Variant report

Variant	esv1811140
Chromosome Location	chr7:63781729-63807332
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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:63776375..63777997-chr7:63779996..63782767,2	K562	blood:
2	chr7:63783173..63784738-chr7:63784959..63786518,2	K562	blood:
3	chr7:63766509..63769383-chr7:63791477..63794071,2	K562	blood:
4	chr7:63774364..63776999-chr7:63780245..63782116,2	MCF-7	breast:
5	chr7:63779207..63780856-chr7:63784843..63787222,2	K562	blood:
6	chr7:63798578..63801524-chr7:63803373..63805716,2	MCF-7	breast:
7	chr7:63798578..63801524-chr7:63803373..63805716,2	MCF-7	breast:
8	chr7:63783173..63784738-chr7:63784959..63786518,2	K562	blood:
9	chr7:63783718..63785762-chr7:63790931..63793335,2	K562	blood:
10	chr7:63783718..63785762-chr7:63790931..63793335,2	K562	blood:
11	chr7:63774197..63777165-chr7:63787322..63789474,3	K562	blood:
12	chr7:63779238..63780856-chr7:63785722..63788105,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF679-1	chr7:63782148-63784698	ucscGeneNc_uc003ttf_2
2	lnc-ZNF679-1	chr7:63781900-63782018	ucscGeneNc_uc003ttf_2

No data

Variant related genes	Relation type
ENSG00000234444	chromatin interactions

Extended variants
information (count: 1026 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1026 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10277278	chr7:63781729-63781730	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs599238	chr7:63781804-63781805	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541288210	chr7:63781806-63781807	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564278546	chr7:63781808-63781809	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577960991	chr7:63781839-63781840	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543635252	chr7:63781888-63781889	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs372363215	chr7:63781954-63781955	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs146677322	chr7:63781983-63781984	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs140239383	chr7:63781991-63781992	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs549370629	chr7:63781997-63781998	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs34183287	chr7:63782018-63782019	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs35212562	chr7:63782067-63782068	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73700538	chr7:63782069-63782070	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546466111	chr7:63782086-63782087	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182968411	chr7:63782087-63782088	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188536861	chr7:63782213-63782214	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs562294129	chr7:63782281-63782282	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs144017239	chr7:63782378-63782379	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs571597140	chr7:63782384-63782385	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs113969583	chr7:63782415-63782416	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs36119188	chr7:63782416-63782417	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs112009027	chr7:63782419-63782420	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs537280395	chr7:63782446-63782447	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
24	rs554010104	chr7:63782487-63782488	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs191228725	chr7:63782496-63782497	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs141024036	chr7:63782503-63782504	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
27	rs535167730	chr7:63782510-63782511	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
28	rs13231828	chr7:63782594-63782595	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs60196353	chr7:63782628-63782629	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs116290501	chr7:63782647-63782648	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs558125588	chr7:63782783-63782784	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs183085180	chr7:63782839-63782840	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs543662013	chr7:63782842-63782843	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs563303675	chr7:63782861-63782862	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs574086746	chr7:63782938-63782939	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs542706003	chr7:63782982-63782983	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs150253564	chr7:63783040-63783041	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs529505763	chr7:63783048-63783049	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs551344576	chr7:63783063-63783064	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs661173	chr7:63783103-63783104	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs543522275	chr7:63783157-63783158	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
42	rs531082379	chr7:63783243-63783244	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs578056974	chr7:63783268-63783269	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs62463901	chr7:63783303-63783304	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs567718358	chr7:63783369-63783370	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
46	rs187936507	chr7:63783381-63783382	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs60746353	chr7:63783386-63783387	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565774910	chr7:63783411-63783412	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
49	rs534640063	chr7:63783424-63783425	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
50	rs57341582	chr7:63783448-63783449	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

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
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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63775400-63783800	Weak transcription	Liver	Liver
2	chr7:63775400-63790000	Weak transcription	Gastric	stomach
3	chr7:63775600-63783800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:63775600-63783800	Weak transcription	Colonic Mucosa	Colon
5	chr7:63775600-63783800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:63775600-63790000	Weak transcription	Left Ventricle	heart
7	chr7:63775600-63790200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:63775600-63790200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr7:63775600-63790200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:63775600-63790200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:63775600-63790200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:63775600-63790200	Weak transcription	Placenta	Placenta
13	chr7:63775600-63798800	Weak transcription	Right Ventricle	heart
14	chr7:63775800-63784600	Weak transcription	Thymus	Thymus
15	chr7:63775800-63785400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:63775800-63785600	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:63775800-63790600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:63775800-63791000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:63775800-63791000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:63775800-63792000	Weak transcription	HSMMtube	muscle
21	chr7:63775800-63792400	Weak transcription	Brain Substantia Nigra	brain
22	chr7:63776000-63783800	Weak transcription	Fetal Lung	lung
23	chr7:63776000-63784000	Weak transcription	Fetal Stomach	stomach
24	chr7:63776000-63784800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:63776000-63784800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:63776000-63785400	Weak transcription	Fetal Kidney	kidney
27	chr7:63776200-63783400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:63776200-63783800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr7:63776200-63783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:63776200-63791600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:63776600-63783400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:63776600-63783800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:63776600-63790000	Weak transcription	Ovary	ovary
34	chr7:63776600-63792000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:63776600-63792600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:63776600-63817800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:63776800-63790200	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:63777000-63782800	Weak transcription	Primary T cells from cord blood	blood
39	chr7:63777000-63783800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:63777400-63784800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:63779600-63783800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:63780200-63783600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:63780400-63787600	ZNF genes & repeats	GM12878-XiMat	blood
44	chr7:63780400-63792600	ZNF genes & repeats	Dnd41	blood
45	chr7:63780600-63782400	Enhancers	Primary B cells from peripheral blood	blood
46	chr7:63780600-63784600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:63781000-63781800	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr7:63781200-63781800	Enhancers	Brain Anterior Caudate	brain
49	chr7:63781200-63781800	ZNF genes & repeats	Brain Germinal Matrix	brain
50	chr7:63781200-63786000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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