Variant report

Variant	nsv608151
Chromosome Location	chr7:110391589-110439111
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:110396476..110400305-chr7:110401706..110405153,4	K562	blood:
2	chr7:110175478..110177187-chr7:110400882..110403616,2	MCF-7	breast:
3	chr7:110397624..110400305-chr7:110402676..110404974,2	K562	blood:
4	chr7:110357101..110359141-chr7:110411715..110414303,2	K562	blood:
5	chr7:110411721..110414401-chr7:110414729..110417359,2	K562	blood:
6	chr7:110416902..110419716-chr7:110421177..110423362,2	K562	blood:
7	chr7:110408784..110410913-chr7:110425849..110428587,2	K562	blood:
8	chr7:110411721..110414401-chr7:110414729..110417359,2	K562	blood:
9	chr7:110409241..110411019-chr7:110413614..110415821,2	K562	blood:
10	chr7:110390258..110392332-chr7:110412106..110414900,2	K562	blood:
11	chr7:110416227..110419716-chr7:110421177..110423362,3	K562	blood:
12	chr7:110390258..110392332-chr7:110412106..110414900,2	K562	blood:
13	chr7:110317481..110318045-chr7:110398859..110399665,2	MCF-7	breast:
14	chr7:110422745..110424624-chr7:110429352..110432249,2	K562	blood:
15	chr7:110396560..110398995-chr7:110405555..110407851,2	K562	blood:
16	chr7:110399361..110401273-chr7:110412685..110415518,2	K562	blood:
17	chr7:110416227..110419716-chr7:110421177..110423362,3	K562	blood:
18	chr7:110437909..110440474-chr7:110452904..110454799,2	MCF-7	breast:
19	chr7:110416902..110419716-chr7:110421177..110423362,2	K562	blood:
20	chr7:110317303..110318127-chr7:110400606..110401594,2	MCF-7	breast:
21	chr7:110408784..110410913-chr7:110425849..110428587,2	K562	blood:
22	chr7:110399361..110401273-chr7:110412685..110415518,2	K562	blood:
23	chr7:110396560..110398995-chr7:110405555..110407851,2	K562	blood:
24	chr7:110396476..110400305-chr7:110401706..110405153,4	K562	blood:
25	chr7:110397624..110400305-chr7:110402676..110404974,2	K562	blood:
26	chr7:110422745..110424624-chr7:110429352..110432249,2	K562	blood:
27	chr7:110409241..110411019-chr7:110413614..110415821,2	K562	blood:

No data

Extended variants
information (count: 1345 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1345 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4376443	chr7:110391589-110391590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182595711	chr7:110391597-110391598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140250924	chr7:110391661-110391662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10275003	chr7:110391689-110391690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563952651	chr7:110391693-110391694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532597422	chr7:110391704-110391705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28592248	chr7:110391777-110391778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566201947	chr7:110391830-110391831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs868824	chr7:110391921-110391922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs548638376	chr7:110392001-110392002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534335284	chr7:110392002-110392003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145227688	chr7:110392005-110392006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556978336	chr7:110392044-110392045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576929130	chr7:110392059-110392060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186874197	chr7:110392200-110392201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191905479	chr7:110392204-110392205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572630217	chr7:110392233-110392234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376899856	chr7:110392238-110392239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541408472	chr7:110392314-110392315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561384230	chr7:110392324-110392325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571117586	chr7:110392423-110392424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575026845	chr7:110392476-110392477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544043923	chr7:110392512-110392513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538104927	chr7:110392536-110392537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs137963043	chr7:110392560-110392561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532713555	chr7:110392566-110392567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183234144	chr7:110392599-110392600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559872872	chr7:110392609-110392610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10263465	chr7:110392657-110392658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548601191	chr7:110392675-110392676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188643230	chr7:110392678-110392679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1881168	chr7:110392791-110392792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550329064	chr7:110392815-110392816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77403853	chr7:110392833-110392834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193140509	chr7:110392860-110392861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570676939	chr7:110392894-110392895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6466358	chr7:110392911-110392912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs535522958	chr7:110392917-110392918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553771844	chr7:110393042-110393043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377029206	chr7:110393053-110393054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572061917	chr7:110393090-110393091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539632782	chr7:110393096-110393097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35236133	chr7:110393122-110393123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546587695	chr7:110393132-110393133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535217808	chr7:110393148-110393149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146383077	chr7:110393160-110393161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555172170	chr7:110393167-110393168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185622945	chr7:110393252-110393253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543878598	chr7:110393373-110393374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77182284	chr7:110393374-110393375	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
Pancreatic cancer	17952125	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

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110388800-110402200	Weak transcription	Psoas Muscle	Psoas
2	chr7:110390600-110391600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:110391400-110399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:110397200-110397800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:110397200-110398000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:110397600-110398000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:110397800-110399200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:110398000-110399000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:110398000-110401000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:110398600-110399600	Enhancers	K562	blood
11	chr7:110399000-110400800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:110399000-110400800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:110399200-110401800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:110400000-110400400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:110400200-110400600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:110400800-110401200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:110400800-110402400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:110401000-110401200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:110401800-110402600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:110402000-110403400	Enhancers	Fetal Heart	heart
21	chr7:110402400-110402800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:110402400-110402800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:110402400-110402800	Enhancers	Fetal Stomach	stomach
24	chr7:110402400-110403200	Enhancers	Ovary	ovary
25	chr7:110402400-110403800	Enhancers	HUVEC	blood vessel
26	chr7:110402600-110402800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:110402600-110403400	Enhancers	Fetal Lung	lung
28	chr7:110402600-110403600	Enhancers	Small Intestine	intestine
29	chr7:110402800-110403200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:110402800-110403600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:110403200-110403400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:110403200-110403400	Enhancers	Fetal Kidney	kidney
33	chr7:110403400-110406400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:110403400-110406800	Weak transcription	Fetal Lung	lung
35	chr7:110403600-110403800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:110403600-110406000	Weak transcription	Fetal Kidney	kidney
37	chr7:110403800-110406800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:110403800-110406800	Weak transcription	HUVEC	blood vessel
39	chr7:110406000-110406200	Enhancers	Fetal Kidney	kidney
40	chr7:110406200-110407200	Weak transcription	Fetal Kidney	kidney
41	chr7:110406400-110407200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:110406400-110408000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:110406600-110407800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:110406800-110407200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr7:110406800-110407200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:110406800-110407200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:110406800-110407200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr7:110406800-110407200	Enhancers	Brain Anterior Caudate	brain
49	chr7:110406800-110407200	Enhancers	HUVEC	blood vessel
50	chr7:110406800-110407400	Enhancers	HUES48 Cell Line	embryonic stem cell

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