Variant report

Variant	nsv981780
Chromosome Location	chr7:108352758-108409711
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	chr7:108403556-108403774	A549	lung:	n/a	n/a
5	CEBPB	chr7:108361225-108361239	A549	lung:	n/a	n/a
6	CEBPB	chr7:108361165-108361296	HepG2	liver:	n/a	chr7:108361210-108361221
7	CEBPB	chr7:108403618-108403756	HepG2	liver:	n/a	n/a
8	CHD2	chr7:108358414-108358512	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr7:108408988-108409105	MCF-7	breast:	n/a	chr7:108409031-108409049
10	CTCF	chr7:108392300-108392450	GM12868	blood:	n/a	n/a
11	CTCF	chr7:108408980-108409130	MCF-7	breast:	n/a	chr7:108409031-108409049
12	CTCF	chr7:108408970-108409112	Medullo	brain:	n/a	chr7:108409031-108409049
13	CTCF	chr7:108392280-108392430	HEK293	kidney:	n/a	n/a
14	CTCF	chr7:108409000-108409150	HEK293	kidney:	n/a	chr7:108409031-108409049
15	CTCF	chr7:108355940-108356090	HVMF	connective:	n/a	n/a
16	CTCF	chr7:108400245-108400316	GM10266	blood:	n/a	n/a
17	CTCF	chr7:108384440-108384590	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr7:108408920-108409070	HRE	kidney:	n/a	chr7:108409031-108409049
19	CTCF	chr7:108356014-108356273	GM12878	blood:	n/a	n/a
20	CTCF	chr7:108356093-108356133	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr7:108409019-108409025	LNCaP	prostate:	n/a	n/a
22	CTCF	chr7:108408980-108409130	BE2_C	brain:	n/a	chr7:108409031-108409049
23	CTCF	chr7:108409000-108409150	BE2_C	brain:	n/a	chr7:108409031-108409049
24	CTCF	chr7:108408989-108409076	MCF-7	breast:	n/a	chr7:108409031-108409049
25	CTCF	chr7:108409037-108409054	LNCaP	prostate:	n/a	n/a
26	CTCF	chr7:108364700-108364850	HA-sp	spinal cord:	n/a	n/a
27	CTCF	chr7:108392300-108392450	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:108408980-108409130	HRPEpiC	eye:	n/a	chr7:108409031-108409049
29	CTCF	chr7:108392280-108392430	GM12873	blood:	n/a	n/a
30	CTCF	chr7:108402094-108402134	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr7:108409040-108409190	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr7:108366930-108366975	ProgFib	skin:	n/a	n/a
33	CTCF	chr7:108356095-108356163	K562	blood:	n/a	n/a
34	CTCF	chr7:108408940-108409090	WERI-Rb-1	eye:	n/a	chr7:108409031-108409049
35	CTCF	chr7:108408980-108409130	HPAF	blood vessel:	n/a	chr7:108409031-108409049
36	CTCF	chr7:108390520-108390670	GM12878	blood:	n/a	n/a
37	CTCF	chr7:108408960-108409110	HAc	cerebellar:	n/a	chr7:108409031-108409049
38	CTCF	chr7:108409029-108409100	LNCaP	prostate:	n/a	chr7:108409031-108409049
39	CTCF	chr7:108408960-108409110	MCF-7	breast:	n/a	chr7:108409031-108409049
40	CTCF	chr7:108392500-108392650	GM12873	blood:	n/a	n/a
41	CUX1	chr7:108376891-108376902	GM12878	blood:	n/a	n/a
42	EBF1	chr7:108354974-108355018	GM12878	blood:	n/a	n/a
43	FAM48A	chr7:108409055-108409162	GM12878	blood:	n/a	n/a
44	FOS	chr7:108409464-108409481	MCF10A-Er-Src	breast:	n/a	n/a
45	GATA2	chr7:108363691-108364308	SH-SY5Y	brain:	n/a	chr7:108363707-108363716 chr7:108363704-108363720 chr7:108363709-108363716 chr7:108363698-108363715 chr7:108363709-108363716 chr7:108363707-108363717 chr7:108363707-108363716 chr7:108363706-108363718 chr7:108363709-108363716
46	GATA3	chr7:108391147-108391188	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr7:108355977-108356055	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr7:108363685-108363954	SH-SY5Y	brain:	n/a	chr7:108363707-108363716 chr7:108363704-108363720 chr7:108363709-108363716 chr7:108363698-108363715 chr7:108363709-108363716 chr7:108363707-108363717 chr7:108363707-108363716 chr7:108363706-108363718 chr7:108363709-108363716
49	GATA3	chr7:108375296-108375467	SH-SY5Y	brain:	n/a	chr7:108375361-108375382
50	GATA3	chr7:108397307-108397344	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:108354711..108356531-chr7:108358919..108360858,2	K562	blood:
2	chr7:108393428..108395995-chr7:108403731..108406608,2	MCF-7	breast:
3	chr7:108354711..108356531-chr7:108358919..108360858,2	K562	blood:
4	chr7:108408625..108410210-chr7:108420775..108422982,2	K562	blood:
5	chr7:108393428..108395995-chr7:108403731..108406608,2	MCF-7	breast:
6	chr7:108355031..108357363-chr7:108358909..108360419,2	K562	blood:
7	chr7:108355031..108357363-chr7:108358909..108360419,2	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: 907 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:907 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10216082	chr7:108352758-108352759	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561386956	chr7:108352780-108352781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146844516	chr7:108352796-108352797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530187372	chr7:108352804-108352805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550108315	chr7:108352808-108352809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570189152	chr7:108352813-108352814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562248745	chr7:108352829-108352830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141491242	chr7:108352830-108352831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149231188	chr7:108352858-108352859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145895022	chr7:108352859-108352860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138061090	chr7:108352860-108352861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574198755	chr7:108352862-108352863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537110794	chr7:108352866-108352867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556918816	chr7:108352867-108352868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576966809	chr7:108352906-108352907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545808861	chr7:108352973-108352974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372341733	chr7:108352980-108352981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13309115	chr7:108352981-108352982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13308836	chr7:108352983-108352984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11771653	chr7:108353020-108353021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368945215	chr7:108353093-108353094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139946619	chr7:108353117-108353118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372074715	chr7:108353146-108353147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111431605	chr7:108353155-108353156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73422359	chr7:108353193-108353194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573142861	chr7:108353194-108353195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541455264	chr7:108353208-108353209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186266887	chr7:108353242-108353243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78207418	chr7:108353243-108353244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35275522	chr7:108353251-108353252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17156107	chr7:108353280-108353281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs563775811	chr7:108353365-108353366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532717320	chr7:108353397-108353398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190615533	chr7:108353440-108353441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180847760	chr7:108353482-108353483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375033157	chr7:108353486-108353487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537086490	chr7:108353527-108353528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547792542	chr7:108353529-108353530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75991034	chr7:108353546-108353547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186134048	chr7:108353578-108353579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556998237	chr7:108353580-108353581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191326021	chr7:108353693-108353694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182791644	chr7:108353698-108353699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539638802	chr7:108353775-108353776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75014073	chr7:108353805-108353806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573175294	chr7:108353840-108353841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199827383	chr7:108353907-108353908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542107580	chr7:108353912-108353913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555044827	chr7:108353913-108353914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185993962	chr7:108353914-108353915	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108352000-108352800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:108352200-108352800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:108352200-108356800	Weak transcription	Fetal Stomach	stomach
4	chr7:108352200-108357000	Weak transcription	Dnd41	blood
5	chr7:108352400-108354600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:108354600-108355000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:108356200-108357400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:108356200-108357400	Enhancers	Osteobl	bone
9	chr7:108356800-108357000	Enhancers	Fetal Stomach	stomach
10	chr7:108356800-108357400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:108356800-108357400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:108356800-108357400	Enhancers	NH-A	brain
13	chr7:108357000-108357400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:108357000-108357400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:108357000-108357600	Enhancers	Dnd41	blood
16	chr7:108360600-108360800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:108360600-108361600	Enhancers	Fetal Muscle Leg	muscle
18	chr7:108360800-108363200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:108361600-108364000	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:108363200-108363800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:108363200-108364400	Enhancers	Brain Germinal Matrix	brain
22	chr7:108363200-108366200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:108363600-108364200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:108363600-108365000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:108363800-108364200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:108363800-108364200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr7:108363800-108364200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:108363800-108364200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:108363800-108364400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:108363800-108364600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:108363800-108365000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:108364000-108364400	Enhancers	HSMMtube	muscle
33	chr7:108364000-108365800	Enhancers	Fetal Lung	lung
34	chr7:108364000-108365800	Enhancers	Fetal Muscle Leg	muscle
35	chr7:108364000-108366000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr7:108364400-108364800	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr7:108364400-108365000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:108364400-108365400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:108364400-108366000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:108364600-108365000	Enhancers	NH-A	brain
41	chr7:108364600-108365000	Enhancers	Osteobl	bone
42	chr7:108364600-108365400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:108364600-108366000	Enhancers	Fetal Brain Female	brain
44	chr7:108364800-108366600	Enhancers	Brain Germinal Matrix	brain
45	chr7:108372400-108373200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:108372400-108376000	Weak transcription	Fetal Lung	lung
47	chr7:108374000-108376000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:108376000-108376400	Enhancers	Fetal Lung	lung
49	chr7:108388400-108389600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:108389400-108390800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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