Variant report

Variant	rs59524952
Chromosome Location	chr11:8838436-8838437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8707625..8713219-chr11:8836057..8840145,5	K562	blood:
2	chr11:8708066..8711768-chr11:8837087..8840258,4	MCF-7	breast:
3	chr11:8707625..8711209-chr11:8836057..8839950,3	K562	blood:

Variant related genes	Relation type
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16905815	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56210429	1.00[AMR][1000 genomes]
rs56388022	1.00[AMR][1000 genomes]
rs57145477	1.00[AMR][1000 genomes]
rs57212881	0.82[AFR][1000 genomes]
rs58419940	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59279926	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59314560	1.00[AMR][1000 genomes]
rs59974779	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60980006	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6484494	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053134	0.82[AFR][1000 genomes]
rs74053135	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053138	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053141	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053166	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053169	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053170	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053172	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053175	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053180	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053189	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054210	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054216	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054218	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7944416	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7944777	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945378	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7949286	0.83[AFR][1000 genomes];1.00[AMR][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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv527073	chr11:8829168-8848463	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8832600-8840800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:8833000-8839200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:8833200-8859800	Weak transcription	Aorta	Aorta
4	chr11:8834200-8838600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:8834200-8839000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:8835600-8840000	Weak transcription	Colonic Mucosa	Colon
7	chr11:8835600-8845000	Weak transcription	Psoas Muscle	Psoas
8	chr11:8835600-8848800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:8835800-8840600	Weak transcription	Fetal Stomach	stomach
10	chr11:8836200-8843000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:8836200-8843600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:8836200-8844000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:8836200-8844200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:8836200-8848000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:8836400-8844000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:8836400-8847600	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:8836400-8849800	Weak transcription	Fetal Intestine Small	intestine
18	chr11:8836600-8838800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:8836600-8839800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:8836600-8850400	Weak transcription	Fetal Lung	lung
21	chr11:8836800-8838800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:8836800-8840000	Weak transcription	Ovary	ovary
23	chr11:8836800-8847600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:8836800-8848600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:8837000-8850000	Weak transcription	Lung	lung
26	chr11:8837200-8843800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:8837200-8847000	Weak transcription	HSMMtube	muscle
28	chr11:8837200-8847200	Weak transcription	NHDF-Ad	bronchial
29	chr11:8837200-8847600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:8837200-8847600	Weak transcription	Fetal Kidney	kidney
31	chr11:8837200-8848000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:8837200-8848600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:8837400-8839800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:8837400-8839800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:8837400-8840000	Weak transcription	Placenta	Placenta
36	chr11:8837400-8843200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:8837400-8847000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:8837400-8847200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:8837400-8848000	Weak transcription	NHEK	skin
40	chr11:8837600-8843800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:8837600-8847200	Weak transcription	NHLF	lung
42	chr11:8837800-8838600	Weak transcription	Hela-S3	cervix
43	chr11:8837800-8848400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:8838000-8848400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:8838200-8843800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:8838400-8838800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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