Variant report

Variant	rs17124305
Chromosome Location	chr11:120646975-120646976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11218005	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1945009	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs58174358	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59076824	0.97[ASN][1000 genomes]
rs7934092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7938295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1038264	chr11:120582595-120799335	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541181	chr11:120582595-120799335	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv832286	chr11:120585843-120745846	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120637200-120647000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:120645400-120649400	Weak transcription	HUVEC	blood vessel
3	chr11:120646200-120649600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:120646400-120647400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:120646400-120647800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr11:120646400-120647800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:120646400-120647800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:120646600-120647400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:120646600-120647600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:120646600-120647600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr11:120646600-120647600	Enhancers	Brain Hippocampus Middle	brain
12	chr11:120646600-120647800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:120646600-120647800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr11:120646600-120647800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:120646600-120647800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr11:120646600-120647800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:120646600-120650800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:120646800-120647000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:120646800-120647400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:120646800-120647400	Enhancers	Brain Substantia Nigra	brain
21	chr11:120646800-120647600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr11:120646800-120647600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr11:120646800-120647600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:120646800-120647600	Enhancers	Brain Cingulate Gyrus	brain
25	chr11:120646800-120647800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr11:120646800-120647800	Enhancers	Brain Anterior Caudate	brain

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