Variant report

Variant	nsv1012595
Chromosome Location	chr1:193648643-193682630
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	ATF1	chr1:193659057-193659080	K562	blood:	n/a	n/a
2	ATF1	chr1:193658299-193658408	K562	blood:	n/a	n/a
3	ATF1	chr1:193655244-193655412	K562	blood:	n/a	n/a
4	ATF3	chr1:193669965-193670500	A549	lung:	n/a	n/a
5	ATF3	chr1:193676268-193677032	A549	lung:	n/a	n/a
6	ATF3	chr1:193669993-193670545	A549	lung:	n/a	n/a
7	BACH1	chr1:193678732-193679039	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr1:193666327-193666598	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr1:193670131-193670393	GM12878	blood:	n/a	chr1:193670216-193670227 chr1:193670315-193670325 chr1:193670319-193670329
10	BCL3	chr1:193669863-193670456	A549	lung:	n/a	chr1:193670216-193670225
11	BCL3	chr1:193675791-193677268	A549	lung:	n/a	n/a
12	BCL3	chr1:193676283-193677081	A549	lung:	n/a	n/a
13	BRCA1	chr1:193676416-193677134	Hela-S3	cervix:	n/a	n/a
14	CCNT2	chr1:193655208-193655421	K562	blood:	n/a	chr1:193655329-193655349
15	CEBPB	chr1:193669924-193670477	A549	lung:	n/a	n/a
16	CEBPB	chr1:193674600-193675346	IMR90	lung:	n/a	chr1:193675155-193675166
17	CEBPB	chr1:193674723-193674905	K562	blood:	n/a	n/a
18	CEBPB	chr1:193678847-193679096	A549	lung:	n/a	chr1:193679043-193679054
19	CEBPB	chr1:193678766-193679147	A549	lung:	n/a	chr1:193679043-193679054
20	CEBPB	chr1:193676350-193676774	A549	lung:	n/a	chr1:193676544-193676553 chr1:193676544-193676553 chr1:193676542-193676555 chr1:193676544-193676553 chr1:193676543-193676554 chr1:193676542-193676553 chr1:193676544-193676553 chr1:193676542-193676555
21	CEBPB	chr1:193677016-193677090	A549	lung:	n/a	n/a
22	CEBPB	chr1:193676394-193676726	K562	blood:	n/a	chr1:193676544-193676553 chr1:193676544-193676553 chr1:193676542-193676555 chr1:193676544-193676553 chr1:193676543-193676554 chr1:193676542-193676553 chr1:193676544-193676553 chr1:193676542-193676555
23	CEBPB	chr1:193674665-193675308	HepG2	liver:	n/a	chr1:193675155-193675166
24	CEBPB	chr1:193676374-193676727	HepG2	liver:	n/a	chr1:193676544-193676553 chr1:193676544-193676553 chr1:193676542-193676555 chr1:193676544-193676553 chr1:193676543-193676554 chr1:193676542-193676553 chr1:193676544-193676553 chr1:193676542-193676555
25	CEBPB	chr1:193678737-193679155	Hela-S3	cervix:	n/a	chr1:193679043-193679054
26	CEBPB	chr1:193675974-193676147	A549	lung:	n/a	n/a
27	CEBPB	chr1:193674567-193674928	A549	lung:	n/a	n/a
28	CEBPB	chr1:193674572-193675345	Hela-S3	cervix:	n/a	chr1:193675155-193675166
29	CEBPB	chr1:193676352-193677115	IMR90	lung:	n/a	chr1:193676544-193676553 chr1:193676544-193676553 chr1:193676542-193676555 chr1:193676544-193676553 chr1:193676543-193676554 chr1:193676542-193676553 chr1:193676544-193676553 chr1:193676542-193676555
30	CEBPB	chr1:193656123-193656321	HepG2	liver:	n/a	chr1:193656206-193656217 chr1:193656208-193656219 chr1:193656266-193656277 chr1:193656208-193656217 chr1:193656208-193656217 chr1:193656208-193656217 chr1:193656208-193656217
31	CEBPB	chr1:193674494-193674976	A549	lung:	n/a	n/a
32	CEBPB	chr1:193675044-193675257	H1-hESC	embryonic stem cell:	n/a	chr1:193675155-193675166
33	CEBPB	chr1:193678796-193679122	ECC-1	luminal epithelium:	n/a	chr1:193679043-193679054
34	CEBPB	chr1:193672866-193673033	Hela-S3	cervix:	n/a	chr1:193673020-193673033 chr1:193673022-193673033 chr1:193673020-193673033 chr1:193673022-193673033
35	CEBPB	chr1:193676253-193677159	A549	lung:	n/a	chr1:193676544-193676553 chr1:193676544-193676553 chr1:193676542-193676555 chr1:193676544-193676553 chr1:193676543-193676554 chr1:193676542-193676553 chr1:193676544-193676553 chr1:193676542-193676555
36	CEBPB	chr1:193674991-193675370	A549	lung:	n/a	chr1:193675155-193675166
37	CEBPB	chr1:193675934-193677342	A549	lung:	n/a	chr1:193676544-193676553 chr1:193676544-193676553 chr1:193676542-193676555 chr1:193676544-193676553 chr1:193676543-193676554 chr1:193676542-193676553 chr1:193676544-193676553 chr1:193676542-193676555
38	CEBPB	chr1:193678790-193679123	ECC-1	luminal epithelium:	n/a	chr1:193679043-193679054
39	CEBPB	chr1:193674620-193675351	A549	lung:	n/a	chr1:193675155-193675166
40	CEBPB	chr1:193656161-193656319	K562	blood:	n/a	chr1:193656206-193656217 chr1:193656208-193656219 chr1:193656266-193656277 chr1:193656208-193656217 chr1:193656208-193656217 chr1:193656208-193656217 chr1:193656208-193656217
41	CEBPB	chr1:193676071-193677191	Hela-S3	cervix:	n/a	chr1:193676544-193676553 chr1:193676544-193676553 chr1:193676542-193676555 chr1:193676544-193676553 chr1:193676543-193676554 chr1:193676542-193676553 chr1:193676544-193676553 chr1:193676542-193676555
42	CHD2	chr1:193666450-193666523	Hela-S3	cervix:	n/a	n/a
43	CREB1	chr1:193676710-193676927	A549	lung:	n/a	n/a
44	CTCF	chr1:193677360-193677510	AG04449	skin:	n/a	n/a
45	E2F4	chr1:193670018-193670337	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr1:193676418-193677215	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr1:193668221-193668339	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr1:193674726-193674790	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr1:193666118-193666453	MCF10A-Er-Src	breast:	n/a	n/a
50	EP300	chr1:193669854-193670734	A549	lung:	n/a	chr1:193670298-193670312 chr1:193670111-193670125 chr1:193670317-193670326

No.	Distal block	Cell Line	Cell type
1	chr1:193681603..193683732-chr11:100996114..100998464,2	MCF-7	breast:
2	chr1:193678450..193681158-chr1:193682285..193685229,2	K562	blood:
3	chr1:193678450..193681158-chr1:193682285..193685229,2	K562	blood:
4	chr1:193644387..193646892-chr1:193648522..193650062,2	K562	blood:

Variant related genes	Relation type
ENSG00000237011	TF binding region

Extended variants
information (count: 897 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16835669	chr1:193648643-193648644	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540064560	chr1:193648645-193648646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192081265	chr1:193648646-193648647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182966424	chr1:193648653-193648654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552452207	chr1:193648685-193648686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570778708	chr1:193648711-193648712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375122782	chr1:193648727-193648728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188309226	chr1:193648766-193648767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531354321	chr1:193648825-193648826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12138394	chr1:193648828-193648829	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs117000400	chr1:193648871-193648872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35543876	chr1:193648931-193648932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530370011	chr1:193648954-193648955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528967252	chr1:193648977-193648978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1410402	chr1:193648980-193648981	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140060608	chr1:193648998-193648999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146937154	chr1:193649002-193649003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532705293	chr1:193649026-193649027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1410401	chr1:193649065-193649066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372595516	chr1:193649090-193649091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552284172	chr1:193649103-193649104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1410400	chr1:193649142-193649143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs34055653	chr1:193649148-193649149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369478833	chr1:193649150-193649151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1410399	chr1:193649198-193649199	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs371805842	chr1:193649215-193649216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550782206	chr1:193649217-193649218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534134624	chr1:193649314-193649315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553766824	chr1:193649395-193649396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577138070	chr1:193649427-193649428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191250363	chr1:193649457-193649458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557054077	chr1:193649574-193649575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138528715	chr1:193649627-193649628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576162870	chr1:193649665-193649666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182339491	chr1:193649685-193649686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186912306	chr1:193649714-193649715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375047907	chr1:193649741-193649742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144137207	chr1:193649763-193649764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539616288	chr1:193649774-193649775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147297465	chr1:193649810-193649811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192478158	chr1:193649842-193649843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532591950	chr1:193649843-193649844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552318920	chr1:193649895-193649896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569020723	chr1:193649898-193649899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558098979	chr1:193649950-193649951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7528755	chr1:193649951-193649952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548392246	chr1:193649964-193649965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59177852	chr1:193650062-193650063	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533918700	chr1:193650063-193650064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34809009	chr1:193650105-193650106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193644400-193648800	Weak transcription	Small Intestine	intestine
2	chr1:193647400-193649600	Weak transcription	Hela-S3	cervix
3	chr1:193647600-193650200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:193647600-193651200	Weak transcription	Fetal Intestine Large	intestine
5	chr1:193647800-193649000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:193648200-193649000	Weak transcription	Fetal Heart	heart
7	chr1:193648600-193650600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:193648800-193650600	Enhancers	Small Intestine	intestine
9	chr1:193649000-193650200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:193649000-193650400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:193649000-193651000	Enhancers	Fetal Heart	heart
12	chr1:193649400-193650200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr1:193649400-193650200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:193649400-193650200	Enhancers	Rectal Smooth Muscle	rectum
15	chr1:193649400-193650400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:193649400-193650400	Enhancers	Fetal Stomach	stomach
17	chr1:193649600-193649800	Enhancers	Hela-S3	cervix
18	chr1:193649600-193650200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:193649600-193650200	Enhancers	Brain Germinal Matrix	brain
20	chr1:193649600-193650200	Enhancers	Stomach Smooth Muscle	stomach
21	chr1:193649600-193650400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:193649600-193650400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr1:193649800-193650200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:193649800-193650200	Enhancers	Colon Smooth Muscle	Colon
25	chr1:193649800-193650400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:193649800-193650800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:193650000-193650200	Enhancers	Left Ventricle	heart
28	chr1:193650000-193650400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:193650200-193650600	Enhancers	Brain Hippocampus Middle	brain
30	chr1:193650200-193651000	Enhancers	Fetal Intestine Small	intestine
31	chr1:193650200-193651200	Weak transcription	Brain Germinal Matrix	brain
32	chr1:193650400-193655800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:193650600-193651200	Weak transcription	Small Intestine	intestine
34	chr1:193650800-193653200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:193651200-193651400	Enhancers	Fetal Intestine Large	intestine
36	chr1:193651200-193651400	Enhancers	Small Intestine	intestine
37	chr1:193651200-193652000	Enhancers	Brain Germinal Matrix	brain
38	chr1:193652000-193653600	Weak transcription	Brain Germinal Matrix	brain
39	chr1:193653200-193654000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:193653600-193653800	Enhancers	Brain Germinal Matrix	brain
41	chr1:193654200-193656800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:193654200-193657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:193654400-193656400	Enhancers	Primary hematopoietic stem cells	blood
44	chr1:193654400-193656800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:193655800-193656400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr1:193664200-193664400	Enhancers	Brain Germinal Matrix	brain
47	chr1:193664600-193665000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:193665000-193665200	Enhancers	Brain Germinal Matrix	brain
49	chr1:193665600-193665800	Active TSS	A549	lung
50	chr1:193665800-193666000	Enhancers	A549	lung

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