Variant report

Variant	rs55644523
Chromosome Location	chr11:45945392-45945393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45867151..45870859-chr11:45942545..45946514,4	K562	blood:
2	chr11:45944749..45946540-chr11:45946715..45948340,2	K562	blood:
3	chr11:45944787..45946706-chr11:45959461..45962306,2	K562	blood:
4	chr11:45868765..45870683-chr11:45944601..45946304,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121671	Chromatin interaction
ENSG00000165905	Chromatin interaction
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10838532	0.82[ASN][1000 genomes]
rs11038708	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1533613	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17847253	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2001591	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35389927	0.83[AFR][1000 genomes]
rs72902474	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72902480	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72902484	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72902492	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking 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 target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers 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 target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1798496	chr11:45925495-45948304	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45941200-45953400	Weak transcription	Dnd41	blood
2	chr11:45943200-45945400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:45943200-45945800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:45943400-45945400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:45943600-45945400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:45943600-45945600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr11:45943800-45945600	Active TSS	NHEK	skin
8	chr11:45944400-45945400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr11:45944400-45945400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:45944800-45945400	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr11:45944800-45945400	Flanking Bivalent TSS/Enh	Placenta	Placenta
12	chr11:45944800-45951800	Weak transcription	Aorta	Aorta
13	chr11:45944800-45955200	Weak transcription	Ovary	ovary
14	chr11:45945000-45945600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:45945000-45945800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr11:45945000-45953200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:45945200-45945400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr11:45945200-45945400	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr11:45945200-45945400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:45945200-45945400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:45945200-45945400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:45945200-45945400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:45945200-45945600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr11:45945200-45945600	Active TSS	Primary B cells from cord blood	blood
25	chr11:45945200-45945800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:45945200-45945800	Bivalent Enhancer	GM12878-XiMat	blood
27	chr11:45945200-45946000	Active TSS	Esophagus	oesophagus
28	chr11:45945200-45946000	Weak transcription	Right Atrium	heart
29	chr11:45945200-45946000	Enhancers	K562	blood
30	chr11:45945200-45946400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr11:45945200-45946400	Enhancers	Pancreas	Pancrea
32	chr11:45945200-45947600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:45945200-45947600	Weak transcription	Lung	lung
34	chr11:45945200-45947800	Weak transcription	Gastric	stomach
35	chr11:45945200-45948600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:45945200-45948600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:45945200-45948600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:45945200-45948600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:45945200-45948800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr11:45945200-45949000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:45945200-45949400	Weak transcription	HMEC	breast
42	chr11:45945200-45950800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:45945200-45951000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:45945200-45952600	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:45945200-45953000	Weak transcription	Brain Anterior Caudate	brain
46	chr11:45945200-45953200	Weak transcription	Liver	Liver
47	chr11:45945200-45954400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:45945200-45955000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:45945200-45955200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:45945200-45969400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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