Variant report
Variant | esv3438739 |
---|---|
Chromosome Location | chr6:34052624-34055122 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:7 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:34044767..34048120-chr6:34049441..34052801,3 | K562 | blood: | |
2 | chr6:34054860..34057739-chr6:34078250..34080153,2 | K562 | blood: | |
3 | chr6:34030201..34031924-chr6:34051534..34054299,3 | K562 | blood: | |
4 | chr6:34053125..34055398-chr6:34055547..34057394,2 | MCF-7 | breast: | |
5 | chr6:34050847..34053131-chr6:34057626..34059685,2 | K562 | blood: | |
6 | chr6:34021885..34024732-chr6:34051726..34053954,2 | MCF-7 | breast: | |
7 | chr6:34042850..34045012-chr6:34054225..34056709,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000124493 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs528474904 | chr6:34052682-34052683 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs143328023 | chr6:34052691-34052692 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs576041425 | chr6:34052730-34052731 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs543260019 | chr6:34052758-34052759 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs546952356 | chr6:34052765-34052766 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs902199 | chr6:34052768-34052769 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs147498057 | chr6:34052783-34052784 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs576942296 | chr6:34052878-34052879 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs185820034 | chr6:34052895-34052896 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs377508637 | chr6:34052903-34052904 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs112472224 | chr6:34052958-34052959 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs11966709 | chr6:34052964-34052965 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs937043 | chr6:34052985-34052986 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs140096684 | chr6:34053057-34053058 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs28508505 | chr6:34053120-34053121 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs190581370 | chr6:34053133-34053134 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs561238698 | chr6:34053134-34053135 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs183607250 | chr6:34053236-34053237 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs529952615 | chr6:34053240-34053241 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs568990653 | chr6:34053297-34053298 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs116066130 | chr6:34053303-34053304 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs538830597 | chr6:34053341-34053342 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs114888058 | chr6:34053352-34053353 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs566002098 | chr6:34053414-34053415 | Weak transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs1873249 | chr6:34053424-34053425 | Weak transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
26 | rs554104112 | chr6:34053530-34053531 | Weak transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs141193723 | chr6:34053549-34053550 | Weak transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs537195506 | chr6:34053586-34053587 | Weak transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs558355281 | chr6:34053599-34053600 | Weak transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs576985235 | chr6:34053601-34053602 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs541200354 | chr6:34053635-34053636 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs576941304 | chr6:34053648-34053649 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs187378458 | chr6:34053654-34053655 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs370390236 | chr6:34053658-34053659 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs574747998 | chr6:34053659-34053660 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs2499707 | chr6:34053666-34053667 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs561381722 | chr6:34053676-34053677 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs531587732 | chr6:34053692-34053693 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs77490194 | chr6:34053693-34053694 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs565198636 | chr6:34053739-34053740 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs574788878 | chr6:34053754-34053755 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs77620178 | chr6:34053759-34053760 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs566041419 | chr6:34053764-34053765 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs139032373 | chr6:34053787-34053788 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs79113239 | chr6:34053814-34053815 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs575766983 | chr6:34053856-34053857 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs78137467 | chr6:34053857-34053858 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs7750610 | chr6:34053897-34053898 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs149888784 | chr6:34053905-34053906 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs117952886 | chr6:34053906-34053907 | Weak transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Follicular lymphoma | 20505157 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Leukemia | 21518781 | CNVD |
Cancer | 21637783 | CNVD |
Facial dysmorphism | 22105932 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Bladder cancer | 19088036 | CNVD |
Wilms tumour | 21544195 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Biliary cancer | 19435499 | CNVD |
Malaria | 21533027 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 16790693 | CNVD |
Cervical cancer | 21062161 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Cancer | 21183584 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Gastric cancer | 17908304 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Schizophrenia | 19571808 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Neuroblastoma | 16790693 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 16397240 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Systemic lupus erythematosus | 20877625 | CNVD |
Cleidocranial dysplasia | 18696259 | CNVD |
Holoprosencephaly | 21359414 | CNVD |
Liposarcoma | 21253554 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Fibroblasts | 20926602 | CNVD |
Systemic lupus erythematosus | 19279649 | CNVD |
Retinoblastoma | 16790693 | CNVD |
Acute myocardial infarction | 18032375 | CNVD |
Renal cell carcinoma | 19150565 | CNVD |
Systemic lupus erythematosus | 19591781 | CNVD |
Attention deficit hyperactivity disorder | 19287146 | CNVD |
Autism | 19287146 | CNVD |
Erythema nodosum in leprosy | 19287146 | CNVD |
Henoch-schoenlein purpura | 19287146 | CNVD |
Liver cirrhosis | 19287146 | CNVD |
Systemic lupus erythematosus | 19287146 | CNVD |
Autoimmune disease | 19135723 | CNVD |
Congenital adrenal hyperplasia | 18478071 | CNVD |
Systemic lupus erythematosus | 19287147 | CNVD |
Osteosarcoma | 16790693 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Cancer | 22183965 | CNVD |
Melanoma | 22183965 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Lung cancer | 18438408 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Breast cancer | 21364760 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Basal cell lymphoma | 19029149 | CNVD |
Diffuse large b-cell lymphoma | 19029149 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:34025000-34101800 | Weak transcription | Right Atrium | heart |
2 | chr6:34027400-34066400 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
3 | chr6:34045800-34065000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
4 | chr6:34048800-34053000 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
5 | chr6:34050200-34053400 | Enhancers | Fetal Brain Male | brain |
6 | chr6:34050400-34053000 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
7 | chr6:34051200-34060200 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
8 | chr6:34051400-34089000 | Weak transcription | H9 Cell Line | embryonic stem cell |
9 | chr6:34052200-34060400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
10 | chr6:34052600-34062400 | Weak transcription | H1 Cell Line | embryonic stem cell |
11 | chr6:34053000-34054400 | Genic enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
12 | chr6:34053000-34058200 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
13 | chr6:34053600-34054000 | Enhancers | Spleen | Spleen |
14 | chr6:34054000-34054200 | Bivalent Enhancer | Foreskin Fibroblast Primary Cells skin02 | Skin |
15 | chr6:34054000-34054200 | Bivalent Enhancer | Foreskin Melanocyte Primary Cells skin01 | Skin |
16 | chr6:34054000-34059600 | Weak transcription | Spleen | Spleen |
17 | chr6:34054200-34054800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
18 | chr6:34054200-34054800 | Enhancers | HMEC | breast |
19 | chr6:34054400-34055400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
20 | chr6:34054800-34055200 | Weak transcription | HMEC | breast |