Variant report

Variant	rs73546230
Chromosome Location	chr11:72368339-72368340
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72366699..72368649-chr11:72383788..72385898,2	K562	blood:
2	chr11:72352692..72354361-chr11:72368071..72370416,2	K562	blood:
3	chr11:72362926..72365327-chr11:72366143..72368389,2	MCF-7	breast:
4	chr11:72365264..72369111-chr11:72371681..72376604,5	K562	blood:

Variant related genes	Relation type
ENSG00000255808	Chromatin interaction
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1056864	1.00[AMR][1000 genomes]
rs10751207	1.00[AMR][1000 genomes]
rs1299161	1.00[AMR][1000 genomes]
rs366711	1.00[AMR][1000 genomes]
rs371903	1.00[AMR][1000 genomes]
rs379276	1.00[AMR][1000 genomes]
rs379638	1.00[AMR][1000 genomes]
rs390130	1.00[AMR][1000 genomes]
rs392818	1.00[AMR][1000 genomes]
rs408269	1.00[AMR][1000 genomes]
rs414178	1.00[AMR][1000 genomes]
rs424234	1.00[AMR][1000 genomes]
rs452228	1.00[AMR][1000 genomes]
rs55816648	1.00[AMR][1000 genomes]
rs56251316	1.00[AMR][1000 genomes]
rs57512065	1.00[AMR][1000 genomes]
rs577536	1.00[AMR][1000 genomes]
rs58744558	1.00[AMR][1000 genomes]
rs59222962	1.00[AMR][1000 genomes]
rs59414438	1.00[AMR][1000 genomes]
rs61417743	1.00[AMR][1000 genomes]
rs633405	1.00[AMR][1000 genomes]
rs644698	1.00[AMR][1000 genomes]
rs7108477	1.00[AMR][1000 genomes]
rs7110834	1.00[AMR][1000 genomes]
rs73529620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529662	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529668	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529672	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73541179	1.00[AMR][1000 genomes]
rs73541198	1.00[AMR][1000 genomes]
rs73542594	1.00[AMR][1000 genomes]
rs73543236	1.00[AMR][1000 genomes]
rs73543237	1.00[AMR][1000 genomes]
rs73543245	1.00[AMR][1000 genomes]
rs73543251	1.00[AMR][1000 genomes]
rs73544388	1.00[AMR][1000 genomes]
rs73544400	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546206	1.00[AMR][1000 genomes]
rs73546218	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
4	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 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	chr11:72361800-72379400	Weak transcription	Brain Angular Gyrus	brain
2	chr11:72363400-72369400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:72364400-72370400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:72365000-72368600	Weak transcription	Spleen	Spleen
5	chr11:72365200-72379200	Weak transcription	Fetal Brain Female	brain
6	chr11:72366400-72369200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:72366600-72370600	Weak transcription	Brain Anterior Caudate	brain
8	chr11:72367400-72369000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:72367400-72369000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr11:72367600-72369000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:72367600-72369000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:72367600-72369000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:72367800-72368400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:72367800-72371600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:72368000-72368600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:72368000-72368800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:72368000-72369000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:72368000-72369000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:72368000-72369000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:72368000-72369400	Enhancers	Fetal Brain Male	brain
21	chr11:72368000-72370000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:72368200-72368400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:72368200-72368400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:72368200-72368400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:72368200-72368400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr11:72368200-72368600	Enhancers	Fetal Stomach	stomach
27	chr11:72368200-72368800	Enhancers	Brain Germinal Matrix	brain
28	chr11:72368200-72369000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr11:72368200-72379600	Weak transcription	Brain Inferior Temporal Lobe	brain

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