Variant report

Variant	nsv607235
Chromosome Location	chr7:61984769-62402795
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	chr17:41380367..41382313-chr7:62191292..62192792,2	MCF-7	breast:
2	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
3	chr17:41399589..41402142-chr7:62189772..62191292,2	K562	blood:
4	chr17:41380312..41382165-chr7:62191292..62192792,2	K562	blood:
5	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
6	chr1:121484723..121485367-chr7:62026258..62026778,2	MCF-7	breast:
7	chr7:62284727..62285228-chr9:30620902..30621883,2	MCF-7	breast:
8	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
9	chr17:41398894..41400557-chr7:62191292..62192792,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions

Extended variants
information (count: 28279 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:28279 , 50 per page) page: 1 2 3 4 5 6 7 ... 566

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10231995	chr7:61984769-61984770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545838068	chr7:61984770-61984771	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201177107	chr7:61984771-61984772	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577475457	chr7:61984775-61984776	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199585153	chr7:61984779-61984780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138804904	chr7:61984784-61984785	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202086596	chr7:61984788-61984789	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199676659	chr7:61984789-61984790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201711866	chr7:61984798-61984799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562934151	chr7:61984800-61984801	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs112629766	chr7:61984805-61984806	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113769554	chr7:61984813-61984814	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199874660	chr7:61984817-61984818	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530255141	chr7:61984819-61984820	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199904494	chr7:61984825-61984826	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541904398	chr7:61984828-61984829	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371547903	chr7:61984836-61984837	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560228957	chr7:61984844-61984845	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372156596	chr7:61984845-61984846	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527650237	chr7:61984853-61984854	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76892254	chr7:61984855-61984856	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187256889	chr7:61984858-61984859	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10232118	chr7:61984861-61984862	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570866672	chr7:61984873-61984874	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200032787	chr7:61984878-61984879	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201005152	chr7:61984888-61984889	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368479966	chr7:61984892-61984893	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557436757	chr7:61984894-61984895	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372132579	chr7:61984903-61984904	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77543337	chr7:61984911-61984912	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372274752	chr7:61984913-61984914	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111747473	chr7:61984918-61984919	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377316770	chr7:61984919-61984920	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75790598	chr7:61984927-61984928	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568245460	chr7:61984937-61984938	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183868872	chr7:61984944-61984945	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78019415	chr7:61984947-61984948	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374254637	chr7:61984950-61984951	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533653510	chr7:61984954-61984955	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565785483	chr7:61984955-61984956	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368125201	chr7:61984966-61984967	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74698673	chr7:61984968-61984969	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539401317	chr7:61984979-61984980	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4718004	chr7:61985024-61985025	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs374791230	chr7:61985049-61985050	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs555142435	chr7:61985076-61985077	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs538131573	chr7:61985080-61985081	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs556848235	chr7:61985087-61985088	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs118069754	chr7:61985092-61985093	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs139627083	chr7:61985095-61985096	ZNF genes & repeats Weak transcription Active TSS	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:809 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61974800-61986400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr7:61974800-61986400	ZNF genes & repeats	Primary T cells from cord blood	blood
3	chr7:61974800-61986400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr7:61974800-61986400	ZNF genes & repeats	HepG2	liver
5	chr7:61974800-61995400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr7:61974800-61995600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:61974800-61998400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr7:61974800-62010000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr7:61974800-62010000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr7:61975200-61986000	Weak transcription	Lung	lung
11	chr7:61977800-61986400	ZNF genes & repeats	Liver	Liver
12	chr7:61980200-61986400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr7:61980400-61986400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr7:61980400-61986400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:61980400-61986400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr7:61981000-61986600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr7:61982800-61985000	ZNF genes & repeats	A549	lung
18	chr7:61983200-61984800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:61983200-61984800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:61983200-61984800	Weak transcription	Small Intestine	intestine
21	chr7:61983200-61986000	Weak transcription	Ovary	ovary
22	chr7:61983200-61986000	Weak transcription	Thymus	Thymus
23	chr7:61983600-61986000	Weak transcription	HSMMtube	muscle
24	chr7:61983800-61984800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:61983800-61984800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:61983800-61986000	Weak transcription	K562	blood
27	chr7:61984400-61986400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
28	chr7:61984600-61985000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:61984600-61985000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
30	chr7:61984600-61985000	ZNF genes & repeats	Brain Hippocampus Middle	brain
31	chr7:61984600-61985000	ZNF genes & repeats	GM12878-XiMat	blood
32	chr7:61984600-61985000	ZNF genes & repeats	HUVEC	blood vessel
33	chr7:61984600-61985000	ZNF genes & repeats	NH-A	brain
34	chr7:61984600-61985200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
35	chr7:61984600-61985200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:61984600-61985200	ZNF genes & repeats	Colonic Mucosa	Colon
37	chr7:61984600-61986400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:61984600-61986400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
39	chr7:61984600-61986400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:61984600-61986400	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr7:61984600-61986400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr7:61984600-61986400	ZNF genes & repeats	Fetal Heart	heart
43	chr7:61984600-61986400	ZNF genes & repeats	Gastric	stomach
44	chr7:61984600-61987400	ZNF genes & repeats	Left Ventricle	heart
45	chr7:61984800-61985000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
46	chr7:61984800-61985000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
47	chr7:61984800-61985000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:61984800-61985000	ZNF genes & repeats	Brain Substantia Nigra	brain
49	chr7:61984800-61985000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr7:61984800-61985000	ZNF genes & repeats	Right Atrium	heart

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