Variant report

Variant	nsv888955
Chromosome Location	chr7:109639751-109720628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:222)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:222 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:109643522-109643630	K562	blood:	n/a	n/a
2	ATF1	chr7:109645029-109645204	K562	blood:	n/a	n/a
3	ATF1	chr7:109708162-109708290	K562	blood:	n/a	n/a
4	BACH1	chr7:109702784-109702974	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr7:109647396-109647762	GM12878	blood:	n/a	n/a
6	BATF	chr7:109701511-109701704	GM12878	blood:	n/a	n/a
7	BCL3	chr7:109647406-109647703	GM12878	blood:	n/a	n/a
8	CCNT2	chr7:109695119-109695224	K562	blood:	n/a	n/a
9	CEBPB	chr7:109716560-109716885	A549	lung:	n/a	n/a
10	CEBPB	chr7:109716525-109716874	IMR90	lung:	n/a	n/a
11	CEBPB	chr7:109716639-109716839	HepG2	liver:	n/a	n/a
12	CEBPB	chr7:109706789-109707057	HepG2	liver:	n/a	chr7:109706889-109706900 chr7:109706889-109706902 chr7:109706889-109706902 chr7:109706891-109706902
13	CEBPB	chr7:109716550-109716857	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr7:109675885-109675978	MCF-7	breast:	n/a	n/a
15	CTCF	chr7:109675899-109675966	MCF-7	breast:	n/a	n/a
16	CTCF	chr7:109644032-109644133	MCF-7	breast:	n/a	n/a
17	CTCF	chr7:109643980-109644130	HPF	lung:	n/a	n/a
18	CTCF	chr7:109643982-109644132	LNCaP	prostate:	n/a	n/a
19	CTCF	chr7:109644060-109644210	Caco-2	colon:	n/a	n/a
20	CTCF	chr7:109643940-109644090	Caco-2	colon:	n/a	n/a
21	CTCF	chr7:109644000-109644150	MCF-7	breast:	n/a	n/a
22	CTCF	chr7:109696720-109696870	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr7:109702264-109702287	GM10248	blood:	n/a	n/a
24	CTCF	chr7:109643980-109644130	SAEC	small airway:	n/a	n/a
25	CTCF	chr7:109644011-109644161	LNCaP	prostate:	n/a	n/a
26	CTCF	chr7:109644200-109644350	NHEK	skin:	n/a	n/a
27	CTCF	chr7:109641840-109641990	BE2_C	brain:	n/a	n/a
28	CTCF	chr7:109643920-109644070	HRE	kidney:	n/a	n/a
29	CTCF	chr7:109644020-109644170	MCF-7	breast:	n/a	n/a
30	CTCF	chr7:109644000-109644150	NHEK	skin:	n/a	n/a
31	CTCF	chr7:109706411-109706471	GM10248	blood:	n/a	n/a
32	CTCF	chr7:109643824-109644298	MCF-7	breast:	n/a	n/a
33	CTCF	chr7:109644000-109644150	HMEC	breast:	n/a	n/a
34	CTCF	chr7:109643980-109644130	NHEK	skin:	n/a	n/a
35	CTCF	chr7:109644013-109644133	HepG2	liver:	n/a	n/a
36	CTCF	chr7:109643978-109644161	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr7:109643940-109644090	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr7:109643960-109644110	BE2_C	brain:	n/a	n/a
39	CTCF	chr7:109643980-109644130	GM06990	blood:	n/a	n/a
40	CTCF	chr7:109644000-109644150	BE2_C	brain:	n/a	n/a
41	CTCF	chr7:109644022-109644114	GM12878	blood:	n/a	n/a
42	CTCF	chr7:109644000-109644167	MCF-7	breast:	n/a	n/a
43	CTCF	chr7:109643980-109644130	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr7:109675907-109675980	MCF-7	breast:	n/a	n/a
45	CTCF	chr7:109644060-109644210	HMEC	breast:	n/a	n/a
46	CTCF	chr7:109644013-109644117	Medullo	brain:	n/a	n/a
47	CTCF	chr7:109661620-109661770	HRE	kidney:	n/a	n/a
48	CTCF	chr7:109644001-109644116	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr7:109644020-109644090	GM13977	blood:	n/a	n/a
50	CTCF	chr7:109643841-109644251	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:109643549..109644198-chr7:110082097..110083094,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRN3-4	chr7:109704661-109704892	NONHSAT122758
2	lnc-LRRN3-4	chr7:109659312-109659557	NONHSAT122758
3	lnc-LRRN3-4	chr7:109650262-109650864	NONHSAT122758
4	lnc-LRRN3-4	chr7:109703486-109703925	NONHSAT122758

No data

Variant related genes	Relation type
RPL3P8	TF binding region

Extended variants
information (count: 1142 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1142 , 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	rs2523239	chr7:109639751-109639752	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187856205	chr7:109639780-109639781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs192962143	chr7:109639784-109639785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs559498456	chr7:109639785-109639786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs573631742	chr7:109639790-109639791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs143287412	chr7:109639794-109639795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs548462062	chr7:109639809-109639810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568781181	chr7:109639859-109639860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537345621	chr7:109639874-109639875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550909510	chr7:109639893-109639894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377276104	chr7:109639899-109639900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570770096	chr7:109639902-109639903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539909471	chr7:109639924-109639925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553534697	chr7:109639944-109639945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540715997	chr7:109639948-109639949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570358408	chr7:109639966-109639967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73433567	chr7:109639991-109639992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537780723	chr7:109640017-109640018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2711344	chr7:109640021-109640022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs575450657	chr7:109640024-109640025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201813030	chr7:109640031-109640032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138053790	chr7:109640140-109640141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552716196	chr7:109640179-109640180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577246191	chr7:109640210-109640211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539924539	chr7:109640304-109640305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111631202	chr7:109640305-109640306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375756106	chr7:109640312-109640313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184986449	chr7:109640331-109640332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528657258	chr7:109640332-109640333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377680802	chr7:109640457-109640458	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs76138180	chr7:109640505-109640506	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs562150919	chr7:109640524-109640525	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs531198393	chr7:109640547-109640548	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs551010239	chr7:109640562-109640563	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs564311759	chr7:109640624-109640625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533403080	chr7:109640627-109640628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115758208	chr7:109640646-109640647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2711343	chr7:109640656-109640657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2711342	chr7:109640660-109640661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs117188708	chr7:109640716-109640717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568973040	chr7:109640720-109640721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538116071	chr7:109640729-109640730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557801475	chr7:109640745-109640746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577208632	chr7:109640782-109640783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539887027	chr7:109640860-109640861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17157360	chr7:109640896-109640897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs573358547	chr7:109640926-109640927	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368550967	chr7:109640932-109640933	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs542372046	chr7:109640987-109640988	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs142542247	chr7:109640995-109640996	Weak transcription	TF binding region	1 gene(s)	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	chr7:109639200-109639800	ZNF genes & repeats	Dnd41	blood
2	chr7:109639800-109641600	Weak transcription	Dnd41	blood
3	chr7:109641600-109643000	Enhancers	Dnd41	blood
4	chr7:109643000-109647200	Weak transcription	Dnd41	blood
5	chr7:109646800-109647600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:109647000-109647800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:109647000-109647800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:109647000-109647800	Enhancers	NHEK	skin
9	chr7:109647000-109648000	Enhancers	HMEC	breast
10	chr7:109647200-109648400	Enhancers	Dnd41	blood
11	chr7:109647600-109647800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:109647800-109650600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:109650200-109650400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:109650600-109650800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:109650600-109654800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:109653000-109653400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:109654800-109655400	Enhancers	Fetal Intestine Small	intestine
18	chr7:109654800-109655600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:109654800-109655600	Enhancers	HepG2	liver
20	chr7:109657800-109660000	Weak transcription	Dnd41	blood
21	chr7:109667200-109667800	Enhancers	Fetal Lung	lung
22	chr7:109669400-109670200	Enhancers	Dnd41	blood
23	chr7:109683400-109683600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:109683400-109683800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:109683400-109684200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:109683600-109684000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:109684800-109685200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr7:109689000-109689600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:109689200-109690200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:109689200-109691600	Enhancers	HMEC	breast
31	chr7:109689200-109691600	Enhancers	NHEK	skin
32	chr7:109689400-109690600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:109689400-109690800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:109690200-109690600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:109690600-109691200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:109690800-109691400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:109691200-109691800	Enhancers	Colon Smooth Muscle	Colon
38	chr7:109691400-109691600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:109691400-109691600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:109705000-109705400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:109711000-109711200	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr7:109711200-109711600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:109711400-109711800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:109711400-109711800	Enhancers	Fetal Brain Male	brain
45	chr7:109711600-109713800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:109711800-109712200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:109712200-109712800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:109713600-109714000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:109713800-109714200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:109716800-109717200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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