Variant report

Variant	rs72995856
Chromosome Location	chr11:120647474-120647475
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]
rs10502242	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11218005	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11218006	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11218007	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11820186	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11822437	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11824814	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17124301	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17124324	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2846104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995842	0.83[EUR][1000 genomes]
rs72995844	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72995858	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7934092	1.00[EUR][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:29 , 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	chr11:120646400-120647800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:120646400-120647800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:120646400-120647800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:120646600-120647600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:120646600-120647600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr11:120646600-120647600	Enhancers	Brain Hippocampus Middle	brain
9	chr11:120646600-120647800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:120646600-120647800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr11:120646600-120647800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:120646600-120647800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr11:120646600-120647800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:120646600-120650800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:120646800-120647600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr11:120646800-120647600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:120646800-120647600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:120646800-120647600	Enhancers	Brain Cingulate Gyrus	brain
19	chr11:120646800-120647800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:120646800-120647800	Enhancers	Brain Anterior Caudate	brain
21	chr11:120647000-120647600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:120647000-120647600	Enhancers	Brain Angular Gyrus	brain
23	chr11:120647000-120647800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:120647000-120647800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:120647000-120648000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:120647000-120648800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:120647200-120648000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:120647400-120649000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:120647400-120649000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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