Variant report
Variant | nsv607949 |
---|---|
Chromosome Location | chr7:100331335-100336293 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:7)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CTCF | chr7:100334240-100334390 | HepG2 | liver: | n/a | n/a |
2 | HNF4A | chr7:100334443-100334631 | HepG2 | liver: | n/a | n/a |
3 | POLR2A | chr7:100334514-100334693 | HepG2 | liver: | n/a | n/a |
4 | POLR2A | chr7:100334504-100334656 | HepG2 | liver: | n/a | n/a |
5 | POLR2A | chr7:100331776-100331843 | K562 | blood: | n/a | n/a |
6 | POLR2A | chr7:100335245-100335321 | GM12878 | blood: | n/a | n/a |
7 | POLR2A | chr7:100334700-100334719 | HepG2 | liver: | n/a | n/a |
No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr7:100336156..100338514-chr7:100343827..100346025,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ZAN | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs573313239 | chr7:100331430-100331431 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs117726678 | chr7:100331456-100331457 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs545354109 | chr7:100331492-100331493 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs145136492 | chr7:100331499-100331500 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs572240051 | chr7:100331559-100331560 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs36081558 | chr7:100331573-100331574 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs370510188 | chr7:100331585-100331586 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs560998133 | chr7:100331586-100331587 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs5886131 | chr7:100331683-100331684 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs374203981 | chr7:100331718-100331719 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs531345395 | chr7:100331765-100331766 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs543402314 | chr7:100331766-100331767 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs564756369 | chr7:100331794-100331795 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs377089635 | chr7:100331814-100331815 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs12673246 | chr7:100331837-100331838 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs35738907 | chr7:100331841-100331842 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs373557646 | chr7:100331867-100331868 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs189199600 | chr7:100331930-100331931 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs566055417 | chr7:100331972-100331973 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs545219717 | chr7:100331978-100331979 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs530188797 | chr7:100331991-100331992 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs548386702 | chr7:100331994-100331995 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs570128551 | chr7:100332008-100332009 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs537174540 | chr7:100332009-100332010 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs558894387 | chr7:100332017-100332018 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs570719137 | chr7:100332025-100332026 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs535036029 | chr7:100332079-100332080 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs371895005 | chr7:100332099-100332100 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs113861900 | chr7:100332122-100332123 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs180682002 | chr7:100332133-100332134 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs183769838 | chr7:100332173-100332174 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs563423533 | chr7:100332219-100332220 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs542833156 | chr7:100332228-100332229 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs530875875 | chr7:100332229-100332230 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs528460358 | chr7:100332249-100332250 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs188832293 | chr7:100332250-100332251 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs374514484 | chr7:100332251-100332252 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs148340170 | chr7:100332270-100332271 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs565007512 | chr7:100332325-100332326 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs141523101 | chr7:100332367-100332368 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs181201709 | chr7:100332377-100332378 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs116869417 | chr7:100332395-100332396 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs530367595 | chr7:100332499-100332500 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs548762342 | chr7:100332500-100332501 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs570187388 | chr7:100332529-100332530 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs531150006 | chr7:100332534-100332535 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs552359164 | chr7:100332537-100332538 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs186856462 | chr7:100332540-100332541 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs536342153 | chr7:100332565-100332566 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs534975110 | chr7:100332575-100332576 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
Medulloblastoma | 21979893 | 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 |
Wilms tumour | 21544195 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Gastric cancer | 24379144 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Lissencephaly | 21572526 | CNVD |
Breast cancer | 17603634 | CNVD |
Liposarcoma | 21253554 | CNVD |
Breast cancer | 16397240 | CNVD |
Acute myeloid leukemia | 16864856 | 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 |
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 |
Renal cell carcinoma | 18592004 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Multiple myeloma | 17550852 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Lung cancer | 18438408 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Prostate cancer | 16461572 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Malignant melanoma | 17260012 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 21785460 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Bladder cancer | 21909424 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Biliary cancer | 19435499 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 16608533 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Liver carcinoma | 19366792 | CNVD |
T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
Adenocarcinoma | 19607727 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Breast cancer | 21858162 | CNVD |
Emphysema | 19352772 | CNVD |
Effusion lymphoma | 18079361 | CNVD |
Medulloblastoma | 17653508 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Autism | 19401682 | CNVD |
Neuroticism | 17667963 | CNVD |
Breast cancer | 21509527 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Prostate cancer | 18632612 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Breast cancer | 21364760 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:100319200-100342800 | Weak transcription | Right Atrium | heart |
2 | chr7:100323800-100334400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr7:100325400-100333000 | Weak transcription | Liver | Liver |
4 | chr7:100329200-100334400 | Enhancers | HepG2 | liver |
5 | chr7:100331400-100331800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
6 | chr7:100331400-100331800 | Enhancers | Cortex derived primary cultured neurospheres | brain |
7 | chr7:100331400-100332000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
8 | chr7:100331600-100332000 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
9 | chr7:100333000-100334200 | Enhancers | Liver | Liver |
10 | chr7:100334200-100334400 | Flanking Bivalent TSS/Enh | Foreskin Fibroblast Primary Cells skin02 | Skin |
11 | chr7:100334200-100334800 | Enhancers | Fetal Intestine Large | intestine |
12 | chr7:100334400-100334600 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
13 | chr7:100334400-100334800 | Flanking Active TSS | HepG2 | liver |
14 | chr7:100334400-100335000 | Genic enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
15 | chr7:100334800-100335000 | Bivalent/Poised TSS | Foreskin Fibroblast Primary Cells skin02 | Skin |
16 | chr7:100334800-100335000 | Active TSS | HepG2 | liver |
17 | chr7:100335000-100336000 | Strong transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
18 | chr7:100335000-100336000 | Weak transcription | HepG2 | liver |
19 | chr7:100336000-100337400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
20 | chr7:100336000-100337600 | Enhancers | HepG2 | liver |