Variant report

Variant	rs9550505
Chromosome Location	chr13:30452114-30452115
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12584646	0.88[CEU][hapmap];0.93[CHB][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17631379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17631397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7318426	0.99[ASN][1000 genomes]
rs9314983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9550501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9550502	0.82[ASN][1000 genomes]
rs9550503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9550504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9550506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9551757	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9551758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9551759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9551760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9551761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9551763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9551764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9551765	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9551766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv275533	chr13:30449638-30452454	Enhancers Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30449600-30452600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr13:30449600-30458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:30450000-30457000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:30450400-30452400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:30451400-30452800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:30451400-30452800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:30451400-30453000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:30451400-30453000	Enhancers	Fetal Intestine Large	intestine
9	chr13:30451400-30453400	Enhancers	Fetal Intestine Small	intestine
10	chr13:30451600-30452200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:30451600-30452600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr13:30451600-30452600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr13:30451600-30452800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr13:30451600-30452800	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr13:30451600-30452800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr13:30451600-30453000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr13:30451600-30453600	Enhancers	Stomach Mucosa	stomach
18	chr13:30451800-30452200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:30451800-30452200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr13:30451800-30452200	Enhancers	Duodenum Mucosa	Duodenum
21	chr13:30451800-30452600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr13:30451800-30452600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:30451800-30452600	Enhancers	HepG2	liver
24	chr13:30451800-30452800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr13:30451800-30453200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr13:30452000-30452200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:30452000-30452200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr13:30452000-30452600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr13:30452000-30452600	Enhancers	Ovary	ovary
30	chr13:30452000-30452800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr13:30452000-30455800	Weak transcription	Brain Hippocampus Middle	brain

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