Variant report

Variant	nsv607874
Chromosome Location	chr7:96543340-96550696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:96534888..96537725-chr7:96550267..96553338,3	K562	blood:
2	chr7:96549932..96553009-chr7:96553159..96555940,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541272451	chr7:96543868-96543869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7799489	chr7:96543890-96543891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559475008	chr7:96543898-96543899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375526773	chr7:96543916-96543917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533023563	chr7:96543917-96543918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550037417	chr7:96543918-96543919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551522236	chr7:96543919-96543920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141388699	chr7:96543925-96543926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529267565	chr7:96543974-96543975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368302986	chr7:96543976-96543977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549333573	chr7:96543993-96543994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7784222	chr7:96544134-96544135	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544286365	chr7:96544157-96544158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34795681	chr7:96544158-96544159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201551783	chr7:96544159-96544160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397786479	chr7:96544166-96544167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571595250	chr7:96549827-96549828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375081666	chr7:96549834-96549835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35630782	chr7:96549841-96549842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183863410	chr7:96549854-96549855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188136970	chr7:96549896-96549897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139405816	chr7:96549907-96549908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374503560	chr7:96549955-96549956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117670906	chr7:96549956-96549957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570105894	chr7:96549960-96549961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73402648	chr7:96549965-96549966	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181938269	chr7:96549966-96549967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117036496	chr7:96549979-96549980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187178789	chr7:96549980-96549981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372862865	chr7:96550007-96550008	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs150068923	chr7:96550087-96550088	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs190405426	chr7:96550118-96550119	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs181679159	chr7:96550129-96550130	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs114080373	chr7:96550175-96550176	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs186689992	chr7:96550236-96550237	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs190192213	chr7:96550245-96550246	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs563396877	chr7:96550291-96550292	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs539606455	chr7:96550318-96550319	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs17597168	chr7:96550340-96550341	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs542069253	chr7:96550417-96550418	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs562303266	chr7:96550433-96550434	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs377765397	chr7:96550444-96550445	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs13241077	chr7:96550458-96550459	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547667152	chr7:96550541-96550542	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs1207696	chr7:96550696-96550697	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
lymphocytic leukemia	21291569	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
abnormal development	18461090	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96543800-96544200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr7:96549800-96551200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:96549800-96551200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:96550000-96550200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:96550000-96551000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:96550000-96551200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:96550000-96551400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:96550000-96551400	Enhancers	NHEK	skin
9	chr7:96550000-96551600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:96550200-96550600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:96550200-96550600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:96550200-96551000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:96550200-96551200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:96550200-96551400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:96550400-96551000	Enhancers	Brain Germinal Matrix	brain
16	chr7:96550400-96551200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:96550400-96551200	Enhancers	Placenta	Placenta
18	chr7:96550600-96550800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:96550600-96551000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:96550600-96551000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:96550600-96551000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:96550600-96551000	Enhancers	Gastric	stomach
23	chr7:96550600-96551200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:96550600-96551200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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