Variant report

Variant	rs476923
Chromosome Location	chr11:72915398-72915399
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72904843..72907504-chr11:72914729..72918544,3	K562	blood:
2	chr11:72909638..72911879-chr11:72913633..72917276,4	K562	blood:
3	chr11:72915299..72917436-chr11:72918454..72921280,3	K562	blood:
4	chr11:72913548..72915421-chr11:72998391..73001301,2	MCF-7	breast:
5	chr11:72913848..72916454-chr11:72918581..72921158,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171631	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs503113	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs558202	0.92[EUR][1000 genomes]
rs565889	0.99[EUR][1000 genomes]
rs580840	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72968141	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72896200-72916600	Enhancers	Placenta	Placenta
2	chr11:72900600-72918000	Enhancers	Fetal Intestine Large	intestine
3	chr11:72906800-72916400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:72909400-72919800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:72910200-72917200	Weak transcription	Hela-S3	cervix
6	chr11:72910200-72917800	Weak transcription	HMEC	breast
7	chr11:72910200-72925000	Weak transcription	Left Ventricle	heart
8	chr11:72910800-72915400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:72911200-72915400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr11:72911200-72915600	Weak transcription	A549	lung
11	chr11:72911200-72917400	Enhancers	Fetal Intestine Small	intestine
12	chr11:72911800-72916600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:72911800-72917600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:72913000-72915600	Weak transcription	Brain Substantia Nigra	brain
15	chr11:72913000-72915600	Weak transcription	Right Atrium	heart
16	chr11:72913000-72928200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:72913200-72916000	Weak transcription	Adipose Nuclei	Adipose
18	chr11:72913200-72916000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:72913200-72924600	Weak transcription	Right Ventricle	heart
20	chr11:72913400-72916400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:72913400-72917600	Weak transcription	NHEK	skin
22	chr11:72913600-72917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:72914400-72915600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:72914400-72918400	Enhancers	Primary B cells from cord blood	blood
25	chr11:72914600-72917200	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:72914600-72917200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:72915000-72915400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:72915000-72915400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr11:72915000-72916600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:72915000-72916600	Enhancers	Psoas Muscle	Psoas
31	chr11:72915000-72916800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:72915200-72915400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr11:72915200-72916200	Weak transcription	Liver	Liver

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