Variant report

Variant	nsv888946
Chromosome Location	chr7:108592224-108644939
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	chr7:108596178-108596325	K562	blood:	n/a	n/a
2	BACH1	chr7:108643923-108644142	H1-hESC	embryonic stem cell:	n/a	chr7:108644081-108644095 chr7:108643931-108643945
3	CEBPB	chr7:108637596-108637903	H1-hESC	embryonic stem cell:	n/a	chr7:108637741-108637752
4	CEBPB	chr7:108637556-108637993	A549	lung:	n/a	chr7:108637741-108637752
5	CEBPB	chr7:108637564-108637917	Hela-S3	cervix:	n/a	chr7:108637741-108637752
6	CEBPB	chr7:108596426-108596673	A549	lung:	n/a	n/a
7	CEBPB	chr7:108634138-108634338	HepG2	liver:	n/a	chr7:108634223-108634234
8	CEBPB	chr7:108603764-108603964	K562	blood:	n/a	chr7:108603880-108603891 chr7:108603824-108603835
9	CEBPB	chr7:108634057-108634316	Hela-S3	cervix:	n/a	chr7:108634223-108634234
10	CEBPB	chr7:108637582-108637873	MCF-7	breast:	n/a	chr7:108637741-108637752
11	CEBPB	chr7:108599897-108600000	HepG2	liver:	n/a	chr7:108599933-108599944
12	CEBPB	chr7:108634117-108634358	A549	lung:	n/a	chr7:108634223-108634234
13	CEBPB	chr7:108637554-108637918	HepG2	liver:	n/a	chr7:108637741-108637752
14	CEBPB	chr7:108637666-108637876	K562	blood:	n/a	chr7:108637741-108637752
15	CEBPB	chr7:108603762-108604002	Hela-S3	cervix:	n/a	chr7:108603880-108603891 chr7:108603824-108603835
16	CEBPB	chr7:108637577-108637919	A549	lung:	n/a	chr7:108637741-108637752
17	CEBPB	chr7:108637588-108637897	IMR90	lung:	n/a	chr7:108637741-108637752
18	CEBPB	chr7:108603721-108604000	HepG2	liver:	n/a	chr7:108603880-108603891 chr7:108603824-108603835
19	CEBPB	chr7:108603749-108604034	A549	lung:	n/a	chr7:108603880-108603891 chr7:108603824-108603835
20	CEBPB	chr7:108637640-108637775	HepG2	liver:	n/a	chr7:108637741-108637752
21	CTCF	chr7:108613240-108613390	GM06990	blood:	n/a	chr7:108613300-108613321
22	CTCF	chr7:108613320-108613470	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr7:108613240-108613390	Caco-2	colon:	n/a	chr7:108613300-108613321
24	CTCF	chr7:108613118-108613487	GM12878	blood:	n/a	chr7:108613300-108613321
25	CTCF	chr7:108613160-108613310	HRE	kidney:	n/a	n/a
26	CTCF	chr7:108613266-108613366	GM10248	blood:	n/a	chr7:108613300-108613321
27	CTCF	chr7:108613200-108613350	HMEC	breast:	n/a	chr7:108613300-108613321
28	CTCF	chr7:108613200-108613350	SAEC	small airway:	n/a	chr7:108613300-108613321
29	CTCF	chr7:108613120-108613270	A549	lung:	n/a	n/a
30	CTCF	chr7:108613380-108613530	A549	lung:	n/a	n/a
31	CTCF	chr7:108613200-108613350	GM06990	blood:	n/a	chr7:108613300-108613321
32	CTCF	chr7:108613200-108613350	HCPEpiC	choroid plexus:	n/a	chr7:108613300-108613321
33	CTCF	chr7:108613260-108613410	HA-sp	spinal cord:	n/a	chr7:108613300-108613321
34	CTCF	chr7:108613240-108613390	GM12873	blood:	n/a	chr7:108613300-108613321
35	CTCF	chr7:108613260-108613410	HCT-116	colon:	n/a	chr7:108613300-108613321
36	CTCF	chr7:108604681-108604703	MCF-7	breast:	n/a	n/a
37	CTCF	chr7:108613260-108613410	Caco-2	colon:	n/a	chr7:108613300-108613321
38	CTCF	chr7:108613249-108613371	GM12878	blood:	n/a	chr7:108613300-108613321
39	CTCF	chr7:108613160-108613310	BE2_C	brain:	n/a	n/a
40	CTCF	chr7:108613220-108613370	SK-N-SH_RA	brain:	n/a	chr7:108613300-108613321
41	CTCF	chr7:108613207-108613358	SK-N-SH_RA	brain:	n/a	chr7:108613300-108613321
42	CTCF	chr7:108613240-108613390	HEEpiC	esophagus:	n/a	chr7:108613300-108613321
43	CTCF	chr7:108613214-108613403	MCF-7	breast:	n/a	chr7:108613300-108613321
44	CTCF	chr7:108613180-108613330	RPTEC	kidney:	n/a	chr7:108613300-108613321
45	CTCF	chr7:108613240-108613390	BE2_C	brain:	n/a	chr7:108613300-108613321
46	CTCF	chr7:108613189-108613417	LNCaP	prostate:	n/a	chr7:108613300-108613321
47	CTCF	chr7:108613178-108613432	Medullo	brain:	n/a	chr7:108613300-108613321
48	CTCF	chr7:108613286-108613356	GM10266	blood:	n/a	chr7:108613300-108613321
49	CTCF	chr7:108613264-108613305	MCF-7	breast:	n/a	n/a
50	CTCF	chr7:108613260-108613318	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:108627088..108629313-chr7:108631998..108634024,2	K562	blood:
2	chr2:35635532..35636321-chr7:108607888..108608786,2	MCF-7	breast:
3	chr7:108591189..108592950-chr7:108595377..108596962,2	K562	blood:
4	chr7:108641165..108643599-chr7:108646876..108648824,2	K562	blood:
5	chr7:108591189..108592950-chr7:108595377..108596962,2	K562	blood:
6	chr7:108603723..108606503-chr7:108609757..108612627,3	MCF-7	breast:
7	chr13:72185609..72186252-chr7:108612075..108612701,2	MCF-7	breast:
8	chr7:108613270..108613805-chr7:108732089..108732852,2	MCF-7	breast:
9	chr7:108253317..108254250-chr7:108612859..108613643,2	MCF-7	breast:
10	chr7:108612823..108613708-chr7:108733442..108733948,2	MCF-7	breast:
11	chr7:108590037..108592950-chr7:108595377..108597587,3	K562	blood:
12	chr7:108627088..108629313-chr7:108631998..108634024,2	K562	blood:
13	chr7:108603723..108606503-chr7:108609757..108612627,3	MCF-7	breast:
14	chr7:108518923..108521599-chr7:108613932..108615872,2	K562	blood:
15	chr7:108590037..108592950-chr7:108595377..108597587,3	K562	blood:
16	chr7:108300617..108301614-chr7:108612878..108613780,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAJB9-2	chr7:108592469-108592723	XLOC_006206
2	lnc-C7orf66-3	chr7:108634088-108635086	NONHSAT122750

Variant related genes	Relation type
ENSG00000227968	TF binding region

Extended variants
information (count: 1101 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1101 , 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	rs116905162	chr7:108592509-108592510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs184861975	chr7:108592510-108592511	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs555783924	chr7:108592534-108592535	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs115090976	chr7:108592548-108592549	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs538207726	chr7:108592575-108592576	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs374161761	chr7:108592578-108592579	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs558168079	chr7:108592599-108592600	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs578104975	chr7:108592600-108592601	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs540912677	chr7:108592634-108592635	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs848316	chr7:108592654-108592655	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528564308	chr7:108592701-108592702	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs546643752	chr7:108592702-108592703	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs370022396	chr7:108592722-108592723	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs561189724	chr7:108595604-108595605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530117030	chr7:108595615-108595616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187307450	chr7:108595616-108595617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372895348	chr7:108595628-108595629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148244153	chr7:108595630-108595631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141359031	chr7:108595637-108595638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs275551	chr7:108595645-108595646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs147419105	chr7:108595664-108595665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192030404	chr7:108595714-108595715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs137930878	chr7:108595743-108595744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542947912	chr7:108595761-108595762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113847354	chr7:108595778-108595779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537142643	chr7:108595789-108595790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184626658	chr7:108595799-108595800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536099085	chr7:108595875-108595876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190460304	chr7:108595902-108595903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11768295	chr7:108595963-108595964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11768328	chr7:108596014-108596015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs147135815	chr7:108596065-108596066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73424667	chr7:108596103-108596104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139531241	chr7:108596108-108596109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193077161	chr7:108596122-108596123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558645386	chr7:108596158-108596159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543501782	chr7:108596230-108596231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185867545	chr7:108596294-108596295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532343449	chr7:108596299-108596300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77361936	chr7:108596334-108596335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559521382	chr7:108596350-108596351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528758885	chr7:108596374-108596375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533061266	chr7:108596376-108596377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367739825	chr7:108596410-108596411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568658651	chr7:108596459-108596460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566956731	chr7:108596500-108596501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557271850	chr7:108596578-108596579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149691785	chr7:108596599-108596600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570585852	chr7:108596601-108596602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539031031	chr7:108596618-108596619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Acute myeloid leukemia	16864856	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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108595600-108598200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:108597200-108597600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:108598200-108598600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:108606200-108606400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:108611600-108612000	Enhancers	Fetal Muscle Leg	muscle
6	chr7:108611800-108612600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:108611800-108612600	Enhancers	Colon Smooth Muscle	Colon
8	chr7:108612000-108613000	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:108612200-108612600	Enhancers	Brain Germinal Matrix	brain
10	chr7:108612600-108614800	Weak transcription	Brain Germinal Matrix	brain
11	chr7:108613600-108613800	Enhancers	Fetal Muscle Leg	muscle
12	chr7:108613600-108614600	Enhancers	Fetal Brain Male	brain
13	chr7:108614200-108615200	Enhancers	Fetal Brain Female	brain
14	chr7:108614800-108616800	Enhancers	Brain Germinal Matrix	brain
15	chr7:108615400-108616000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:108624200-108624800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:108624200-108625800	Enhancers	Fetal Brain Male	brain
18	chr7:108624400-108625000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:108624400-108625200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:108624400-108625200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:108624600-108625000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:108624800-108625200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:108624800-108636800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:108625000-108637200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:108625200-108628000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:108628000-108628400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:108628400-108641800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:108629400-108629800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:108629400-108629800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:108629600-108630800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:108629800-108630600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:108630600-108633000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:108636400-108637200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:108636800-108637800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:108636800-108637800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:108637000-108637600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:108637200-108637600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:108637600-108641800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:108637600-108641800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:108637800-108641600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:108637800-108642000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:108641600-108642400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr7:108641600-108642600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr7:108641800-108642400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:108641800-108642400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr7:108641800-108642400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:108642000-108642400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:108642400-108647000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:108642600-108647600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:108643200-108644000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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