Variant report

Variant	rs17124310
Chromosome Location	chr11:120648874-120648875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17124307	1.00[AFR][1000 genomes]
rs17124315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17124317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17124321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2846101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2846102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56875020	1.00[AFR][1000 genomes]
rs59456852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60946260	1.00[AFR][1000 genomes]
rs73576568	0.93[AFR][1000 genomes]
rs73576588	0.93[AFR][1000 genomes]
rs73578559	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7945234	0.93[AFR][1000 genomes]
rs7946326	0.87[AFR][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120645400-120649400	Weak transcription	HUVEC	blood vessel
2	chr11:120646200-120649600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:120646600-120650800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:120647400-120649000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:120647400-120649000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:120647600-120649000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:120647800-120649000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:120647800-120649600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:120647800-120649600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:120647800-120652200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:120647800-120653400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:120648400-120651200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:120648400-120651400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:120648600-120649200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:120648800-120649000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:120648800-120649800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:120648800-120650000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:120648800-120650000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:120648800-120650200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:120648800-120650600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr11:120648800-120650600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:120648800-120650800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr11:120648800-120650800	Enhancers	H1 Cell Line	embryonic stem cell

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