Variant report

Variant	nsv888617
Chromosome Location	chr7:83352427-83479375
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:83456371..83458031-chr7:83460982..83463180,2	K562	blood:
2	chr7:83460398..83462244-chr7:83469602..83471375,2	MCF-7	breast:
3	chr7:83456371..83458031-chr7:83460982..83463180,2	K562	blood:
4	chr7:83420261..83421936-chr7:83439188..83441128,2	K562	blood:
5	chr7:83456371..83459960-chr7:83460800..83464283,4	K562	blood:
6	chr7:83423084..83425253-chr7:83427372..83429085,2	K562	blood:
7	chr7:83460398..83462244-chr7:83469602..83471375,2	MCF-7	breast:
8	chr7:83420261..83421936-chr7:83439188..83441128,2	K562	blood:
9	chr5:42182671..42183209-chr7:83415074..83415902,2	MCF-7	breast:
10	chr7:83423084..83425253-chr7:83427372..83429085,2	K562	blood:
11	chr7:83456371..83459960-chr7:83460800..83464283,4	K562	blood:

No data

Extended variants
information (count: 1970 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1970 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574942959	chr7:83358004-83358005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192586759	chr7:83358049-83358050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145872711	chr7:83358134-83358135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148921700	chr7:83358150-83358151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559199408	chr7:83358174-83358175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370268341	chr7:83358295-83358296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546071395	chr7:83358315-83358316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374903258	chr7:83358319-83358320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544467250	chr7:83358338-83358339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112547938	chr7:83358414-83358415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559333658	chr7:83358425-83358426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73386328	chr7:83358439-83358440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547940828	chr7:83358442-83358443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184800733	chr7:83358453-83358454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530493137	chr7:83358462-83358463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558429323	chr7:83358485-83358486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545470172	chr7:83358493-83358494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566737267	chr7:83358494-83358495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115364230	chr7:83358527-83358528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570409993	chr7:83358595-83358596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539002306	chr7:83358688-83358689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559198804	chr7:83358700-83358701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566192672	chr7:83358770-83358771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79055430	chr7:83358810-83358811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145351865	chr7:83358829-83358830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575017840	chr7:83358834-83358835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17289207	chr7:83358836-83358837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557118708	chr7:83358857-83358858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188596220	chr7:83358905-83358906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545833360	chr7:83358908-83358909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559607490	chr7:83358944-83358945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528340469	chr7:83358952-83358953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147682729	chr7:83358953-83358954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386715310	chr7:83358968-83358969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561524353	chr7:83358969-83358970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530551961	chr7:83358989-83358990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34109760	chr7:83358994-83358995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550251714	chr7:83359031-83359032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570397150	chr7:83359057-83359058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576354926	chr7:83359179-83359180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532942460	chr7:83359189-83359190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546235787	chr7:83359200-83359201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566375632	chr7:83359219-83359220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535317184	chr7:83359220-83359221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35636380	chr7:83359221-83359222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1921598	chr7:83359224-83359225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568662739	chr7:83359258-83359259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369009263	chr7:83359371-83359372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560372948	chr7:83359383-83359384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557431928	chr7:83359384-83359385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	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
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83358000-83358400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:83358400-83359800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:83359800-83360000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:83359800-83360200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:83360000-83361000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr7:83360200-83360800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:83360200-83361400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:83360200-83361800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:83360400-83360600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:83360400-83360600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:83360400-83360800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:83360400-83360800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr7:83361400-83362400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:83361600-83361800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr7:83361600-83362000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:83361600-83362200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:83361600-83362200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:83361600-83362200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:83361800-83362200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr7:83361800-83362200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:83361800-83363800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:83362200-83367400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:83366200-83367600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:83366400-83368200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:83366600-83367600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:83366600-83367600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:83366600-83368000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:83367200-83367800	Enhancers	Brain Anterior Caudate	brain
29	chr7:83367400-83367800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr7:83367400-83367800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr7:83367400-83368000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:83367400-83368200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:83367400-83368400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:83367600-83368000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:83367600-83368800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:83368200-83368400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:83368400-83369200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:83369000-83369200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:83369200-83369400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:83369200-83369400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:83378600-83379200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:83378800-83379200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr7:83378800-83379200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:83378800-83379200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
45	chr7:83378800-83379200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:83380600-83381400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:83380800-83381400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:83403400-83405800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:83405600-83406400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr7:83405600-83406400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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