Variant report

Variant	nsv607008
Chromosome Location	chr7:53009355-53068819
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	CBX3	chr7:53053123-53053374	K562	blood:	n/a	n/a
2	CEBPB	chr7:53030460-53030730	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:53020728-53020955	A549	lung:	n/a	chr7:53020864-53020875
4	CEBPB	chr7:53030413-53030728	A549	lung:	n/a	n/a
5	CEBPB	chr7:53030455-53030731	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr7:53049612-53049915	HepG2	liver:	n/a	chr7:53049739-53049752 chr7:53049740-53049751 chr7:53049785-53049796
7	CEBPB	chr7:53049704-53049817	K562	blood:	n/a	chr7:53049739-53049752 chr7:53049740-53049751 chr7:53049785-53049796
8	CEBPB	chr7:53020727-53021059	IMR90	lung:	n/a	chr7:53020864-53020875
9	CEBPB	chr7:53020732-53021027	HepG2	liver:	n/a	chr7:53020864-53020875
10	CEBPB	chr7:53030481-53030703	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr7:53030356-53030814	MCF-7	breast:	n/a	n/a
12	CTCF	chr7:53066550-53066577	MCF-7	breast:	n/a	n/a
13	CTCF	chr7:53066504-53066534	GM20000	blood:	n/a	n/a
14	CTCF	chr7:53066526-53066644	MCF-7	breast:	n/a	n/a
15	CTCF	chr7:53066380-53066530	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr7:53049460-53049610	GM12878	blood:	n/a	n/a
17	CTCF	chr7:53066557-53066587	Gliobla	brain:	n/a	n/a
18	CTCF	chr7:53066360-53066510	BE2_C	brain:	n/a	n/a
19	CTCF	chr7:53066460-53066610	RPTEC	kidney:	n/a	n/a
20	EBF1	chr7:53023106-53023217	GM12878	blood:	n/a	n/a
21	FOS	chr7:53023943-53024513	HUVEC	blood vessel:	n/a	n/a
22	FOS	chr7:53012432-53013018	HUVEC	blood vessel:	n/a	chr7:53012827-53012834 chr7:53012825-53012836 chr7:53012827-53012836
23	FOS	chr7:53012688-53012888	MCF10A-Er-Src	breast:	n/a	chr7:53012827-53012834 chr7:53012825-53012836 chr7:53012827-53012836
24	FOSL2	chr7:53012626-53013046	MCF-7	breast:	n/a	chr7:53012827-53012834 chr7:53012827-53012836
25	GABPA	chr7:53041785-53041837	GM12878	blood:	n/a	n/a
26	GATA2	chr7:53023054-53024549	HUVEC	blood vessel:	n/a	n/a
27	GATA2	chr7:53023237-53023856	SH-SY5Y	brain:	n/a	n/a
28	GATA2	chr7:53026876-53027506	HUVEC	blood vessel:	n/a	n/a
29	GATA3	chr7:53009713-53009970	SH-SY5Y	brain:	n/a	chr7:53009941-53009950
30	GATA3	chr7:53014955-53015122	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr7:53058315-53058421	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr7:53056699-53056762	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr7:53012603-53013264	MCF-7	breast:	n/a	n/a
34	GATA3	chr7:53024197-53024572	T-47D	breast:	n/a	n/a
35	GATA3	chr7:53012569-53013076	MCF-7	breast:	n/a	n/a
36	GATA3	chr7:53056129-53056436	SH-SY5Y	brain:	n/a	n/a
37	GATA3	chr7:53063602-53063701	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr7:53023186-53023669	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr7:53027071-53027402	MCF-7	breast:	n/a	n/a
40	IRF1	chr7:53064852-53064895	K562	blood:	n/a	n/a
41	IRF3	chr7:53048756-53048792	GM12878	blood:	n/a	n/a
42	JUN	chr7:53028633-53029202	HUVEC	blood vessel:	n/a	n/a
43	JUND	chr7:53016415-53016526	H1-hESC	embryonic stem cell:	n/a	n/a
44	KAP1	chr7:53053113-53053435	K562	blood:	n/a	n/a
45	MAFF	chr7:53052682-53052906	HepG2	liver:	n/a	chr7:53052744-53052762
46	MAFK	chr7:53055223-53055403	HepG2	liver:	n/a	n/a
47	MAFK	chr7:53052666-53052866	HepG2	liver:	n/a	n/a
48	NR2F2	chr7:53012676-53012988	MCF-7	breast:	n/a	n/a
49	NRF1	chr7:53047995-53048057	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr7:53034648-53034700	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000223970	TF binding region

Extended variants
information (count: 1840 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:1840 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1731320	chr7:53009355-53009356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145347596	chr7:53009369-53009370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1689296	chr7:53009380-53009381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1319554	chr7:53009403-53009404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs144164440	chr7:53009428-53009429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372228898	chr7:53009433-53009434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530909705	chr7:53009486-53009487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1689297	chr7:53009493-53009494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374370450	chr7:53009504-53009505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564607269	chr7:53009516-53009517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1157013	chr7:53009521-53009522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188917739	chr7:53009525-53009526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77146293	chr7:53009531-53009532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs118042850	chr7:53009541-53009542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181614960	chr7:53009603-53009604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117847998	chr7:53009639-53009640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184706471	chr7:53009646-53009647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1689298	chr7:53009688-53009689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73701234	chr7:53009691-53009692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577692674	chr7:53009696-53009697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201671511	chr7:53009754-53009755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533523213	chr7:53009780-53009781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553386648	chr7:53009800-53009801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573179975	chr7:53009811-53009812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182508605	chr7:53009816-53009817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542165093	chr7:53009829-53009830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373474652	chr7:53009867-53009868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1689299	chr7:53009877-53009878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs149198661	chr7:53009903-53009904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1731319	chr7:53009924-53009925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185857932	chr7:53009944-53009945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12539572	chr7:53010061-53010062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546652935	chr7:53010072-53010073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12673377	chr7:53010082-53010083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13226881	chr7:53010090-53010091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs191113825	chr7:53010132-53010133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549260580	chr7:53010137-53010138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143385017	chr7:53010147-53010148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73115340	chr7:53010211-53010212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs1689300	chr7:53010233-53010234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs545330065	chr7:53010276-53010277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533915461	chr7:53010336-53010337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181075429	chr7:53010379-53010380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1689301	chr7:53010391-53010392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs370792899	chr7:53010396-53010397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555610855	chr7:53010430-53010431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34213934	chr7:53010438-53010439	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs113536324	chr7:53010466-53010467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs55924429	chr7:53010481-53010482	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539414601	chr7:53010482-53010483	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53008800-53010400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:53009000-53009400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr7:53010400-53010600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:53012200-53013200	Enhancers	HUVEC	blood vessel
5	chr7:53015800-53017200	Enhancers	Fetal Heart	heart
6	chr7:53015800-53018400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:53016000-53017000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:53016000-53017000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:53016000-53017000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:53016000-53017000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:53016000-53017200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:53016000-53017400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:53016200-53016800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:53016200-53017200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:53016600-53017200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:53016600-53017200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:53016600-53017400	Enhancers	Placenta	Placenta
18	chr7:53016800-53017400	Enhancers	Ovary	ovary
19	chr7:53016800-53023400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:53017200-53023400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:53017200-53026200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:53017200-53026800	Weak transcription	Fetal Heart	heart
23	chr7:53018400-53023400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:53022600-53024000	Enhancers	HUVEC	blood vessel
25	chr7:53022600-53025200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:53023000-53023600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:53023000-53025000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr7:53023000-53031000	Enhancers	Placenta	Placenta
29	chr7:53023200-53023400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:53023200-53024000	Enhancers	Ovary	ovary
31	chr7:53023200-53024200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:53023200-53024800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr7:53023200-53024800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:53023400-53023600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:53023400-53023800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:53023400-53024600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:53023400-53025000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:53023400-53025400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:53023600-53024000	Enhancers	Fetal Intestine Small	intestine
40	chr7:53023600-53024000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr7:53023600-53024600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:53023600-53026800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr7:53023600-53027200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:53023600-53040000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:53023800-53025800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:53024000-53024400	Enhancers	Fetal Intestine Large	intestine
47	chr7:53024000-53024600	Active TSS	Ovary	ovary
48	chr7:53024000-53024600	Flanking Active TSS	HUVEC	blood vessel
49	chr7:53024000-53024800	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr7:53024000-53025800	Weak transcription	Fetal Intestine Small	intestine

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