Variant report

Variant	nsv427822
Chromosome Location	chr8:78132650-78245590
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	ARID3A	chr8:78140091-78140204	HepG2	liver:	n/a	n/a
2	BACH1	chr8:78232662-78232709	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:78237753-78237786	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr8:78156894-78157155	Hela-S3	cervix:	n/a	n/a
5	CBX3	chr8:78222595-78223097	HCT-116	colon:	n/a	n/a
6	CEBPB	chr8:78137918-78138248	A549	lung:	n/a	chr8:78138091-78138102
7	CEBPB	chr8:78145793-78146081	K562	blood:	n/a	chr8:78145908-78145917 chr8:78145987-78145998 chr8:78145908-78145919 chr8:78145908-78145917 chr8:78145908-78145917 chr8:78145906-78145919 chr8:78145989-78145998 chr8:78145908-78145917 chr8:78145906-78145919
8	CEBPB	chr8:78185538-78185840	IMR90	lung:	n/a	chr8:78185697-78185708 chr8:78185696-78185709
9	CEBPB	chr8:78156761-78157204	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr8:78137917-78138277	HepG2	liver:	n/a	chr8:78138091-78138102
11	CEBPB	chr8:78137929-78138130	Hela-S3	cervix:	n/a	chr8:78138091-78138102
12	CEBPB	chr8:78145738-78146162	HepG2	liver:	n/a	chr8:78145908-78145917 chr8:78145987-78145998 chr8:78145908-78145919 chr8:78145908-78145917 chr8:78145908-78145917 chr8:78145906-78145919 chr8:78145989-78145998 chr8:78145908-78145917 chr8:78145906-78145919
13	CEBPB	chr8:78145756-78146143	Hela-S3	cervix:	n/a	chr8:78145908-78145917 chr8:78145987-78145998 chr8:78145908-78145919 chr8:78145908-78145917 chr8:78145908-78145917 chr8:78145906-78145919 chr8:78145989-78145998 chr8:78145908-78145917 chr8:78145906-78145919
14	CEBPB	chr8:78145745-78146144	IMR90	lung:	n/a	chr8:78145908-78145917 chr8:78145987-78145998 chr8:78145908-78145919 chr8:78145908-78145917 chr8:78145908-78145917 chr8:78145906-78145919 chr8:78145989-78145998 chr8:78145908-78145917 chr8:78145906-78145919
15	CEBPB	chr8:78140004-78140332	HepG2	liver:	n/a	chr8:78140173-78140184
16	CEBPB	chr8:78145799-78146083	H1-hESC	embryonic stem cell:	n/a	chr8:78145908-78145917 chr8:78145987-78145998 chr8:78145908-78145919 chr8:78145908-78145917 chr8:78145908-78145917 chr8:78145906-78145919 chr8:78145989-78145998 chr8:78145908-78145917 chr8:78145906-78145919
17	CEBPB	chr8:78140089-78140224	HepG2	liver:	n/a	chr8:78140173-78140184
18	CEBPB	chr8:78203436-78203528	HepG2	liver:	n/a	chr8:78203491-78203502
19	CEBPB	chr8:78145732-78146106	A549	lung:	n/a	chr8:78145908-78145917 chr8:78145987-78145998 chr8:78145908-78145919 chr8:78145908-78145917 chr8:78145908-78145917 chr8:78145906-78145919 chr8:78145989-78145998 chr8:78145908-78145917 chr8:78145906-78145919
20	CEBPB	chr8:78185530-78185844	HepG2	liver:	n/a	chr8:78185697-78185708 chr8:78185696-78185709
21	CEBPB	chr8:78179208-78179408	HepG2	liver:	n/a	chr8:78179268-78179279 chr8:78179268-78179281
22	CEBPB	chr8:78144692-78144955	A549	lung:	n/a	n/a
23	CHD2	chr8:78156794-78157143	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr8:78145056-78145099	GM13976	blood:	n/a	n/a
25	CTCF	chr8:78222840-78222990	HMF	breast:	n/a	n/a
26	CTCF	chr8:78177000-78177150	HepG2	liver:	n/a	n/a
27	CTCF	chr8:78222860-78223010	SAEC	small airway:	n/a	n/a
28	CTCF	chr8:78183160-78183310	HMF	breast:	n/a	n/a
29	CTCF	chr8:78222839-78222941	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr8:78222940-78223090	HMEC	breast:	n/a	n/a
31	CTCF	chr8:78222831-78222990	Gliobla	brain:	n/a	n/a
32	CTCF	chr8:78222838-78222968	LNCaP	prostate:	n/a	n/a
33	CTCF	chr8:78222720-78222870	HCT-116	colon:	n/a	n/a
34	CTCF	chr8:78222780-78222930	GM12869	blood:	n/a	n/a
35	CTCF	chr8:78222840-78222990	HRE	kidney:	n/a	n/a
36	CTCF	chr8:78222779-78223021	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr8:78222875-78222961	GM19240	blood:	n/a	n/a
38	CTCF	chr8:78222840-78222990	NHDF-neo	bronchial:	n/a	n/a
39	CTCF	chr8:78222780-78222930	BE2_C	brain:	n/a	n/a
40	CTCF	chr8:78222849-78222969	MCF-7	breast:	n/a	n/a
41	CTCF	chr8:78222800-78222950	HCFaa	heart:	n/a	n/a
42	CTCF	chr8:78222861-78222950	GM13977	blood:	n/a	n/a
43	CTCF	chr8:78222800-78222950	Caco-2	colon:	n/a	n/a
44	CTCF	chr8:78222800-78222950	AG04449	skin:	n/a	n/a
45	CTCF	chr8:78222780-78222930	GM12874	blood:	n/a	n/a
46	CTCF	chr8:78222773-78223012	MCF-7	breast:	n/a	n/a
47	CTCF	chr8:78222820-78222970	AG04450	lung:	n/a	n/a
48	CTCF	chr8:78222880-78223030	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chr8:78222740-78222890	HFF	foreskin:	n/a	n/a
50	CTCF	chr8:78222820-78222970	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:77279871..77280465-chr8:78222698..78223369,2	MCF-7	breast:
2	chr8:78243789..78245338-chr8:78247285..78249942,2	K562	blood:
3	chr8:78161741..78164414-chr8:78166988..78168568,2	K562	blood:
4	chr8:78161741..78164414-chr8:78166988..78168568,2	K562	blood:

Variant related genes	Relation type
ENSG00000222334	TF binding region

Extended variants
information (count: 1132 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1132 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2310742	chr8:78132657-78132658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190066860	chr8:78132662-78132663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537750165	chr8:78132687-78132688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76131918	chr8:78132782-78132783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532899961	chr8:78132820-78132821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79932651	chr8:78132919-78132920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569349749	chr8:78132961-78132962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182353078	chr8:78132991-78132992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34926085	chr8:78137011-78137012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72536757	chr8:78137020-78137021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77712209	chr8:78137022-78137023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550983903	chr8:78137034-78137035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187216308	chr8:78137066-78137067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538778764	chr8:78137087-78137088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537589246	chr8:78137107-78137108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192262349	chr8:78137146-78137147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558403997	chr8:78137178-78137179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150096819	chr8:78137186-78137187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558600181	chr8:78137190-78137191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138368779	chr8:78137202-78137203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535693228	chr8:78137214-78137215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79285338	chr8:78137263-78137264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148816050	chr8:78137265-78137266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116521454	chr8:78137274-78137275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557561154	chr8:78137310-78137311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183639144	chr8:78137368-78137369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147012911	chr8:78137387-78137388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186336483	chr8:78139608-78139609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190641987	chr8:78139623-78139624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182874748	chr8:78139632-78139633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs16939462	chr8:78139638-78139639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574726486	chr8:78139645-78139646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187312826	chr8:78139649-78139650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573865183	chr8:78139650-78139651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372147766	chr8:78139660-78139661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191406871	chr8:78139716-78139717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530179255	chr8:78139738-78139739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553194543	chr8:78139748-78139749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577317946	chr8:78139799-78139800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182680911	chr8:78139946-78139947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187797930	chr8:78139959-78139960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373604547	chr8:78139962-78139963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76731445	chr8:78156618-78156619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1377250	chr8:78156623-78156624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs367964487	chr8:78156671-78156672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535784286	chr8:78156673-78156674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554311247	chr8:78156724-78156725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565958774	chr8:78156762-78156763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539675137	chr8:78156806-78156807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77797892	chr8:78156831-78156832	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
primary effusion lymphomas	17116491	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
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
Melanoma	22183965	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
Sezary syndrome	18413736	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
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	17016436	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Urothelial cell carcinoma	18451213	CNVD
Intellectual disability	21802062	CNVD
Myelodysplastic syndrome	18508791	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78132400-78133000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:78137000-78137400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr8:78139600-78140000	Enhancers	HepG2	liver
4	chr8:78156600-78158200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:78156800-78157000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr8:78156800-78157200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:78157000-78157400	Enhancers	Hela-S3	cervix
8	chr8:78157000-78157400	Enhancers	Osteobl	bone
9	chr8:78157200-78159200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:78158800-78160000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:78158800-78160200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:78159000-78159400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:78159000-78159400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:78159200-78159600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr8:78159200-78159600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:78159400-78160000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:78159600-78159800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:78159800-78160800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr8:78164200-78164600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:78171600-78172000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:78171600-78172000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:78171600-78172000	Enhancers	Brain Germinal Matrix	brain
23	chr8:78171600-78172200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:78180800-78181200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr8:78192800-78193600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr8:78193400-78194000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr8:78193600-78194000	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr8:78205800-78206800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:78206000-78207000	Enhancers	HUVEC	blood vessel
30	chr8:78206800-78207000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr8:78207000-78207200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:78207000-78207400	Flanking Active TSS	HUVEC	blood vessel
33	chr8:78207000-78207800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:78207200-78207400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr8:78207400-78208000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:78207400-78208200	Enhancers	HUVEC	blood vessel
37	chr8:78207800-78213000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:78208000-78212200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:78208200-78212200	Weak transcription	HUVEC	blood vessel
40	chr8:78212200-78213800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:78212200-78213800	Enhancers	HUVEC	blood vessel
42	chr8:78212600-78213600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:78213000-78213800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:78213800-78214800	Weak transcription	HUVEC	blood vessel
45	chr8:78213800-78220600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:78213800-78221200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:78214800-78215000	Enhancers	HUVEC	blood vessel
48	chr8:78215000-78215200	Weak transcription	HUVEC	blood vessel
49	chr8:78220600-78222600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:78221200-78221600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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