Variant report

Variant	nsv1029168
Chromosome Location	chr7:110771561-110818458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:110787029..110788702-chr7:110791625..110793971,2	K562	blood:
2	chr7:110780555..110783082-chr7:110783527..110786521,2	K562	blood:
3	chr7:110807402..110810065-chr7:110811637..110813724,2	K562	blood:
4	chr7:110766284..110768061-chr7:110775175..110776979,2	K562	blood:
5	chr7:110794617..110796472-chr7:110809802..110811971,2	K562	blood:
6	chr7:110792860..110795164-chr7:110801067..110803231,2	MCF-7	breast:
7	chr7:110791972..110793619-chr7:110796651..110798355,2	K562	blood:
8	chr7:110799581..110802084-chr7:110811577..110813562,2	K562	blood:
9	chr7:110792860..110795164-chr7:110801067..110803231,2	MCF-7	breast:
10	chr7:110799581..110802084-chr7:110811577..110813562,2	K562	blood:
11	chr7:110791972..110793619-chr7:110796651..110798355,2	K562	blood:
12	chr7:110784339..110787250-chr7:110788420..110790472,2	K562	blood:
13	chr7:110812015..110813631-chr7:110817074..110819107,2	K562	blood:
14	chr7:110772454..110774520-chr7:110775705..110777791,2	K562	blood:
15	chr22:44608071..44610413-chr7:110807681..110810371,2	MCF-7	breast:
16	chr7:110812015..110813631-chr7:110817074..110819107,2	K562	blood:
17	chr7:110790879..110793527-chr7:110798511..110801255,3	K562	blood:
18	chr7:110807402..110810065-chr7:110811637..110813724,2	K562	blood:
19	chr7:110787029..110788702-chr7:110791625..110793971,2	K562	blood:
20	chr7:110790879..110793527-chr7:110798511..110801255,3	K562	blood:
21	chr7:110780555..110783082-chr7:110783527..110786521,2	K562	blood:
22	chr7:110784339..110787250-chr7:110788420..110790472,2	K562	blood:
23	chr7:110794617..110796472-chr7:110809802..110811971,2	K562	blood:
24	chr7:110772454..110774520-chr7:110775705..110777791,2	K562	blood:

No data

Extended variants
information (count: 1392 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1392 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10243966	chr7:110771561-110771562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572716559	chr7:110771615-110771616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151296232	chr7:110771626-110771627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542994180	chr7:110771659-110771660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs214860	chr7:110771683-110771684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531867100	chr7:110771716-110771717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545640023	chr7:110771726-110771727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528537440	chr7:110771828-110771829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577906225	chr7:110771837-110771838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140565129	chr7:110771845-110771846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527821755	chr7:110771880-110771881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547891236	chr7:110771889-110771890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150002414	chr7:110771951-110771952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564399316	chr7:110771973-110771974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367846808	chr7:110771975-110771976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28520723	chr7:110772006-110772007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549866613	chr7:110772052-110772053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372383122	chr7:110772062-110772063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538514369	chr7:110772154-110772155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551966042	chr7:110772166-110772167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565521139	chr7:110772191-110772192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374467530	chr7:110772202-110772203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554237018	chr7:110772211-110772212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142321815	chr7:110772215-110772216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537055966	chr7:110772260-110772261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556655382	chr7:110772274-110772275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185613410	chr7:110772297-110772298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116095090	chr7:110772429-110772430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371690703	chr7:110772458-110772459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190521541	chr7:110772469-110772470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114661170	chr7:110772514-110772515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146367698	chr7:110772547-110772548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561440741	chr7:110772549-110772550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530089813	chr7:110772565-110772566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550170634	chr7:110772658-110772659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563499647	chr7:110772659-110772660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532305758	chr7:110772662-110772663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552029389	chr7:110772687-110772688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565580403	chr7:110772702-110772703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544362709	chr7:110772797-110772798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180857605	chr7:110772816-110772817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568169658	chr7:110772826-110772827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536715613	chr7:110772831-110772832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561416171	chr7:110772853-110772854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374964579	chr7:110772886-110772887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562960521	chr7:110772905-110772906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556954468	chr7:110772926-110772927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576887505	chr7:110772952-110772953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10278254	chr7:110772954-110772955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533626013	chr7:110773014-110773015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110753000-110778000	Weak transcription	Ovary	ovary
2	chr7:110764800-110773200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:110764800-110777800	Weak transcription	Primary T cells from cord blood	blood
4	chr7:110770600-110773000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:110771400-110777800	Weak transcription	Aorta	Aorta
6	chr7:110772400-110773200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:110772400-110773200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:110772400-110773600	Enhancers	Hela-S3	cervix
9	chr7:110772800-110773400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:110772800-110773400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:110772800-110773400	Enhancers	HUVEC	blood vessel
12	chr7:110773000-110773400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:110773000-110773400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:110773000-110773400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:110773000-110773400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:110773000-110773800	Enhancers	A549	lung
17	chr7:110773200-110773600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:110773200-110773600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:110773200-110776600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:110773200-110777400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:110773400-110777600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:110773400-110777600	Weak transcription	HUVEC	blood vessel
23	chr7:110773400-110777800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:110773400-110778000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:110773400-110778000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:110773600-110776800	Weak transcription	Hela-S3	cervix
27	chr7:110773600-110778000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:110773800-110778000	Weak transcription	A549	lung
29	chr7:110776600-110779800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:110776800-110777800	Enhancers	Hela-S3	cervix
31	chr7:110776800-110780000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr7:110777000-110777800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:110777000-110778000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:110777000-110778400	Enhancers	Small Intestine	intestine
35	chr7:110777200-110779000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:110777400-110777600	Active TSS	GM12878-XiMat	blood
37	chr7:110777400-110778200	Enhancers	Dnd41	blood
38	chr7:110777400-110779200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:110777400-110780600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:110777600-110778600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:110777600-110778600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:110777600-110778800	Flanking Active TSS	GM12878-XiMat	blood
43	chr7:110777600-110779000	Enhancers	Primary hematopoietic stem cells	blood
44	chr7:110777600-110779400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:110777600-110779400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:110777600-110779400	Enhancers	HUVEC	blood vessel
47	chr7:110777600-110779400	Enhancers	NHDF-Ad	bronchial
48	chr7:110777600-110780200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr7:110777600-110780600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:110777800-110778000	Enhancers	Primary T cells from cord blood	blood

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