Variant report
Variant | nsv970503 |
---|---|
Chromosome Location | chr7:64040317-64051160 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:35)
- CpG islands (count:244)
- Chromatin interactive region (count:0)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:35 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CBX3 | chr7:64042226-64042600 | K562 | blood: | n/a | n/a |
2 | CEBPB | chr7:64050307-64050511 | HepG2 | liver: | n/a | chr7:64050376-64050387 chr7:64050375-64050386 chr7:64050375-64050388 chr7:64050375-64050388 |
3 | CEBPB | chr7:64050323-64050496 | IMR90 | lung: | n/a | chr7:64050376-64050387 chr7:64050375-64050386 chr7:64050375-64050388 chr7:64050375-64050388 |
4 | CEBPB | chr7:64042154-64042567 | K562 | blood: | n/a | n/a |
5 | CEBPD | chr7:64042221-64042715 | K562 | blood: | n/a | n/a |
6 | E2F6 | chr7:64042982-64043147 | K562 | blood: | n/a | n/a |
7 | EP300 | chr7:64042324-64042620 | K562 | blood: | n/a | n/a |
8 | GABPA | chr7:64042369-64042608 | K562 | blood: | n/a | n/a |
9 | GATA2 | chr7:64042254-64042616 | K562 | blood: | n/a | n/a |
10 | JUND | chr7:64042355-64042486 | K562 | blood: | n/a | n/a |
11 | MAFK | chr7:64043185-64043368 | HepG2 | liver: | n/a | chr7:64043275-64043290 |
12 | MAFK | chr7:64043223-64043321 | HepG2 | liver: | n/a | chr7:64043275-64043290 |
13 | MAX | chr7:64045500-64045501 | NB4 | blood: | n/a | n/a |
14 | MYC | chr7:64048469-64048589 | K562 | blood: | n/a | n/a |
15 | NR2F2 | chr7:64042333-64042689 | K562 | blood: | n/a | n/a |
16 | NR2F2 | chr7:64042205-64042617 | K562 | blood: | n/a | n/a |
17 | PML | chr7:64042269-64042657 | K562 | blood: | n/a | n/a |
18 | POLR2A | chr7:64043072-64043166 | A549 | lung: | n/a | n/a |
19 | POLR2A | chr7:64042327-64042543 | K562 | blood: | n/a | n/a |
20 | POLR2A | chr7:64049292-64049419 | MCF10A-Er-Src | breast: | n/a | n/a |
21 | POLR2A | chr7:64042339-64042579 | K562 | blood: | n/a | n/a |
22 | POLR2A | chr7:64046853-64046971 | GM12878 | blood: | n/a | n/a |
23 | RCOR1 | chr7:64042372-64042634 | K562 | blood: | n/a | n/a |
24 | RCOR1 | chr7:64042386-64042633 | K562 | blood: | n/a | n/a |
25 | REST | chr7:64042396-64042539 | K562 | blood: | n/a | n/a |
26 | REST | chr7:64042325-64042652 | K562 | blood: | n/a | n/a |
27 | STAT5A | chr7:64042305-64042680 | K562 | blood: | n/a | n/a |
28 | STAT5A | chr7:64042206-64042694 | K562 | blood: | n/a | n/a |
29 | TAL1 | chr7:64042246-64042665 | K562 | blood: | n/a | n/a |
30 | TBL1XR1 | chr7:64042389-64042569 | K562 | blood: | n/a | n/a |
31 | TEAD4 | chr7:64042228-64042771 | K562 | blood: | n/a | n/a |
32 | TEAD4 | chr7:64042230-64042801 | K562 | blood: | n/a | n/a |
33 | TRIM28 | chr7:64042207-64042667 | K562 | blood: | n/a | n/a |
34 | YY1 | chr7:64042335-64042636 | K562 | blood: | n/a | n/a |
35 | ZBTB7A | chr7:64042985-64043103 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr7:64043012-64043062 | HMEC | breast: | n/a |
2 | chr7:64043119-64043169 | AG10803 | skin: | n/a |
3 | chr7:64043012-64043062 | Caco-2 | colon: | n/a |
4 | chr7:64043119-64043169 | ECC-1 | luminal epithelium: | n/a |
5 | chr7:64043012-64043062 | HAEpiC | amniotic membrane: | n/a |
6 | chr7:64041980-64042030 | GM06990 | blood: | n/a |
7 | chr7:64043012-64043062 | SK-N-SH_RA | brain: | n/a |
8 | chr7:64043012-64043062 | SK-N-MC | brain: | n/a |
9 | chr7:64043119-64043169 | AG04450 | lung: | fetal |
10 | chr7:64043193-64043243 | T-47D | breast: | n/a |
11 | chr7:64043193-64043243 | HMEC | breast: | n/a |
12 | chr7:64043119-64043169 | AG09309 | skin: | n/a |
13 | chr7:64043012-64043062 | HEEpiC | esophagus: | n/a |
14 | chr7:64043193-64043243 | SAEC | small airway: | n/a |
15 | chr7:64043012-64043062 | PrEC | prostate: | n/a |
16 | chr7:64043193-64043243 | HEEpiC | esophagus: | n/a |
17 | chr7:64041980-64042030 | Hepatocyte | liver: | n/a |
18 | chr7:64043119-64043169 | HRCEpiC | kidney: | n/a |
19 | chr7:64043012-64043062 | MCF-7 | breast: | n/a |
20 | chr7:64043012-64043062 | PFSK-1 | brain: | n/a |
21 | chr7:64043119-64043169 | HCT-116 | colon: | n/a |
22 | chr7:64041980-64042030 | MCF-7 | breast: | n/a |
23 | chr7:64043012-64043062 | HL-60 | blood: | n/a |
24 | chr7:64043193-64043243 | MCF10A-Er-Src | breast: | n/a |
25 | chr7:64043012-64043062 | HUVEC | blood vessel: | n/a |
26 | chr7:64041980-64042030 | A549 | lung: | n/a |
27 | chr7:64043119-64043169 | NB4 | blood: | n/a |
28 | chr7:64041980-64042030 | Caco-2 | colon: | n/a |
29 | chr7:64041980-64042030 | HAEpiC | amniotic membrane: | n/a |
30 | chr7:64043012-64043062 | SKMC | muscle: | n/a |
31 | chr7:64043119-64043169 | PFSK-1 | brain: | n/a |
32 | chr7:64041980-64042030 | HUVEC | blood vessel: | n/a |
33 | chr7:64043012-64043062 | PANC-1 | pancreas: | n/a |
34 | chr7:64043119-64043169 | SAEC | small airway: | n/a |
35 | chr7:64043012-64043062 | HRCEpiC | kidney: | n/a |
36 | chr7:64041980-64042030 | AG09309 | skin: | n/a |
37 | chr7:64043012-64043062 | AG04450 | lung: | fetal |
38 | chr7:64041980-64042030 | PrEC | prostate: | n/a |
39 | chr7:64043193-64043243 | SK-N-SH_RA | brain: | n/a |
40 | chr7:64043193-64043243 | PFSK-1 | brain: | n/a |
41 | chr7:64043119-64043169 | MCF10A-Er-Src | breast: | n/a |
42 | chr7:64043193-64043243 | GM06990 | blood: | n/a |
43 | chr7:64043119-64043169 | HAEpiC | amniotic membrane: | n/a |
44 | chr7:64041980-64042030 | AG04449 | skin: | fetal |
45 | chr7:64043193-64043243 | IMR90 | lung: | fetal |
46 | chr7:64043012-64043062 | ProgFib | skin: | n/a |
47 | chr7:64043119-64043169 | T-47D | breast: | n/a |
48 | chr7:64043119-64043169 | HRE | kidney: | n/a |
49 | chr7:64043193-64043243 | AG10803 | skin: | n/a |
50 | chr7:64043193-64043243 | SKMC | muscle: | n/a |
No data |
(count:2 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ZNF107-4 | chr7:64043111-64043585 | NONHSAT121027 |
2 | lnc-ZNF107-4 | chr7:64042988-64044129 | NONHSAT121026 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000224669 | TF binding region |
ENSG00000224669 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs186472354 | chr7:64040325-64040326 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs117402467 | chr7:64040338-64040339 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs537623633 | chr7:64040358-64040359 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs117792548 | chr7:64040364-64040365 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs10224188 | chr7:64040410-64040411 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs577750093 | chr7:64040419-64040420 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs540350161 | chr7:64040454-64040455 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs562415831 | chr7:64040455-64040456 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs189623546 | chr7:64040595-64040596 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs548017245 | chr7:64040692-64040693 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs181922564 | chr7:64040711-64040712 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs145701585 | chr7:64040727-64040728 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs201638578 | chr7:64040741-64040742 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs76174437 | chr7:64040752-64040753 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs113952083 | chr7:64040764-64040765 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs551874469 | chr7:64040795-64040796 | ZNF genes & repeats Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs186899472 | chr7:64040811-64040812 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs28801490 | chr7:64040816-64040817 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs113885555 | chr7:64040828-64040829 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs373997754 | chr7:64040895-64040896 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs34653012 | chr7:64040900-64040901 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs574720645 | chr7:64040965-64040966 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs533820843 | chr7:64040974-64040975 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs554046616 | chr7:64041075-64041076 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs368805678 | chr7:64041091-64041092 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs573942271 | chr7:64041093-64041094 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs62461556 | chr7:64041137-64041138 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs35218585 | chr7:64041142-64041143 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs576565996 | chr7:64041146-64041147 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs542250941 | chr7:64041198-64041199 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs183069306 | chr7:64041232-64041233 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs186410419 | chr7:64041258-64041259 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs368877908 | chr7:64041271-64041272 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs541376688 | chr7:64041304-64041305 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs564410715 | chr7:64041326-64041327 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs533351090 | chr7:64041327-64041328 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs111752017 | chr7:64041341-64041342 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs557165474 | chr7:64041377-64041378 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs559738321 | chr7:64041380-64041381 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs189728810 | chr7:64041387-64041388 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs200746247 | chr7:64041390-64041391 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs548194054 | chr7:64041393-64041394 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs565461599 | chr7:64041464-64041465 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs533750295 | chr7:64041472-64041473 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs186641157 | chr7:64041485-64041486 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs376157559 | chr7:64041496-64041497 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs577893020 | chr7:64041586-64041587 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs539655789 | chr7:64041647-64041648 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs556385496 | chr7:64041679-64041680 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs576528187 | chr7:64041692-64041693 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
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 |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:64035600-64043000 | Weak transcription | Right Atrium | heart |
2 | chr7:64037800-64040800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr7:64038800-64040800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
4 | chr7:64038800-64040800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
5 | chr7:64038800-64043200 | Strong transcription | ES-UCSF4 Cell Line | embryonic stem cell |
6 | chr7:64039400-64064000 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
7 | chr7:64040800-64042000 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
8 | chr7:64040800-64042000 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
9 | chr7:64041800-64042800 | Enhancers | Stomach Mucosa | stomach |
10 | chr7:64041800-64043400 | Enhancers | Ovary | ovary |
11 | chr7:64042000-64042800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
12 | chr7:64042000-64043200 | Enhancers | Fetal Heart | heart |
13 | chr7:64042000-64043800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
14 | chr7:64042200-64042600 | Enhancers | Osteobl | bone |
15 | chr7:64042200-64042800 | Enhancers | K562 | blood |
16 | chr7:64042600-64043200 | Enhancers | Left Ventricle | heart |
17 | chr7:64043000-64043200 | Enhancers | Gastric | stomach |
18 | chr7:64043000-64043200 | Enhancers | Right Atrium | heart |
19 | chr7:64043200-64044600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
20 | chr7:64044600-64046000 | Strong transcription | ES-UCSF4 Cell Line | embryonic stem cell |
21 | chr7:64046000-64059400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
22 | chr7:64046200-64047800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
23 | chr7:64046800-64047600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |