Variant report

Variant	nsv1025302
Chromosome Location	chr7:62020156-62404706
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
2	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
3	chr7:62284727..62285228-chr9:30620902..30621883,2	MCF-7	breast:
4	chr1:121484723..121485367-chr7:62026258..62026778,2	MCF-7	breast:
5	chr17:41380367..41382313-chr7:62191292..62192792,2	MCF-7	breast:
6	chr17:41380312..41382165-chr7:62191292..62192792,2	K562	blood:
7	chr17:41398894..41400557-chr7:62191292..62192792,2	K562	blood:
8	chr17:41399589..41402142-chr7:62189772..62191292,2	K562	blood:
9	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions

Extended variants
information (count: 23455 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:23455 , 50 per page) page: 1 2 3 4 5 6 7 ... 470

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2123573	chr7:62020156-62020157	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186389095	chr7:62020159-62020160	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs112981787	chr7:62020183-62020184	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112580703	chr7:62020188-62020189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs139503786	chr7:62020223-62020224	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs373011311	chr7:62020224-62020225	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs199793778	chr7:62020245-62020246	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs78355504	chr7:62020258-62020259	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs79722732	chr7:62020261-62020262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs555415378	chr7:62020267-62020268	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs80103288	chr7:62020270-62020271	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs113541039	chr7:62020279-62020280	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs541203978	chr7:62020280-62020281	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs559679758	chr7:62020287-62020288	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs577997513	chr7:62020292-62020293	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs112720603	chr7:62020296-62020297	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs200993782	chr7:62020297-62020298	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs145877732	chr7:62020298-62020299	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs78108646	chr7:62020304-62020305	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs200552328	chr7:62020322-62020323	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs74686288	chr7:62020332-62020333	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs191216029	chr7:62020340-62020341	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563575353	chr7:62020356-62020357	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs372663005	chr7:62020361-62020362	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs549213473	chr7:62020363-62020364	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs199867992	chr7:62020365-62020366	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs561098820	chr7:62020368-62020369	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs113028013	chr7:62020385-62020386	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs528167040	chr7:62020394-62020395	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs546423880	chr7:62020396-62020397	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs201380505	chr7:62020410-62020411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs183630995	chr7:62020411-62020412	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs200967660	chr7:62020415-62020416	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs186797637	chr7:62020422-62020423	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs564004617	chr7:62020426-62020427	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs562913064	chr7:62020427-62020428	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs551613031	chr7:62020439-62020440	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs78399472	chr7:62020441-62020442	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs375567799	chr7:62020447-62020448	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs77648687	chr7:62020451-62020452	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs191244090	chr7:62020454-62020455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs537214943	chr7:62020472-62020473	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs533183748	chr7:62020481-62020482	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs568189993	chr7:62020485-62020486	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs76107010	chr7:62020486-62020487	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs80011095	chr7:62020488-62020489	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs183102467	chr7:62020498-62020499	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs535116956	chr7:62020502-62020503	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs4599699	chr7:62020510-62020511	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs80240425	chr7:62020518-62020519	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Glioblastoma	21080181	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Bipolar disorder	19214233	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Schizophrenia	23813976	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:62014400-62029800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:62014600-62025200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr7:62014600-62027600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr7:62014800-62026800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr7:62014800-62026800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr7:62015600-62021600	Weak transcription	K562	blood
7	chr7:62017200-62021600	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:62017400-62021600	Weak transcription	Aorta	Aorta
9	chr7:62019400-62021200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:62019600-62021600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:62019600-62021600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:62019800-62021600	Weak transcription	Fetal Heart	heart
13	chr7:62020000-62020200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
14	chr7:62020000-62020200	ZNF genes & repeats	HUVEC	blood vessel
15	chr7:62020000-62020400	ZNF genes & repeats	NH-A	brain
16	chr7:62020400-62021800	Weak transcription	NH-A	brain
17	chr7:62021200-62021400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:62021400-62021600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:62021400-62022000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr7:62021400-62022200	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr7:62021600-62021800	Active TSS	Thymus	Thymus
22	chr7:62021600-62022000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr7:62021600-62022000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
24	chr7:62021600-62022000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr7:62021600-62022000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:62021600-62022000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:62021600-62022000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:62021600-62022000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
29	chr7:62021600-62022000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:62021600-62022000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:62021600-62022000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:62021600-62022000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:62021600-62022000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
34	chr7:62021600-62022000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr7:62021600-62022000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:62021600-62022000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
37	chr7:62021600-62022000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
38	chr7:62021600-62022000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:62021600-62022000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
40	chr7:62021600-62022000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:62021600-62022000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
42	chr7:62021600-62022000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr7:62021600-62022000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:62021600-62022000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
45	chr7:62021600-62022000	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
46	chr7:62021600-62022000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:62021600-62022000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
48	chr7:62021600-62022000	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr7:62021600-62022000	Flanking Active TSS	Aorta	Aorta
50	chr7:62021600-62022000	ZNF genes & repeats	Liver	Liver

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