Variant report

Variant	rs275733
Chromosome Location	chr15:40196107-40196108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40191843..40193897-chr15:40194098..40196668,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs169329	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs172105	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs183914	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs275725	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs275732	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28495043	0.82[EUR][1000 genomes]
rs381732	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs404258	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs407282	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs491215	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs570518	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40180200-40197000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr15:40180800-40197200	Weak transcription	Pancreas	Pancrea
3	chr15:40181600-40196600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:40181600-40196800	Weak transcription	NHEK	skin
5	chr15:40184000-40199600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:40189000-40196600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:40189200-40196400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr15:40189200-40198600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr15:40189400-40196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:40189600-40200200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:40190000-40196400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr15:40190200-40199200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:40190200-40201200	Weak transcription	Aorta	Aorta
14	chr15:40190400-40199000	Weak transcription	HUVEC	blood vessel
15	chr15:40190800-40199800	Weak transcription	HSMMtube	muscle
16	chr15:40191000-40199400	Weak transcription	NH-A	brain
17	chr15:40191600-40196600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:40191600-40196600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:40191600-40196800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:40191800-40196400	Weak transcription	NHDF-Ad	bronchial
21	chr15:40192800-40196400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr15:40193200-40199600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:40193400-40196600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:40194000-40196800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:40194200-40196200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr15:40194600-40211000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:40194800-40196600	Weak transcription	NHLF	lung
28	chr15:40194800-40198600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:40195000-40196600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:40195200-40197200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:40195400-40196400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr15:40195600-40196800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr15:40195800-40199200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:40195800-40199600	Weak transcription	HSMM	muscle
35	chr15:40196000-40196200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr15:40196000-40196400	Weak transcription	Osteobl	bone
37	chr15:40196000-40198000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr15:40196000-40198400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr15:40196000-40200200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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