Variant report

Variant	nsv888944
Chromosome Location	chr7:108348785-108433790
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	BACH1	chr7:108375886-108375898	K562	blood:	n/a	n/a
2	BACH1	chr7:108364448-108364695	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr7:108363078-108363302	GM12878	blood:	n/a	chr7:108363228-108363238 chr7:108363227-108363238
4	CEBPB	chr7:108413677-108413902	IMR90	lung:	n/a	chr7:108413792-108413803 chr7:108413791-108413804 chr7:108413747-108413760
5	CEBPB	chr7:108361165-108361296	HepG2	liver:	n/a	chr7:108361210-108361221
6	CEBPB	chr7:108413804-108413806	K562	blood:	n/a	n/a
7	CEBPB	chr7:108413660-108413940	HepG2	liver:	n/a	chr7:108413792-108413803 chr7:108413791-108413804 chr7:108413747-108413760
8	CEBPB	chr7:108420684-108421104	HepG2	liver:	n/a	chr7:108420973-108420984 chr7:108421001-108421014 chr7:108421001-108421012 chr7:108421001-108421014 chr7:108421002-108421013
9	CEBPB	chr7:108403556-108403774	A549	lung:	n/a	n/a
10	CEBPB	chr7:108422060-108422102	HepG2	liver:	n/a	n/a
11	CEBPB	chr7:108361225-108361239	A549	lung:	n/a	n/a
12	CEBPB	chr7:108403618-108403756	HepG2	liver:	n/a	n/a
13	CHD2	chr7:108358414-108358512	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr7:108392280-108392430	HEK293	kidney:	n/a	n/a
15	CTCF	chr7:108400245-108400316	GM10266	blood:	n/a	n/a
16	CTCF	chr7:108408940-108409090	WERI-Rb-1	eye:	n/a	chr7:108409031-108409049
17	CTCF	chr7:108409000-108409150	BE2_C	brain:	n/a	chr7:108409031-108409049
18	CTCF	chr7:108408980-108409130	HRPEpiC	eye:	n/a	chr7:108409031-108409049
19	CTCF	chr7:108409040-108409190	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr7:108409019-108409025	LNCaP	prostate:	n/a	n/a
21	CTCF	chr7:108366930-108366975	ProgFib	skin:	n/a	n/a
22	CTCF	chr7:108356095-108356163	K562	blood:	n/a	n/a
23	CTCF	chr7:108416600-108416686	GM13976	blood:	n/a	n/a
24	CTCF	chr7:108392280-108392430	GM12873	blood:	n/a	n/a
25	CTCF	chr7:108408980-108409130	MCF-7	breast:	n/a	chr7:108409031-108409049
26	CTCF	chr7:108392300-108392450	MCF-7	breast:	n/a	n/a
27	CTCF	chr7:108408989-108409076	MCF-7	breast:	n/a	chr7:108409031-108409049
28	CTCF	chr7:108355940-108356090	HVMF	connective:	n/a	n/a
29	CTCF	chr7:108364700-108364850	HA-sp	spinal cord:	n/a	n/a
30	CTCF	chr7:108390520-108390670	GM12878	blood:	n/a	n/a
31	CTCF	chr7:108409029-108409100	LNCaP	prostate:	n/a	chr7:108409031-108409049
32	CTCF	chr7:108408960-108409110	HAc	cerebellar:	n/a	chr7:108409031-108409049
33	CTCF	chr7:108409037-108409054	LNCaP	prostate:	n/a	n/a
34	CTCF	chr7:108408920-108409070	HRE	kidney:	n/a	chr7:108409031-108409049
35	CTCF	chr7:108408960-108409110	MCF-7	breast:	n/a	chr7:108409031-108409049
36	CTCF	chr7:108350072-108350122	Medullo	brain:	n/a	n/a
37	CTCF	chr7:108392300-108392450	GM12868	blood:	n/a	n/a
38	CTCF	chr7:108384440-108384590	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr7:108356093-108356133	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr7:108408970-108409112	Medullo	brain:	n/a	chr7:108409031-108409049
41	CTCF	chr7:108408988-108409105	MCF-7	breast:	n/a	chr7:108409031-108409049
42	CTCF	chr7:108408980-108409130	HPAF	blood vessel:	n/a	chr7:108409031-108409049
43	CTCF	chr7:108408980-108409130	BE2_C	brain:	n/a	chr7:108409031-108409049
44	CTCF	chr7:108392500-108392650	GM12873	blood:	n/a	n/a
45	CTCF	chr7:108356014-108356273	GM12878	blood:	n/a	n/a
46	CTCF	chr7:108402094-108402134	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr7:108409000-108409150	HEK293	kidney:	n/a	chr7:108409031-108409049
48	CUX1	chr7:108376891-108376902	GM12878	blood:	n/a	n/a
49	EBF1	chr7:108354974-108355018	GM12878	blood:	n/a	n/a
50	EP300	chr7:108417865-108419273	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:108354711..108356531-chr7:108358919..108360858,2	K562	blood:
2	chr7:108411342..108413073-chr7:108413669..108415977,2	MCF-7	breast:
3	chr7:108415144..108417023-chr7:108467790..108470745,2	K562	blood:
4	chr7:108408625..108410210-chr7:108420775..108422982,2	K562	blood:
5	chr7:108419151..108420963-chr7:108489099..108491192,2	K562	blood:
6	chr7:108393428..108395995-chr7:108403731..108406608,2	MCF-7	breast:
7	chr7:108408625..108410210-chr7:108420775..108422982,2	K562	blood:
8	chr7:108355031..108357363-chr7:108358909..108360419,2	K562	blood:
9	chr7:108355031..108357363-chr7:108358909..108360419,2	K562	blood:
10	chr7:108411342..108413073-chr7:108413669..108415977,2	MCF-7	breast:
11	chr7:108393428..108395995-chr7:108403731..108406608,2	MCF-7	breast:
12	chr7:108354711..108356531-chr7:108358919..108360858,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THAP5-3	chr7:108361052-108362045	NONHSAT122746

Variant related genes	Relation type
ENSG00000270425	TF binding region

Extended variants
information (count: 1019 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1019 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181390422	chr7:108351815-108351816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543489086	chr7:108351838-108351839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184281162	chr7:108351870-108351871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2028039	chr7:108351888-108351889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73714705	chr7:108351891-108351892	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs57973513	chr7:108351904-108351905	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543340102	chr7:108351963-108351964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189000695	chr7:108351965-108351966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539757032	chr7:108351970-108351971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558011605	chr7:108351995-108351996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532408386	chr7:108352053-108352054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551488648	chr7:108352069-108352070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571578005	chr7:108352077-108352078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527829655	chr7:108352096-108352097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547911365	chr7:108352104-108352105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567889960	chr7:108352166-108352167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536828932	chr7:108352203-108352204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60645835	chr7:108352276-108352277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556680779	chr7:108352319-108352320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570273185	chr7:108352355-108352356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539270770	chr7:108352365-108352366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558275637	chr7:108352400-108352401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571696255	chr7:108352481-108352482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540772861	chr7:108352509-108352510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12705490	chr7:108352520-108352521	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs559123748	chr7:108352543-108352544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574326150	chr7:108352552-108352553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543274349	chr7:108352566-108352567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71568543	chr7:108352589-108352590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563451528	chr7:108352619-108352620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6951726	chr7:108352624-108352625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111922787	chr7:108352626-108352627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113903397	chr7:108352675-108352676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546071310	chr7:108352691-108352692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140082827	chr7:108352716-108352717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527666405	chr7:108352744-108352745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10216082	chr7:108352758-108352759	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs561386956	chr7:108352780-108352781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146844516	chr7:108352796-108352797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530187372	chr7:108352804-108352805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550108315	chr7:108352808-108352809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570189152	chr7:108352813-108352814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562248745	chr7:108352829-108352830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141491242	chr7:108352830-108352831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149231188	chr7:108352858-108352859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145895022	chr7:108352859-108352860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138061090	chr7:108352860-108352861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574198755	chr7:108352862-108352863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537110794	chr7:108352866-108352867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556918816	chr7:108352867-108352868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Autism	20841430	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108351800-108352200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr7:108351800-108352200	Enhancers	Fetal Stomach	stomach
3	chr7:108351800-108352200	Enhancers	Dnd41	blood
4	chr7:108351800-108352400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:108352000-108352800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:108352200-108352800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:108352200-108356800	Weak transcription	Fetal Stomach	stomach
8	chr7:108352200-108357000	Weak transcription	Dnd41	blood
9	chr7:108352400-108354600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:108354600-108355000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:108356200-108357400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:108356200-108357400	Enhancers	Osteobl	bone
13	chr7:108356800-108357000	Enhancers	Fetal Stomach	stomach
14	chr7:108356800-108357400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:108356800-108357400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:108356800-108357400	Enhancers	NH-A	brain
17	chr7:108357000-108357400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:108357000-108357400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:108357000-108357600	Enhancers	Dnd41	blood
20	chr7:108360600-108360800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:108360600-108361600	Enhancers	Fetal Muscle Leg	muscle
22	chr7:108360800-108363200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:108361600-108364000	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:108363200-108363800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:108363200-108364400	Enhancers	Brain Germinal Matrix	brain
26	chr7:108363200-108366200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:108363600-108364200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:108363600-108365000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:108363800-108364200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:108363800-108364200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr7:108363800-108364200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:108363800-108364200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:108363800-108364400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:108363800-108364600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:108363800-108365000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:108364000-108364400	Enhancers	HSMMtube	muscle
37	chr7:108364000-108365800	Enhancers	Fetal Lung	lung
38	chr7:108364000-108365800	Enhancers	Fetal Muscle Leg	muscle
39	chr7:108364000-108366000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr7:108364400-108364800	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr7:108364400-108365000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:108364400-108365400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:108364400-108366000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:108364600-108365000	Enhancers	NH-A	brain
45	chr7:108364600-108365000	Enhancers	Osteobl	bone
46	chr7:108364600-108365400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:108364600-108366000	Enhancers	Fetal Brain Female	brain
48	chr7:108364800-108366600	Enhancers	Brain Germinal Matrix	brain
49	chr7:108372400-108373200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:108372400-108376000	Weak transcription	Fetal Lung	lung

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