Variant report
Variant | rs7949599 |
---|---|
Chromosome Location | chr11:17599799-17599800 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:61)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:17599798-17599848 | IMR90 | lung: | fetal |
2 | chr11:17599798-17599848 | H1-hESC | embryonic stem cell: | embryo |
3 | chr11:17599798-17599848 | NH-A | brain: | n/a |
4 | chr11:17599798-17599848 | AG04449 | skin: | fetal |
5 | chr11:17599798-17599848 | SAEC | small airway: | n/a |
6 | chr11:17599798-17599848 | HRCEpiC | kidney: | n/a |
7 | chr11:17599798-17599848 | HCF | heart: | n/a |
8 | chr11:17599798-17599848 | HRE | kidney: | n/a |
9 | chr11:17599798-17599848 | Jurkat | blood: | n/a |
10 | chr11:17599798-17599848 | HepG2 | liver: | n/a |
11 | chr11:17599798-17599848 | HEEpiC | esophagus: | n/a |
12 | chr11:17599798-17599848 | PrEC | prostate: | n/a |
13 | chr11:17599798-17599848 | AG10803 | skin: | n/a |
14 | chr11:17599798-17599848 | RPTEC | kidney: | n/a |
15 | chr11:17599798-17599848 | NHDF-neo | bronchial: | n/a |
16 | chr11:17599798-17599848 | AoSMC | blood vessel: | n/a |
17 | chr11:17599798-17599848 | GM12892 | blood: | n/a |
18 | chr11:17599798-17599848 | PANC-1 | pancreas: | n/a |
19 | chr11:17599798-17599848 | SK-N-SH | brain: | n/a |
20 | chr11:17599798-17599848 | CMK | blood: | n/a |
21 | chr11:17599798-17599848 | A549 | lung: | n/a |
22 | chr11:17599798-17599848 | ProgFib | skin: | n/a |
23 | chr11:17599798-17599848 | HNPCEpiC | eye: | n/a |
24 | chr11:17599798-17599848 | U87 | brain: | n/a |
25 | chr11:17599798-17599848 | T-47D | breast: | n/a |
26 | chr11:17599798-17599848 | GM06990 | blood: | n/a |
27 | chr11:17599798-17599848 | MCF10A-Er-Src | breast: | n/a |
28 | chr11:17599798-17599848 | HCT-116 | colon: | n/a |
29 | chr11:17599798-17599848 | MCF-7 | breast: | n/a |
30 | chr11:17599798-17599848 | HIPEpiC | eye: | n/a |
31 | chr11:17599798-17599848 | HUVEC | blood vessel: | n/a |
32 | chr11:17599798-17599848 | AG09319 | gingival: | n/a |
33 | chr11:17599798-17599848 | BE2_C | brain: | n/a |
34 | chr11:17599798-17599848 | ECC-1 | luminal epithelium: | n/a |
35 | chr11:17599798-17599848 | HRPEpiC | eye: | n/a |
36 | chr11:17599798-17599848 | HL-60 | blood: | n/a |
37 | chr11:17599798-17599848 | LNCaP | prostate: | n/a |
38 | chr11:17599798-17599848 | SKMC | muscle: | n/a |
39 | chr11:17599798-17599848 | Hela-S3 | cervix: | n/a |
40 | chr11:17599798-17599848 | HCPEpiC | choroid plexus: | n/a |
41 | chr11:17599798-17599848 | AG09309 | skin: | n/a |
42 | chr11:17599798-17599848 | ovcar-3 | ovarian: | n/a |
43 | chr11:17599798-17599848 | SK-N-MC | brain: | n/a |
44 | chr11:17599798-17599848 | PFSK-1 | brain: | n/a |
45 | chr11:17599798-17599848 | NT2-D1 | testis: | n/a |
46 | chr11:17599798-17599848 | HAEpiC | amniotic membrane: | n/a |
47 | chr11:17599798-17599848 | GM12891 | blood: | n/a |
48 | chr11:17599798-17599848 | AG04450 | lung: | fetal |
49 | chr11:17599798-17599848 | HPAEpiC | pulmonary alveolar: | n/a |
50 | chr11:17599798-17599848 | HCM | heart: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
OTOG | CpG island |
rs_ID | r2[population] |
---|---|
rs1003490 | 1.00[JPT][hapmap] |
rs10741730 | 1.00[JPT][hapmap] |
rs10832807 | 1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
rs11024330 | 1.00[JPT][hapmap] |
rs11024345 | 1.00[JPT][hapmap] |
rs11024348 | 0.82[JPT][hapmap] |
rs11024349 | 1.00[JPT][hapmap] |
rs11024353 | 0.90[EUR][1000 genomes] |
rs11603536 | 1.00[EUR][1000 genomes] |
rs11604368 | 1.00[CEU][hapmap];1.00[EUR][1000 genomes] |
rs11604413 | 1.00[EUR][1000 genomes] |
rs11605447 | 1.00[ASN][1000 genomes] |
rs11606130 | 1.00[CEU][hapmap];0.90[EUR][1000 genomes] |
rs11607051 | 1.00[CEU][hapmap];0.90[EUR][1000 genomes] |
rs11607120 | 1.00[CEU][hapmap];0.90[EUR][1000 genomes] |
rs11608226 | 1.00[CEU][hapmap];0.90[EUR][1000 genomes] |
rs12277962 | 1.00[JPT][hapmap] |
rs12361934 | 1.00[JPT][hapmap] |
rs16934477 | 1.00[CEU][hapmap];0.95[EUR][1000 genomes] |
rs16934481 | 1.00[CEU][hapmap];1.00[EUR][1000 genomes] |
rs16934491 | 1.00[EUR][1000 genomes] |
rs2058003 | 0.82[JPT][hapmap] |
rs55858137 | 0.90[EUR][1000 genomes] |
rs56254591 | 0.90[EUR][1000 genomes] |
rs61743165 | 0.90[EUR][1000 genomes] |
rs7102480 | 1.00[CEU][hapmap];1.00[EUR][1000 genomes] |
rs7110462 | 1.00[JPT][hapmap] |
rs7112338 | 1.00[JPT][hapmap] |
rs7112749 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7117519 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7117645 | 1.00[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs7118411 | 1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes] |
rs7118838 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7127953 | 1.00[CEU][hapmap];0.90[EUR][1000 genomes] |
rs7129066 | 1.00[JPT][hapmap] |
rs740324 | 1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7944460 | 0.86[ASN][1000 genomes] |
rs7948744 | 0.82[JPT][hapmap] |
rs7949484 | 1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes] |
rs7949897 | 0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7950303 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs875695 | 1.00[CEU][hapmap];1.00[EUR][1000 genomes] |
rs875696 | 1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1040065 | chr11:17556031-17753467 | Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
2 | nsv7693 | chr11:17556788-17601771 | Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
3 | nsv1044126 | chr11:17557715-17730646 | Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
4 | nsv540953 | chr11:17557715-17730646 | Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:17596600-17599800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr11:17597800-17601000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
3 | chr11:17597800-17601800 | Weak transcription | H1 Cell Line | embryonic stem cell |
4 | chr11:17597800-17601800 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
5 | chr11:17599600-17599800 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
6 | chr11:17599600-17599800 | Bivalent Enhancer | Adipose Nuclei | Adipose |