Variant report

Variant	esv1833009
Chromosome Location	chr7:63980233-64002859
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:63997907..64000358-chr7:64837346..64839037,2	K562	blood:
2	chr7:64000508..64002509-chr7:64009002..64010825,2	K562	blood:
3	chr7:64001009..64002704-chr7:64008725..64010502,2	K562	blood:
4	chr7:63986578..63988293-chr7:64023127..64024903,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF107-7	chr7:63986386-63987668	ucscGeneNc_uc003ttk_1
2	lnc-ZNF117-5	chr7:63982828-63982878	NONHSAT121020
3	lnc-ZNF117-5	chr7:63982304-63982878	NONHSAT121019

No data

Variant related genes	Relation type
ENSG00000146757	chromatin interactions
ENSG00000173041	chromatin interactions

Extended variants
information (count: 807 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:807 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4717195	chr7:63980233-63980234	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144276446	chr7:63980299-63980300	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549664337	chr7:63980333-63980334	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146099149	chr7:63980338-63980339	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369288956	chr7:63980352-63980353	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537829988	chr7:63980371-63980372	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534860877	chr7:63980496-63980497	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2031169	chr7:63980499-63980500	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76527088	chr7:63980512-63980513	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539455617	chr7:63980527-63980528	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186360993	chr7:63980531-63980532	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139144360	chr7:63980635-63980636	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571814145	chr7:63980724-63980725	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13238614	chr7:63980729-63980730	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs555198582	chr7:63980747-63980748	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386713918	chr7:63980803-63980804	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533810754	chr7:63980805-63980806	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181248002	chr7:63980821-63980822	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376412090	chr7:63980869-63980870	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564643608	chr7:63980930-63980931	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149941375	chr7:63980964-63980965	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17146392	chr7:63980973-63980974	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563694686	chr7:63980976-63980977	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569899945	chr7:63980977-63980978	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551780744	chr7:63980982-63980983	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549702879	chr7:63981068-63981069	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs185502415	chr7:63981078-63981079	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs528726178	chr7:63981100-63981101	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs76222174	chr7:63981103-63981104	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs546320291	chr7:63981155-63981156	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs189767977	chr7:63981169-63981170	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs10228292	chr7:63981188-63981189	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs182038709	chr7:63981189-63981190	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs145006588	chr7:63981237-63981238	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs535036221	chr7:63981267-63981268	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs139775386	chr7:63981373-63981374	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs186332171	chr7:63981394-63981395	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs544190558	chr7:63981405-63981406	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs572236225	chr7:63981412-63981413	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs191691467	chr7:63981417-63981418	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs10243731	chr7:63981425-63981426	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs145991900	chr7:63981459-63981460	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs577738223	chr7:63981461-63981462	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs371089744	chr7:63981489-63981490	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs374491628	chr7:63981505-63981506	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs368764509	chr7:63981525-63981526	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs200720651	chr7:63981527-63981528	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs199907099	chr7:63981558-63981559	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs17852813	chr7:63981559-63981560	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10243954	chr7:63981563-63981564	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:77)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:962 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63964600-63997800	ZNF genes & repeats	Liver	Liver
2	chr7:63965000-63994800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:63966200-63997400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:63966600-63981600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:63967600-63989600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr7:63968800-63988200	ZNF genes & repeats	Dnd41	blood
7	chr7:63969000-63981600	Weak transcription	Right Ventricle	heart
8	chr7:63969000-63983600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr7:63970400-63981000	Weak transcription	HSMM	muscle
10	chr7:63970400-63981200	Weak transcription	NH-A	brain
11	chr7:63970400-63988200	Weak transcription	Hela-S3	cervix
12	chr7:63971600-63982200	Weak transcription	Placenta	Placenta
13	chr7:63973000-63981600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:63974400-63983600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:63974400-64020000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:63975200-63983400	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr7:63976400-63981600	Weak transcription	Left Ventricle	heart
18	chr7:63976400-63981600	Weak transcription	Ovary	ovary
19	chr7:63976400-63988400	Weak transcription	Pancreas	Pancrea
20	chr7:63976800-63982200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr7:63977800-63982800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:63977800-63982800	ZNF genes & repeats	Fetal Lung	lung
23	chr7:63977800-63983400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr7:63978000-63989600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:63978200-64022200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:63978400-63981000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:63978400-63982800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:63978400-63982800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:63978400-63983000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:63978800-63981000	Weak transcription	Fetal Heart	heart
31	chr7:63979000-63981200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:63979000-63981600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:63979000-63983000	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr7:63979000-63989800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr7:63979200-63983600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:63979400-63981200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:63979400-63983600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:63979600-63981600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:63979800-63980600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:63979800-63983000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:63979800-63983800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
42	chr7:63979800-63987600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr7:63980000-63981400	Weak transcription	Psoas Muscle	Psoas
44	chr7:63980000-63982200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:63980000-63987200	Weak transcription	Fetal Thymus	thymus
46	chr7:63980200-63981000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:63980200-63981000	Weak transcription	Right Atrium	heart
48	chr7:63980200-63981000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:63980200-63981000	Weak transcription	A549	lung
50	chr7:63980200-63981600	Weak transcription	Brain Germinal Matrix	brain

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