Variant report

Variant	rs2104483
Chromosome Location	chr10:92078697-92078698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11186122	1.00[ASN][1000 genomes]
rs12774854	0.90[ASN][1000 genomes]
rs7074051	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895883	chr10:91610601-92195828	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1039731	chr10:91645718-92198264	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv540743	chr10:91645718-92198264	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv467430	chr10:91681344-92297943	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv551875	chr10:91681344-92297943	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3375393	chr10:91880933-92243227	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2422237	chr10:91940542-92547558	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1037720	chr10:92063438-92259359	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2104483	KIF20B	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92073800-92078800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:92074200-92079000	Weak transcription	NHDF-Ad	bronchial
3	chr10:92074400-92078800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:92076400-92078800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:92076800-92080000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:92076800-92080600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr10:92076800-92081000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr10:92077000-92078800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr10:92077000-92080600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr10:92077200-92079200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr10:92077200-92080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:92077600-92078800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:92077600-92079000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr10:92077800-92079000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr10:92077800-92079400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr10:92077800-92081200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr10:92078000-92080200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr10:92078000-92080200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:92078200-92079000	Enhancers	NHEK	skin
20	chr10:92078200-92079600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:92078400-92079000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr10:92078400-92079200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:92078400-92079400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:92078400-92079600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:92078400-92079600	Enhancers	NHLF	lung
26	chr10:92078400-92079800	Enhancers	HUVEC	blood vessel
27	chr10:92078400-92080200	Enhancers	HMEC	breast
28	chr10:92078400-92080400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr10:92078400-92081200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:92078600-92079000	Bivalent Enhancer	Hela-S3	cervix
31	chr10:92078600-92079200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr10:92078600-92079200	Enhancers	Placenta	Placenta
33	chr10:92078600-92079600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr10:92078600-92079600	Enhancers	HSMM	muscle
35	chr10:92078600-92080200	Enhancers	NH-A	brain

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