Variant report

Variant	nsv888182
Chromosome Location	chr7:61973259-62318236
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
2	chr17:41399589..41402142-chr7:62189772..62191292,2	K562	blood:
3	chr1:121484723..121485367-chr7:62026258..62026778,2	MCF-7	breast:
4	chr7:62284727..62285228-chr9:30620902..30621883,2	MCF-7	breast:
5	chr18:18518513..18519030-chr7:61979393..61979915,2	MCF-7	breast:
6	chr17:41380367..41382313-chr7:62191292..62192792,2	MCF-7	breast:
7	chr17:41398894..41400557-chr7:62191292..62192792,2	K562	blood:
8	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
9	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
10	chr17:41380312..41382165-chr7:62191292..62192792,2	K562	blood:
11	chr1:121483889..121484797-chr7:61974740..61975240,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions

Extended variants
information (count: 26061 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:26061 , 50 per page) page: 1 2 3 4 5 6 7 ... 522

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12668795	chr7:61973259-61973260	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs12666587	chr7:61973260-61973261	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs529553183	chr7:61973265-61973266	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs76803993	chr7:61973266-61973267	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs547780699	chr7:61973269-61973270	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs371279760	chr7:61973270-61973271	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs138048871	chr7:61973276-61973277	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs77242377	chr7:61973279-61973280	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs144300571	chr7:61973280-61973281	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs566410452	chr7:61973282-61973283	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376144443	chr7:61973285-61973286	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs369432116	chr7:61973288-61973289	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs75882475	chr7:61973291-61973292	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs373720207	chr7:61973295-61973296	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs200254791	chr7:61973296-61973297	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201368923	chr7:61973297-61973298	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs76167794	chr7:61973306-61973307	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368943581	chr7:61973318-61973319	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs369514732	chr7:61973319-61973320	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs374560136	chr7:61973325-61973326	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs376877096	chr7:61973330-61973331	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs370424790	chr7:61973334-61973335	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs79777836	chr7:61973340-61973341	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs372927518	chr7:61973343-61973344	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs373550082	chr7:61973344-61973345	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78325070	chr7:61973345-61973346	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs377118874	chr7:61973347-61973348	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs200515658	chr7:61973348-61973349	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs551592995	chr7:61973349-61973350	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs111903006	chr7:61973356-61973357	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs376968848	chr7:61973357-61973358	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs370567503	chr7:61973360-61973361	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs569793549	chr7:61973361-61973362	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs9629815	chr7:61973364-61973365	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs370834387	chr7:61973366-61973367	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs116584692	chr7:61973368-61973369	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs373963339	chr7:61973372-61973373	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368408420	chr7:61973373-61973374	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs371840199	chr7:61973374-61973375	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs375555071	chr7:61973378-61973379	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs555692114	chr7:61973379-61973380	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs368527184	chr7:61973380-61973381	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs372781447	chr7:61973388-61973389	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs375077507	chr7:61973391-61973392	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs368765525	chr7:61973393-61973394	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs372157796	chr7:61973396-61973397	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs376773337	chr7:61973397-61973398	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs199974128	chr7:61973401-61973402	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs535064270	chr7:61973403-61973404	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs12668822	chr7:61973406-61973407	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:1201 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61967200-61973600	ZNF genes & repeats	Primary T cells from cord blood	blood
2	chr7:61967200-61973600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:61967200-61973600	ZNF genes & repeats	Gastric	stomach
4	chr7:61967200-61973600	ZNF genes & repeats	Left Ventricle	heart
5	chr7:61967200-61973800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr7:61967200-61973800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:61967200-61973800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:61967200-61973800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:61967200-61973800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr7:61967200-61973800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr7:61967200-61973800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr7:61967200-61973800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr7:61967200-61973800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr7:61967200-61973800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:61967200-61973800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr7:61967200-61973800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr7:61967200-61973800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
18	chr7:61967200-61973800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:61967200-61973800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr7:61967200-61973800	ZNF genes & repeats	HMEC	breast
21	chr7:61967200-61976600	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr7:61967400-61973800	ZNF genes & repeats	Fetal Stomach	stomach
23	chr7:61968200-61973800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chr7:61968800-61973600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:61968800-61973800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
26	chr7:61969600-61974800	Weak transcription	Lung	lung
27	chr7:61969600-61974800	Weak transcription	NHEK	skin
28	chr7:61970400-61973800	ZNF genes & repeats	Liver	Liver
29	chr7:61970600-61973600	ZNF genes & repeats	Brain Substantia Nigra	brain
30	chr7:61970600-61973600	ZNF genes & repeats	Colonic Mucosa	Colon
31	chr7:61970600-61973600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
32	chr7:61970600-61973800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr7:61970600-61973800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
34	chr7:61970600-61973800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:61970600-61973800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:61970600-61973800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:61970600-61973800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
38	chr7:61970600-61973800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
39	chr7:61970600-61973800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:61970600-61973800	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr7:61970600-61973800	ZNF genes & repeats	Brain Angular Gyrus	brain
42	chr7:61970600-61973800	ZNF genes & repeats	Brain Anterior Caudate	brain
43	chr7:61970600-61973800	ZNF genes & repeats	Brain Hippocampus Middle	brain
44	chr7:61970600-61973800	ZNF genes & repeats	Fetal Brain Male	brain
45	chr7:61970600-61973800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
46	chr7:61970600-61973800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
47	chr7:61970600-61973800	ZNF genes & repeats	HepG2	liver
48	chr7:61970600-61973800	ZNF genes & repeats	HUVEC	blood vessel
49	chr7:61970800-61973600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
50	chr7:61970800-61973600	ZNF genes & repeats	Dnd41	blood

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