Variant report

Variant	rs58800112
Chromosome Location	chr11:66653342-66653343
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66650776..66653492-chr11:66654668..66657243,4	K562	blood:
2	chr11:66609335..66612461-chr11:66650852..66654865,3	MCF-7	breast:
3	chr11:66648338..66650019-chr11:66652865..66655285,2	K562	blood:
4	chr11:66651148..66654052-chr11:66754978..66757094,2	K562	blood:
5	chr11:66652395..66655617-chr11:66668834..66672055,3	K562	blood:
6	chr11:66652570..66655169-chr11:66658075..66659749,2	MCF-7	breast:
7	chr11:66650937..66653483-chr11:66658132..66659731,2	K562	blood:
8	chr11:66643151..66645572-chr11:66652641..66654226,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173653	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11828542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147932	1.00[ASN][1000 genomes]
rs2380757	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2380758	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802743	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4397861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500496	1.00[ASN][1000 genomes]
rs56803995	1.00[ASN][1000 genomes]
rs57240313	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57410747	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57466874	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59538303	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59550560	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59932755	1.00[ASN][1000 genomes]
rs60651024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61634527	1.00[ASN][1000 genomes]
rs7952232	1.00[ASN][1000 genomes]
rs896437	0.91[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	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66639000-66657200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:66639200-66657400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:66639400-66659800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:66646000-66660800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:66647600-66653400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:66648600-66653400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:66648600-66653800	Weak transcription	Left Ventricle	heart
8	chr11:66648600-66657600	Weak transcription	GM12878-XiMat	blood
9	chr11:66649000-66654200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:66649200-66655200	Weak transcription	Right Atrium	heart
11	chr11:66650800-66653400	Enhancers	HepG2	liver
12	chr11:66650800-66653800	Weak transcription	Psoas Muscle	Psoas
13	chr11:66650800-66654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:66651000-66653400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:66651000-66657200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:66651000-66659600	Weak transcription	Lung	lung
17	chr11:66651000-66664000	Weak transcription	Right Ventricle	heart
18	chr11:66651200-66653400	Weak transcription	Brain Anterior Caudate	brain
19	chr11:66651200-66653400	Weak transcription	Gastric	stomach
20	chr11:66651200-66653800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:66651200-66653800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:66651200-66653800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:66651200-66654200	Weak transcription	NHLF	lung
24	chr11:66651200-66654400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:66651200-66656200	Weak transcription	Fetal Intestine Large	intestine
26	chr11:66651200-66657400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:66651200-66659200	Weak transcription	HMEC	breast
28	chr11:66651200-66659600	Weak transcription	Esophagus	oesophagus
29	chr11:66651200-66665600	Weak transcription	Brain Germinal Matrix	brain
30	chr11:66651200-66669800	Weak transcription	Fetal Intestine Small	intestine
31	chr11:66651200-66673200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:66651400-66653400	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:66651400-66653400	Weak transcription	NH-A	brain
34	chr11:66651400-66653400	Weak transcription	Osteobl	bone
35	chr11:66651400-66653800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:66651400-66653800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:66651400-66653800	Weak transcription	HSMM	muscle
38	chr11:66651400-66654000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:66651400-66654000	Enhancers	A549	lung
40	chr11:66651400-66657400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:66651400-66657400	Weak transcription	HSMMtube	muscle
42	chr11:66651400-66657600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:66651400-66659400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:66651400-66678400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:66651600-66653400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:66652200-66653400	Weak transcription	NHEK	skin
47	chr11:66652200-66657400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:66652600-66653400	Weak transcription	Placenta	Placenta
49	chr11:66652600-66654200	Enhancers	Hela-S3	cervix
50	chr11:66652800-66654600	Enhancers	Brain Hippocampus Middle	brain

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