Variant report

Variant	rs2252359
Chromosome Location	chr11:120400149-120400150
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]
rs2252222	0.95[EUR][1000 genomes]
rs2257198	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2257206	0.94[EUR][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1051115	chr11:120376808-120446434	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1036388	chr11:120395104-120427135	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1054301	chr11:120396485-120465800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1053749	chr11:120398643-120417586	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1035499	chr11:120398643-120446434	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1049494	chr11:120400115-120453381	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2252359	BCL9L	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120388800-120403400	Weak transcription	Right Atrium	heart
2	chr11:120398400-120402800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:120398400-120403000	Weak transcription	NH-A	brain
4	chr11:120398600-120402000	Weak transcription	Ovary	ovary
5	chr11:120398600-120402800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:120398600-120403000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:120398600-120403000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:120398600-120403200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:120398600-120403200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:120398600-120403400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:120398600-120403400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:120398600-120417200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:120398800-120402800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:120398800-120408800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:120399000-120402800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:120400000-120402600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:120400000-120404200	Enhancers	Fetal Intestine Large	intestine
18	chr11:120400000-120404400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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