Variant report

Variant	esv1837508
Chromosome Location	chr7:61978766-62358419
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:18518513..18519030-chr7:61979393..61979915,2	MCF-7	breast:
2	chr7:62284727..62285228-chr9:30620902..30621883,2	MCF-7	breast:
3	chr17:41380312..41382165-chr7:62191292..62192792,2	K562	blood:
4	chr17:41380367..41382313-chr7:62191292..62192792,2	MCF-7	breast:
5	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
6	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
7	chr17:41399589..41402142-chr7:62189772..62191292,2	K562	blood:
8	chr1:121484723..121485367-chr7:62026258..62026778,2	MCF-7	breast:
9	chr17:41398894..41400557-chr7:62191292..62192792,2	K562	blood:
10	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions

Extended variants
information (count: 27592 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:27592 , 50 per page) page: 1 2 3 4 5 6 7 ... 552

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80246113	chr7:61978768-61978769	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs369532449	chr7:61978772-61978773	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs201362778	chr7:61978778-61978779	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375765186	chr7:61978781-61978782	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs4441999	chr7:61978783-61978784	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs368974542	chr7:61978787-61978788	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs372398587	chr7:61978789-61978790	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs4435997	chr7:61978791-61978792	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs79928807	chr7:61978792-61978793	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs78109905	chr7:61978795-61978796	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs375692446	chr7:61978797-61978798	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs553678265	chr7:61978799-61978800	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111377863	chr7:61978805-61978806	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs370562085	chr7:61978807-61978808	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs372817551	chr7:61978808-61978809	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs377380162	chr7:61978816-61978817	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs539272979	chr7:61978820-61978821	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs200843695	chr7:61978821-61978822	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs557458901	chr7:61978822-61978823	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370708636	chr7:61978826-61978827	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs575831907	chr7:61978835-61978836	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs375570786	chr7:61978843-61978844	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs542996943	chr7:61978847-61978848	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs368424301	chr7:61978852-61978853	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs201640039	chr7:61978857-61978858	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs561134930	chr7:61978859-61978860	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs375017248	chr7:61978861-61978862	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs367648573	chr7:61978862-61978863	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs372148726	chr7:61978863-61978864	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs375190626	chr7:61978866-61978867	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs370991741	chr7:61978874-61978875	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs368529762	chr7:61978880-61978881	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs371884639	chr7:61978883-61978884	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs565212433	chr7:61978884-61978885	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs376740207	chr7:61978888-61978889	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs369992664	chr7:61978889-61978890	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs372208542	chr7:61978896-61978897	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs374804943	chr7:61978898-61978899	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs368868206	chr7:61978901-61978902	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs373406629	chr7:61978903-61978904	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs140085298	chr7:61978909-61978910	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs562213646	chr7:61978910-61978911	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs113276255	chr7:61978912-61978913	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs151252332	chr7:61978917-61978918	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs376385114	chr7:61978919-61978920	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529741685	chr7:61978924-61978925	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs75599388	chr7:61978926-61978927	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs369805774	chr7:61978932-61978933	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs111245041	chr7:61978933-61978934	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs566344048	chr7:61978934-61978935	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:905 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61974800-61978800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:61974800-61978800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:61974800-61983200	ZNF genes & repeats	HUVEC	blood vessel
4	chr7:61974800-61983800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
5	chr7:61974800-61986400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr7:61974800-61986400	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr7:61974800-61986400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr7:61974800-61986400	ZNF genes & repeats	HepG2	liver
9	chr7:61974800-61995400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr7:61974800-61995600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:61974800-61998400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr7:61974800-62010000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr7:61974800-62010000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr7:61975200-61986000	Weak transcription	Lung	lung
15	chr7:61976400-61980400	Weak transcription	Ovary	ovary
16	chr7:61976400-61980400	Weak transcription	Right Ventricle	heart
17	chr7:61976600-61980400	Weak transcription	Thymus	Thymus
18	chr7:61976800-61980400	Weak transcription	K562	blood
19	chr7:61976800-61980400	Weak transcription	Osteobl	bone
20	chr7:61977800-61979200	Active TSS	Psoas Muscle	Psoas
21	chr7:61977800-61986400	ZNF genes & repeats	Liver	Liver
22	chr7:61978600-61978800	ZNF genes & repeats	Colon Smooth Muscle	Colon
23	chr7:61978600-61979200	ZNF genes & repeats	NH-A	brain
24	chr7:61978800-61979200	ZNF genes & repeats	GM12878-XiMat	blood
25	chr7:61978800-61980400	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:61979000-61979200	Enhancers	Colonic Mucosa	Colon
27	chr7:61979200-61980400	Weak transcription	Colonic Mucosa	Colon
28	chr7:61979200-61980400	Weak transcription	Psoas Muscle	Psoas
29	chr7:61979200-61980400	Weak transcription	GM12878-XiMat	blood
30	chr7:61979200-61980400	Weak transcription	NH-A	brain
31	chr7:61979800-61980000	Weak transcription	Spleen	Spleen
32	chr7:61980200-61986400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr7:61980400-61980600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:61980400-61980600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:61980400-61980600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
36	chr7:61980400-61980600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
37	chr7:61980400-61980600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
38	chr7:61980400-61980600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
39	chr7:61980400-61980600	Flanking Bivalent TSS/Enh	Aorta	Aorta
40	chr7:61980400-61980600	ZNF genes & repeats	Brain Hippocampus Middle	brain
41	chr7:61980400-61980600	ZNF genes & repeats	Brain Substantia Nigra	brain
42	chr7:61980400-61980600	ZNF genes & repeats	Colon Smooth Muscle	Colon
43	chr7:61980400-61980600	ZNF genes & repeats	Fetal Kidney	kidney
44	chr7:61980400-61980600	ZNF genes & repeats	Fetal Lung	lung
45	chr7:61980400-61980600	ZNF genes & repeats	Gastric	stomach
46	chr7:61980400-61980600	ZNF genes & repeats	Ovary	ovary
47	chr7:61980400-61980600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
48	chr7:61980400-61980600	ZNF genes & repeats	Spleen	Spleen
49	chr7:61980400-61980600	ZNF genes & repeats	HSMMtube	muscle
50	chr7:61980400-61980600	Flanking Bivalent TSS/Enh	NHLF	lung

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