Variant report
Variant | rs2072608 |
---|---|
Chromosome Location | chr14:22320373-22320374 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:146)
- CpG islands (count:61)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:22320326-22320376 | PrEC | prostate: | n/a |
2 | chr14:22320326-22320376 | AoSMC | blood vessel: | n/a |
3 | chr14:22320326-22320376 | SAEC | small airway: | n/a |
4 | chr14:22320326-22320376 | MCF10A-Er-Src | breast: | n/a |
5 | chr14:22320326-22320376 | PANC-1 | pancreas: | n/a |
6 | chr14:22320326-22320376 | U87 | brain: | n/a |
7 | chr14:22320326-22320376 | SKMC | muscle: | n/a |
8 | chr14:22320326-22320376 | ProgFib | skin: | n/a |
9 | chr14:22320326-22320376 | Hela-S3 | cervix: | n/a |
10 | chr14:22320326-22320376 | PFSK-1 | brain: | n/a |
11 | chr14:22320326-22320376 | HepG2 | liver: | n/a |
12 | chr14:22320326-22320376 | GM12891 | blood: | n/a |
13 | chr14:22320326-22320376 | ECC-1 | luminal epithelium: | n/a |
14 | chr14:22320326-22320376 | NHBE | bronchial: | n/a |
15 | chr14:22320326-22320376 | AG04450 | lung: | fetal |
16 | chr14:22320326-22320376 | CMK | blood: | n/a |
17 | chr14:22320326-22320376 | K562 | blood: | n/a |
18 | chr14:22320326-22320376 | T-47D | breast: | n/a |
19 | chr14:22320326-22320376 | RPTEC | kidney: | n/a |
20 | chr14:22320326-22320376 | HCPEpiC | choroid plexus: | n/a |
21 | chr14:22320326-22320376 | HCT-116 | colon: | n/a |
22 | chr14:22320326-22320376 | HL-60 | blood: | n/a |
23 | chr14:22320326-22320376 | AG10803 | skin: | n/a |
24 | chr14:22320326-22320376 | HCM | heart: | n/a |
25 | chr14:22320326-22320376 | SK-N-MC | brain: | n/a |
26 | chr14:22320326-22320376 | SK-N-SH | brain: | n/a |
27 | chr14:22320326-22320376 | GM12878 | blood: | n/a |
28 | chr14:22320326-22320376 | NH-A | brain: | n/a |
29 | chr14:22320326-22320376 | ovcar-3 | ovarian: | n/a |
30 | chr14:22320326-22320376 | A549 | lung: | n/a |
31 | chr14:22320326-22320376 | HEK293 | kidney: | embryo |
32 | chr14:22320326-22320376 | NT2-D1 | testis: | n/a |
33 | chr14:22320326-22320376 | GM12892 | blood: | n/a |
34 | chr14:22320326-22320376 | NB4 | blood: | n/a |
35 | chr14:22320326-22320376 | GM19239 | blood: | n/a |
36 | chr14:22320326-22320376 | Hepatocyte | liver: | n/a |
37 | chr14:22320326-22320376 | NHDF-neo | bronchial: | n/a |
38 | chr14:22320326-22320376 | Jurkat | blood: | n/a |
39 | chr14:22320326-22320376 | HEEpiC | esophagus: | n/a |
40 | chr14:22320326-22320376 | GM06990 | blood: | n/a |
41 | chr14:22320326-22320376 | HCF | heart: | n/a |
42 | chr14:22320326-22320376 | BE2_C | brain: | n/a |
43 | chr14:22320326-22320376 | HPAEpiC | pulmonary alveolar: | n/a |
44 | chr14:22320326-22320376 | AG09319 | gingival: | n/a |
45 | chr14:22320326-22320376 | HMEC | breast: | n/a |
46 | chr14:22320326-22320376 | IMR90 | lung: | fetal |
47 | chr14:22320326-22320376 | HNPCEpiC | eye: | n/a |
48 | chr14:22320326-22320376 | Caco-2 | colon: | n/a |
49 | chr14:22320326-22320376 | AG04449 | skin: | fetal |
50 | chr14:22320326-22320376 | HIPEpiC | eye: | n/a |
(count:2 , 50 per page) page:
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Variant related genes | Relation type |
---|---|
TRAV8-3 | TF binding region |
TRAV8-3 | CpG island |
ENSG00000211784 | Chromatin interaction |
ENSG00000256379 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10131311 | 0.92[CEU][hapmap] |
rs10459485 | 0.84[CEU][hapmap];0.80[MEX][hapmap] |
rs10872956 | 0.88[CEU][hapmap] |
rs10872957 | 0.83[CEU][hapmap] |
rs11157244 | 0.85[CEU][hapmap] |
rs11620886 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11623553 | 0.96[CEU][hapmap];0.89[GIH][hapmap] |
rs11625436 | 0.91[CEU][hapmap] |
rs11626323 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11629404 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11629446 | 0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12434548 | 0.92[CEU][hapmap] |
rs12878216 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12878351 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12878478 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12878494 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12879611 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12880912 | 0.85[CEU][hapmap] |
rs12881322 | 0.92[CEU][hapmap] |
rs12882219 | 0.87[CEU][hapmap] |
rs12882572 | 0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12882662 | 0.85[CEU][hapmap];0.84[MEX][hapmap] |
rs12884453 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12884540 | 0.85[CEU][hapmap];0.84[MEX][hapmap] |
rs12886640 | 0.96[CEU][hapmap] |
rs12887095 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12887802 | 0.84[CEU][hapmap] |
rs12888589 | 0.85[CEU][hapmap];0.80[MEX][hapmap] |
rs12888908 | 0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12892925 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12895584 | 0.92[CEU][hapmap] |
rs12897417 | 1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap] |
rs12897844 | 0.92[CEU][hapmap] |
rs1534814 | 0.83[CEU][hapmap] |
rs2017224 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2017263 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2017432 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2072609 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2204936 | 1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2204937 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2204951 | 0.84[CEU][hapmap] |
rs2204953 | 0.85[CEU][hapmap] |
rs2222917 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2254896 | 0.80[CEU][hapmap] |
rs2272542 | 0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2272543 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2272544 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2272545 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2272546 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2320059 | 0.80[CEU][hapmap] |
rs2320061 | 0.85[CEU][hapmap] |
rs2320063 | 1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs2733763 | 0.80[CEU][hapmap] |
rs2733764 | 0.80[CEU][hapmap] |
rs2856406 | 0.83[CEU][hapmap] |
rs2856413 | 0.84[CEU][hapmap] |
rs4366632 | 0.92[CEU][hapmap] |
rs4561349 | 0.89[CHB][hapmap];0.86[JPT][hapmap] |
rs4982511 | 0.80[CEU][hapmap] |
rs58150830 | 0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs59599784 | 0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs66543873 | 0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs66805366 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs714618 | 0.80[CEU][hapmap] |
rs7155867 | 1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs7158561 | 0.85[CEU][hapmap];0.80[MEX][hapmap] |
rs760000 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs760001 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs760002 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs760003 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs8004251 | 1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap] |
rs8011006 | 0.85[CEU][hapmap] |
rs8013555 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs8015464 | 0.97[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs8019485 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs909073 | 0.83[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs909074 | 0.84[CEU][hapmap] |
rs956163 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1042309 | chr14:22042511-22866936 | Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 90 gene(s) | inside rSNPs | diseases |
2 | nsv563852 | chr14:22205447-22344160 | Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
3 | nsv1037902 | chr14:22229021-22354103 | Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
4 | nsv832741 | chr14:22235781-22413637 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
5 | esv3387723 | chr14:22255284-22397765 | Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
6 | nsv901481 | chr14:22262039-22333939 | Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
7 | nsv430885 | chr14:22267491-22975700 | Enhancers Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 124 gene(s) | inside rSNPs | diseases |
8 | nsv524527 | chr14:22288841-22387318 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
9 | nsv430886 | chr14:22290777-22975700 | Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 123 gene(s) | inside rSNPs | diseases |
10 | nsv1045059 | chr14:22299148-22911214 | Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 84 gene(s) | inside rSNPs | diseases |
11 | nsv916328 | chr14:22299151-22793429 | Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 56 gene(s) | inside rSNPs | diseases |
12 | nsv430887 | chr14:22299981-23069853 | Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 173 gene(s) | inside rSNPs | diseases |
13 | nsv832742 | chr14:22307760-22501748 | Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 22 gene(s) | inside rSNPs | diseases |
14 | esv3376001 | chr14:22309888-22356663 | Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
15 | esv3510505 | chr14:22315317-22363164 | Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
16 | esv3510506 | chr14:22315317-22363164 | Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:22314600-22326600 | Active TSS | Primary T cells from cord blood | blood |
2 | chr14:22317000-22320800 | Weak transcription | Primary T cells effector/memory enriched fromperipheralblood | blood |
3 | chr14:22318200-22320400 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
4 | chr14:22318400-22320400 | Active TSS | Primary T helper cells PMA-I stimulated | -- |
5 | chr14:22319200-22320600 | Enhancers | Primary T helper cells fromperipheralblood | blood |
6 | chr14:22319600-22320600 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
7 | chr14:22320000-22320400 | Enhancers | Primary T helper 17 cells PMA-I stimulated | -- |
8 | chr14:22320000-22320400 | Enhancers | Fetal Thymus | thymus |
9 | chr14:22320000-22321000 | Active TSS | Primary T helper naive cells fromperipheralblood | blood |
10 | chr14:22320000-22324600 | Active TSS | Primary T regulatory cells fromperipheralblood | blood |
11 | chr14:22320200-22320400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
12 | chr14:22320200-22320400 | Enhancers | Thymus | Thymus |
13 | chr14:22320200-22320600 | Enhancers | Primary T killer memory cells from peripheral blood | blood |
14 | chr14:22320200-22323200 | Active TSS | Primary T killer naive cells fromperipheralblood | blood |
15 | chr14:22320200-22325200 | Active TSS | Primary T cells fromperipheralblood | blood |