Variant report
Variant | rs5945195 |
---|---|
Chromosome Location | chrX:153725343-153725344 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3)
- CpG islands (count:0)
- Chromatin interactive region (count:36)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:3 , 50 per page) page:
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No data |
(count:36 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | X:153649561-153657611..X:153719993-153730954 | Hela-S3 | cervix: | |
2 | X:153681712-153701576..X:153719993-153730954 | Hela-S3 | cervix: | |
3 | X:153719993-153730954..X:153994716-154000894 | K562 | blood: | |
4 | chrX:153722923..153725739-chrX:153743923..153746815,2 | MCF-7 | breast: | |
5 | X:153719993-153730954..X:154002691-154005706 | K562 | blood: | |
6 | X:153574513-153584637..X:153719993-153730954 | Hela-S3 | cervix: | |
7 | X:153537523-153552005..X:153719993-153730954 | K562 | blood: | |
8 | X:153648319-153649200..X:153719993-153730954 | K562 | blood: | |
9 | X:153676883-153681712..X:153719993-153730954 | Hela-S3 | cervix: | |
10 | X:153719993-153730954..X:154298909-154305587 | K562 | blood: | |
11 | chrX:153721900..153725529-chrX:153738653..153743777,6 | K562 | blood: | |
12 | X:153198557-153214268..X:153719993-153730954 | H1-hESC | embryonic stem cell: | embryo |
13 | X:153719993-153730954..X:153989469-153994716 | K562 | blood: | |
14 | X:153240638-153254508..X:153719993-153730954 | Hela-S3 | cervix: | |
15 | X:153284529-153289470..X:153719993-153730954 | K562 | blood: | |
16 | X:153719993-153730954..X:153755323-153771683 | K562 | blood: | |
17 | chrX:153713080..153721291-chrX:153722442..153727868,15 | K562 | blood: | |
18 | X:153719993-153730954..X:154015910-154019964 | K562 | blood: | |
19 | X:153625659-153635385..X:153719993-153730954 | GM12878 | blood: | |
20 | chrX:153672494..153675692-chrX:153724715..153727069,3 | K562 | blood: | |
21 | X:153190397-153198557..X:153719993-153730954 | K562 | blood: | |
22 | X:153719993-153730954..X:154013320-154015910 | K562 | blood: | |
23 | chrX:153711607..153725784-chrX:153738770..153748754,27 | K562 | blood: | |
24 | X:153214268-153230257..X:153719993-153730954 | K562 | blood: | |
25 | chrX:153721124..153725874-chrX:153733125..153737567,6 | K562 | blood: | |
26 | X:153126719-153139428..X:153719993-153730954 | K562 | blood: | |
27 | X:153272101-153284529..X:153719993-153730954 | K562 | blood: | |
28 | X:153635385-153648319..X:153719993-153730954 | K562 | blood: | |
29 | X:153586280-153597086..X:153719993-153730954 | Hela-S3 | cervix: | |
30 | X:153532787-153537523..X:153719993-153730954 | K562 | blood: | |
31 | X:153719993-153730954..X:154000894-154002691 | H1-hESC | embryonic stem cell: | embryo |
32 | X:153360692-153365301..X:153719993-153730954 | K562 | blood: | |
33 | X:153307734-153315090..X:153719993-153730954 | K562 | blood: | |
34 | X:153187063-153190397..X:153719993-153730954 | Hela-S3 | cervix: | |
35 | X:153719993-153730954..X:154027387-154034565 | K562 | blood: | |
36 | X:153182878-153187063..X:153719993-153730954 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
RN7SL697P | TF binding region |
RN7SL742P | TF binding region |
ENSG00000198910 | Chromatin interaction |
ENSG00000172534 | Chromatin interaction |
ENSG00000013563 | Chromatin interaction |
ENSG00000206948 | Chromatin interaction |
ENSG00000071553 | Chromatin interaction |
ENSG00000102178 | Chromatin interaction |
ENSG00000185515 | Chromatin interaction |
ENSG00000184216 | Chromatin interaction |
ENSG00000071859 | Chromatin interaction |
ENSG00000102032 | Chromatin interaction |
ENSG00000196924 | Chromatin interaction |
ENSG00000169057 | Chromatin interaction |
ENSG00000089820 | Chromatin interaction |
ENSG00000073009 | Chromatin interaction |
ENSG00000197180 | Chromatin interaction |
ENSG00000177854 | Chromatin interaction |
ENSG00000130827 | Chromatin interaction |
ENSG00000160211 | Chromatin interaction |
ENSG00000071889 | Chromatin interaction |
ENSG00000102125 | Chromatin interaction |
ENSG00000147403 | Chromatin interaction |
ENSG00000207165 | Chromatin interaction |
ENSG00000130826 | Chromatin interaction |
ENSG00000007350 | Chromatin interaction |
ENSG00000130830 | Chromatin interaction |
ENSG00000265176 | Chromatin interaction |
ENSG00000214827 | Chromatin interaction |
ENSG00000182712 | Chromatin interaction |
ENSG00000126903 | Chromatin interaction |
ENSG00000206693 | Chromatin interaction |
ENSG00000211524 | Chromatin interaction |
ENSG00000102030 | Chromatin interaction |
ENSG00000261773 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs1050047 | 1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap] |
rs12392447 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap] |
rs17052003 | 0.81[CEU][hapmap] |
rs2071429 | 0.91[CEU][hapmap] |
rs2315325 | 1.00[ASW][hapmap];0.91[CEU][hapmap];0.86[CHB][hapmap] |
rs2472393 | 1.00[ASW][hapmap];0.91[CEU][hapmap] |
rs2472394 | 0.81[CEU][hapmap] |
rs4542114 | 0.86[CHB][hapmap] |
rs4898389 | 0.91[CEU][hapmap] |
rs5945100 | 0.90[CEU][hapmap] |
rs5945218 | 0.81[CEU][hapmap] |
rs5945429 | 0.89[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap] |
rs5945431 | 0.91[CEU][hapmap];0.86[CHB][hapmap] |
rs5945433 | 0.91[CEU][hapmap];1.00[CHB][hapmap] |
rs5945434 | 0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs5986979 | 1.00[CHB][hapmap] |
rs5986981 | 0.91[CEU][hapmap];1.00[CHB][hapmap] |
rs5987266 | 0.91[CEU][hapmap] |
rs5987267 | 0.91[CEU][hapmap];1.00[CHB][hapmap] |
rs7051615 | 1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap] |
rs7057286 | 1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap] |
rs7879049 | 0.81[CEU][hapmap] |
rs7886727 | 0.91[CEU][hapmap];1.00[CHB][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv33199 | chrX:152864376-153820241 | Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 276 gene(s) | inside rSNPs | diseases |
2 | nsv528291 | chrX:152864376-153827637 | Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 277 gene(s) | inside rSNPs | diseases |
3 | nsv915605 | chrX:153333946-153783638 | Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 204 gene(s) | inside rSNPs | diseases |
4 | nsv519042 | chrX:153348431-153829693 | Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 207 gene(s) | inside rSNPs | diseases |
5 | nsv532962 | chrX:153564946-153870337 | Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 199 gene(s) | inside rSNPs | diseases |
6 | nsv532963 | chrX:153576890-153822717 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 195 gene(s) | inside rSNPs | diseases |
7 | nsv530281 | chrX:153622940-153783184 | Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 153 gene(s) | inside rSNPs | diseases |
8 | nsv532964 | chrX:153622940-153854307 | Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 158 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chrX:153720000-153733400 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
2 | chrX:153720000-153733600 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
3 | chrX:153722000-153734000 | Weak transcription | Pancreas | Pancrea |
4 | chrX:153724000-153727000 | Enhancers | GM12878-XiMat | blood |
5 | chrX:153724200-153733400 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
6 | chrX:153724600-153726400 | Enhancers | K562 | blood |
7 | chrX:153725000-153726400 | Enhancers | Primary neutrophils fromperipheralblood | blood |
8 | chrX:153725200-153727000 | Enhancers | Primary B cells from peripheral blood | blood |