Variant report

Variant	nsv608350
Chromosome Location	chr7:125461881-125607878
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	ATF2	chr7:125606321-125606646	GM12878	blood:	n/a	n/a
2	BATF	chr7:125463611-125463967	GM12878	blood:	n/a	n/a
3	CBX3	chr7:125574542-125575099	HCT-116	colon:	n/a	n/a
4	CBX3	chr7:125574517-125575153	HCT-116	colon:	n/a	n/a
5	CCNT2	chr7:125507517-125507664	K562	blood:	n/a	n/a
6	CCNT2	chr7:125569775-125569946	K562	blood:	n/a	n/a
7	CEBPB	chr7:125553556-125553759	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr7:125516506-125516823	HepG2	liver:	n/a	chr7:125516666-125516677
9	CEBPB	chr7:125578989-125579221	A549	lung:	n/a	chr7:125579076-125579087
10	CEBPB	chr7:125586220-125586477	A549	lung:	n/a	chr7:125586287-125586298 chr7:125586287-125586296
11	CEBPB	chr7:125469461-125469743	IMR90	lung:	n/a	chr7:125469586-125469597
12	CEBPB	chr7:125518695-125519476	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr7:125497039-125497286	HepG2	liver:	n/a	n/a
14	CEBPB	chr7:125516469-125516872	Hela-S3	cervix:	n/a	chr7:125516666-125516677
15	CEBPB	chr7:125516622-125516826	A549	lung:	n/a	chr7:125516666-125516677
16	CEBPB	chr7:125577494-125577627	HepG2	liver:	n/a	chr7:125577588-125577599 chr7:125577589-125577598 chr7:125577589-125577598 chr7:125577587-125577600 chr7:125577587-125577600 chr7:125577589-125577598 chr7:125577587-125577598 chr7:125577589-125577598
17	CEBPB	chr7:125603406-125603606	IMR90	lung:	n/a	chr7:125603411-125603422
18	CEBPB	chr7:125469485-125469753	A549	lung:	n/a	chr7:125469586-125469597
19	CEBPB	chr7:125517391-125517767	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr7:125586265-125586333	K562	blood:	n/a	chr7:125586287-125586298 chr7:125586287-125586296
21	CEBPB	chr7:125603367-125603565	K562	blood:	n/a	chr7:125603411-125603422
22	CEBPB	chr7:125578941-125579239	IMR90	lung:	n/a	chr7:125579076-125579087
23	CEBPB	chr7:125578930-125579240	HepG2	liver:	n/a	chr7:125579076-125579087
24	CEBPB	chr7:125539818-125539959	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr7:125588846-125589425	HepG2	liver:	n/a	chr7:125588880-125588891 chr7:125589282-125589293
26	CEBPB	chr7:125579018-125579149	K562	blood:	n/a	chr7:125579076-125579087
27	CEBPB	chr7:125505949-125506035	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr7:125469475-125469633	H1-hESC	embryonic stem cell:	n/a	chr7:125469586-125469597
29	CEBPB	chr7:125469453-125469653	HepG2	liver:	n/a	chr7:125469586-125469597
30	CEBPB	chr7:125487686-125487951	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr7:125603329-125603585	HepG2	liver:	n/a	chr7:125603411-125603422
32	CTCF	chr7:125517465-125517523	Gliobla	brain:	n/a	n/a
33	CTCF	chr7:125539660-125539810	NB4	blood:	n/a	n/a
34	CTCF	chr7:125539760-125539910	HEK293	kidney:	n/a	n/a
35	CTCF	chr7:125539880-125540030	BE2_C	brain:	n/a	n/a
36	CTCF	chr7:125517430-125517568	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr7:125542323-125542428	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr7:125539980-125540130	MCF-7	breast:	n/a	n/a
39	CTCF	chr7:125512380-125512530	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr7:125539840-125539990	HCT-116	colon:	n/a	n/a
41	CTCF	chr7:125539820-125539970	GM12872	blood:	n/a	n/a
42	CTCF	chr7:125474639-125474684	Fibrobl	skin:	n/a	n/a
43	CTCF	chr7:125483340-125483490	HAc	cerebellar:	n/a	n/a
44	CTCF	chr7:125574820-125574970	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr7:125539720-125539870	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr7:125473392-125473463	Fibrobl	skin:	n/a	n/a
47	CTCF	chr7:125539700-125539850	BE2_C	brain:	n/a	n/a
48	CTCF	chr7:125473622-125473747	Gliobla	brain:	n/a	n/a
49	CTCF	chr7:125539660-125539810	BE2_C	brain:	n/a	n/a
50	CTCF	chr7:125545120-125545270	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:125503485..125505838-chr7:125510638..125513517,2	K562	blood:
2	chr7:125458557..125461124-chr7:125464853..125467696,2	K562	blood:
3	chr7:125480828..125483147-chr7:125484662..125486648,3	K562	blood:
4	chr7:125574020..125576631-chr7:125579427..125582036,2	K562	blood:
5	chr7:125531353..125533872-chr7:125536141..125538542,2	K562	blood:
6	chr7:125466756..125469484-chr9:139938867..139941802,2	MCF-7	breast:
7	chr7:125480828..125483147-chr7:125484662..125486648,3	K562	blood:
8	chr7:125392984..125395323-chr7:125485232..125486912,2	K562	blood:
9	chr7:125606198..125608530-chr7:125608776..125611774,2	K562	blood:
10	chr7:125574020..125576631-chr7:125579427..125582036,2	K562	blood:
11	chr7:125598344..125601168-chr7:125601374..125603496,2	K562	blood:
12	chr7:125598344..125601168-chr7:125601374..125603496,2	K562	blood:
13	chr7:125503485..125505838-chr7:125510638..125513517,2	K562	blood:
14	chr7:125531353..125533872-chr7:125536141..125538542,2	K562	blood:
15	chr7:125458557..125461124-chr7:125464853..125467696,3	K562	blood:
16	chr7:125459178..125461778-chr7:125471242..125473065,2	K562	blood:
17	chr7:125449848..125452738-chr7:125466258..125468115,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-6	chr7:125557925-125558172	XLOC_006234
2	lnc-ARF5-6	chr7:125563748-125564004	XLOC_006234
3	lnc-ARF5-6	chr7:125560111-125560207	XLOC_006234
4	lnc-ARF5-6	chr7:125573828-125573886	XLOC_006234
5	lnc-ARF5-6	chr7:125564266-125564441	XLOC_006234

Variant related genes	Relation type
ENSG00000197462	TF binding region
ENSG00000107281	chromatin interactions

Extended variants
information (count: 3677 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:3677 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576585921	chr7:125466809-125466810	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566656127	chr7:125466810-125466811	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527522813	chr7:125466824-125466825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369622007	chr7:125466841-125466842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549284864	chr7:125466902-125466903	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372993793	chr7:125466927-125466928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10235726	chr7:125466937-125466938	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183003996	chr7:125466977-125466978	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559256347	chr7:125467020-125467021	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs574361473	chr7:125467021-125467022	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188228861	chr7:125467044-125467045	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377161214	chr7:125467062-125467063	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571680231	chr7:125467094-125467095	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10235875	chr7:125467100-125467101	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543279253	chr7:125467128-125467129	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192799587	chr7:125467140-125467141	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs117992460	chr7:125467186-125467187	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144741987	chr7:125467217-125467218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs75399037	chr7:125467221-125467222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113444030	chr7:125467244-125467245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576298726	chr7:125467260-125467261	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs147890735	chr7:125467281-125467282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528681571	chr7:125467309-125467310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562135264	chr7:125467311-125467312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs532835955	chr7:125467361-125467362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141553790	chr7:125467380-125467381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560024910	chr7:125467403-125467404	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527398634	chr7:125467416-125467417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549172734	chr7:125467424-125467425	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545562459	chr7:125467425-125467426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs74397088	chr7:125467484-125467485	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531597585	chr7:125467488-125467489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs725090	chr7:125467489-125467490	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571609596	chr7:125467504-125467505	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114995227	chr7:125467513-125467514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567622175	chr7:125467520-125467521	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs117992530	chr7:125467521-125467522	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs143678359	chr7:125467539-125467540	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73720053	chr7:125467548-125467549	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554696847	chr7:125467575-125467576	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs725093	chr7:125467588-125467589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs201346629	chr7:125467590-125467591	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549155332	chr7:125467592-125467593	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141074799	chr7:125467605-125467606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs35100471	chr7:125467606-125467607	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370051893	chr7:125467607-125467608	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs76404143	chr7:125467608-125467609	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs151034930	chr7:125467613-125467614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568408083	chr7:125467623-125467624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184902418	chr7:125467659-125467660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125472600-125481800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:125474000-125474800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:125481800-125482000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:125486400-125486600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:125486800-125489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:125487000-125487600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
7	chr7:125487400-125487600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr7:125487400-125487800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr7:125487400-125488400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr7:125487600-125488000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:125487600-125488200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:125487600-125488200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:125487600-125488400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:125487600-125488600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:125487600-125488600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:125487800-125488200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:125488000-125488200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:125488000-125488400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:125488200-125488400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:125488200-125488400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:125488200-125488600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:125488200-125488800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:125488400-125488600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:125488400-125488600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:125488400-125488800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:125488400-125488800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:125488400-125491400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:125488800-125489000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:125488800-125490200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:125490200-125490600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr7:125490400-125490600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:125493400-125493600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:125515400-125515800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:125516000-125516600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
35	chr7:125516400-125518400	Enhancers	Hela-S3	cervix
36	chr7:125518400-125518800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:125518400-125518800	Flanking Active TSS	Hela-S3	cervix
38	chr7:125518800-125519200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:125518800-125519200	Active TSS	Hela-S3	cervix
40	chr7:125519200-125519600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:125519200-125519600	Flanking Active TSS	Hela-S3	cervix
42	chr7:125519600-125519800	Enhancers	Hela-S3	cervix
43	chr7:125533200-125534600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:125545600-125549200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
45	chr7:125545600-125557800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:125546200-125546800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
47	chr7:125548600-125549200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr7:125549200-125549400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:125549400-125553400	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr7:125550400-125551000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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