Variant report

Variant	rs11082523
Chromosome Location	chr18:43923851-43923852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43922751..43924644-chr18:43951049..43953922,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10775481	0.80[CHB][hapmap];0.89[JPT][hapmap]
rs2000707	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2008211	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4890642	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs4890643	0.90[CHB][hapmap]
rs7232125	0.91[CHB][hapmap]
rs8093368	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs920781	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9951141	0.82[ASW][hapmap];1.00[CEU][hapmap];0.85[MKK][hapmap];0.83[EUR][1000 genomes]
rs9958625	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1819321	chr18:43909994-43930972	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1822108	chr18:43909994-43930972	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1796458	chr18:43913732-43923851	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv576811	chr18:43913732-43930972	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1814236	chr18:43913834-43923851	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43916000-43924200	Weak transcription	Fetal Kidney	kidney
2	chr18:43916200-43929000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr18:43918400-43935800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr18:43919000-43935600	Weak transcription	Fetal Heart	heart
5	chr18:43919800-43926800	Enhancers	Spleen	Spleen
6	chr18:43920000-43924400	Weak transcription	Fetal Lung	lung
7	chr18:43920800-43925400	Enhancers	Lung	lung
8	chr18:43921000-43925200	Weak transcription	Fetal Intestine Small	intestine
9	chr18:43921400-43925200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr18:43921800-43924000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr18:43921800-43925800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr18:43922200-43925200	Enhancers	Left Ventricle	heart
13	chr18:43923000-43925600	Strong transcription	Brain Germinal Matrix	brain
14	chr18:43923000-43926600	Enhancers	Fetal Muscle Trunk	muscle
15	chr18:43923000-43928000	Genic enhancers	Fetal Brain Female	brain
16	chr18:43923200-43924000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr18:43923200-43925600	Enhancers	Adipose Nuclei	Adipose
18	chr18:43923200-43925600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr18:43923200-43927200	Enhancers	Fetal Thymus	thymus
20	chr18:43923400-43924000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr18:43923400-43924000	Enhancers	Psoas Muscle	Psoas
22	chr18:43923400-43924400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:43923400-43924600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr18:43923400-43925400	Enhancers	Right Ventricle	heart
25	chr18:43923400-43925600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr18:43923400-43925600	Enhancers	Primary hematopoietic stem cells	blood
27	chr18:43923400-43925600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr18:43923400-43925800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr18:43923400-43926200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr18:43923400-43927000	Enhancers	Primary B cells from cord blood	blood
31	chr18:43923400-43927000	Enhancers	Primary B cells from peripheral blood	blood
32	chr18:43923600-43924000	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:43923600-43924000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:43923600-43924000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr18:43923600-43924000	Enhancers	Brain Anterior Caudate	brain
36	chr18:43923600-43924200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr18:43923600-43924200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr18:43923600-43924200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr18:43923600-43924200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr18:43923600-43924200	Enhancers	Esophagus	oesophagus
41	chr18:43923600-43924200	Enhancers	Right Atrium	heart
42	chr18:43923600-43924200	Enhancers	NHEK	skin
43	chr18:43923600-43924400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr18:43923600-43924600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr18:43923600-43924600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr18:43923600-43924800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr18:43923600-43924800	Enhancers	Duodenum Mucosa	Duodenum
48	chr18:43923600-43924800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr18:43923600-43924800	Bivalent Enhancer	Placenta	Placenta
50	chr18:43923600-43925000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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