr8:86290137-86291170	K562	blood:	n/a	n/a
38	GATA1	chr8:86290303-86290642	K562	blood:	n/a	n/a
39	GATA1	chr8:86290032-86290972	PBDE	blood:	n/a	n/a
40	GATA2	chr8:86290236-86290691	K562	blood:	n/a	n/a
41	GATA2	chr8:86290305-86290742	K562	blood:	n/a	n/a
42	GATA2	chr8:86290220-86290753	K562	blood:	n/a	n/a
43	HDAC2	chr8:86290310-86290663	K562	blood:	n/a	n/a
44	HMGN3	chr8:86290308-86290673	K562	blood:	n/a	n/a
45	IRF1	chr8:86290336-86290855	K562	blood:	n/a	n/a
46	IRF1	chr8:86290274-86290646	K562	blood:	n/a	n/a
47	IRF1	chr8:86286889-86287054	K562	blood:	n/a	n/a
48	IRF1	chr8:86286896-86286991	K562	blood:	n/a	n/a
49	IRF1	chr8:86290266-86290683	K562	blood:	n/a	n/a
50	IRF3	chr8:86281768-86281779	GM12878	blood:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:86290432-86290482	NHDF-neo	bronchial:	n/a
2	chr8:86290432-86290482	NHDF-neo	bronchial:	n/a
3	chr8:86290219-86290269	PFSK-1	brain:	n/a
4	chr8:86290432-86290482	Hela-S3	cervix:	n/a
5	chr8:86290689-86290739	NT2-D1	testis:	n/a
6	chr8:86290432-86290482	Caco-2	colon:	n/a
7	chr8:86290432-86290482	H1-hESC	embryonic stem cell:	embryo
8	chr8:86290878-86290928	NH-A	brain:	n/a
9	chr8:86290219-86290269	SK-N-MC	brain:	n/a
10	chr8:86290878-86290928	NB4	blood:	n/a
11	chr8:86290219-86290269	H1-hESC	embryonic stem cell:	embryo
12	chr8:86290219-86290269	CMK	blood:	n/a
13	chr8:86290219-86290269	GM12878	blood:	n/a
14	chr8:86290219-86290269	SK-N-SH	brain:	n/a
15	chr8:86290878-86290928	MCF-7	breast:	n/a
16	chr8:86290689-86290739	AG04450	lung:	fetal
17	chr8:86290432-86290482	SK-N-SH	brain:	n/a
18	chr8:86290689-86290739	LNCaP	prostate:	n/a
19	chr8:86290432-86290482	HMEC	breast:	n/a
20	chr8:86290689-86290739	ProgFib	skin:	n/a
21	chr8:86290432-86290482	PFSK-1	brain:	n/a
22	chr8:86290219-86290269	MCF-7	breast:	n/a
23	chr8:86290878-86290928	HCM	heart:	n/a
24	chr8:86290432-86290482	NH-A	brain:	n/a
25	chr8:86290219-86290269	SAEC	small airway:	n/a
26	chr8:86290432-86290482	HCM	heart:	n/a
27	chr8:86290219-86290269	AG09309	skin:	n/a
28	chr8:86290878-86290928	Caco-2	colon:	n/a
29	chr8:86290219-86290269	Jurkat	blood:	n/a
30	chr8:86290432-86290482	HPAEpiC	pulmonary alveolar:	n/a
31	chr8:86290689-86290739	NHBE	bronchial:	n/a
32	chr8:86290219-86290269	BE2_C	brain:	n/a
33	chr8:86290432-86290482	GM12891	blood:	n/a
34	chr8:86290878-86290928	PANC-1	pancreas:	n/a
35	chr8:86290878-86290928	HEK293	kidney:	embryo
36	chr8:86290219-86290269	Hepatocyte	liver:	n/a
37	chr8:86290689-86290739	HUVEC	blood vessel:	n/a
38	chr8:86290689-86290739	AG09319	gingival:	n/a
39	chr8:86290432-86290482	HCPEpiC	choroid plexus:	n/a
40	chr8:86290219-86290269	NHBE	bronchial:	n/a
41	chr8:86290878-86290928	GM06990	blood:	n/a
42	chr8:86290689-86290739	NHDF-neo	bronchial:	n/a
43	chr8:86290689-86290739	H1-hESC	embryonic stem cell:	embryo
44	chr8:86290219-86290269	GM12892	blood:	n/a
45	chr8:86290689-86290739	BJ	skin:	n/a
46	chr8:86290689-86290739	HEEpiC	esophagus:	n/a
47	chr8:86290432-86290482	HCF	heart:	n/a
48	chr8:86290689-86290739	ovcar-3	ovarian:	n/a
49	chr8:86290878-86290928	U87	brain:	n/a
50	chr8:86290878-86290928	HCPEpiC	choroid plexus:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:85542893..85545480-chr8:86287576..86290240,2	MCF-7	breast:
2	chr8:86209363..86209968-chr8:86283005..86283748,2	MCF-7	breast:
3	chr8:86211093..86212034-chr8:86283049..86283804,4	MCF-7	breast:
4	chr8:86222565..86224096-chr8:86281520..86283708,2	MCF-7	breast:

No data

Variant related genes	Relation type
CA3	TF binding region
CA1	TF binding region
CA3	CpG island
CA1	CpG island

Extended variants
information (count: 415 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:415 , 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	rs545318310	chr8:86278315-86278316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558549310	chr8:86278333-86278334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575469322	chr8:86278349-86278350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576370388	chr8:86278364-86278365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75988238	chr8:86278373-86278374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7824715	chr8:86278377-86278378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs201078609	chr8:86278390-86278391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76035315	chr8:86278391-86278392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201897564	chr8:86278394-86278395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11395706	chr8:86278402-86278403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79172571	chr8:86278411-86278412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6605615	chr8:86278434-86278435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540327729	chr8:86278472-86278473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144001442	chr8:86278478-86278479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188484909	chr8:86278485-86278486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148669758	chr8:86278494-86278495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74591748	chr8:86278499-86278500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565454419	chr8:86278567-86278568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375451443	chr8:86278607-86278608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113681192	chr8:86278609-86278610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550564934	chr8:86278639-86278640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567316203	chr8:86278664-86278665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2725292	chr8:86278678-86278679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs116668797	chr8:86278684-86278685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566686055	chr8:86278692-86278693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556579269	chr8:86278805-86278806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371615270	chr8:86278840-86278841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117784700	chr8:86278854-86278855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558686479	chr8:86278862-86278863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545721488	chr8:86278874-86278875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375014317	chr8:86278890-86278891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75642394	chr8:86278899-86278900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538094156	chr8:86278943-86278944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554651771	chr8:86278983-86278984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191823999	chr8:86278989-86278990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141280342	chr8:86279010-86279011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559970838	chr8:86279059-86279060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182821306	chr8:86279162-86279163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187172547	chr8:86279269-86279270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191541750	chr8:86279293-86279294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531156257	chr8:86279325-86279326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201916130	chr8:86279347-86279348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550851124	chr8:86279367-86279368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560978401	chr8:86279419-86279420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80157317	chr8:86279440-86279441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150742816	chr8:86279457-86279458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35486654	chr8:86279491-86279492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566870526	chr8:86279505-86279506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539085344	chr8:86279536-86279537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375378469	chr8:86279566-86279567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86265200-86283200	Weak transcription	Fetal Intestine Large	intestine
2	chr8:86267400-86288800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:86276000-86287600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:86277400-86283200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:86278000-86278400	Enhancers	Fetal Intestine Small	intestine
6	chr8:86278200-86282200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:86278400-86283200	Weak transcription	Fetal Intestine Small	intestine
8	chr8:86281200-86282400	Enhancers	Adipose Nuclei	Adipose
9	chr8:86281600-86282200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:86281800-86282400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:86282200-86282400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr8:86282400-86286200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:86283200-86283400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr8:86283200-86283400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr8:86283200-86284600	Enhancers	Duodenum Mucosa	Duodenum
16	chr8:86283200-86284800	Enhancers	Fetal Intestine Large	intestine
17	chr8:86283200-86284800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr8:86283200-86285200	Enhancers	Fetal Intestine Small	intestine
19	chr8:86283400-86283800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr8:86283400-86284600	Enhancers	GM12878-XiMat	blood
21	chr8:86283600-86284200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr8:86283600-86284200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:86283600-86284400	Enhancers	Primary B cells from peripheral blood	blood
24	chr8:86284000-86284200	Enhancers	K562	blood
25	chr8:86284200-86284600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr8:86284200-86290200	Weak transcription	K562	blood
27	chr8:86284400-86284600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr8:86284800-86285200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr8:86285200-86315400	Weak transcription	Fetal Intestine Small	intestine
30	chr8:86286800-86287400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr8:86287800-86288000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:86288000-86291400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:86290200-86290600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:86290200-86291000	Flanking Active TSS	K562	blood
35	chr8:86291000-86292600	Enhancers	K562	blood

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