Variant report

Variant	rs8091049
Chromosome Location	chr18:12877777-12877778
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	chr18:12875735..12879004-chr18:12882434..12885829,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175354	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16939922	0.90[AMR][1000 genomes]
rs57491167	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7232191	0.90[AMR][1000 genomes]
rs73404475	0.80[AMR][1000 genomes]
rs8084146	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8084203	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8085013	0.90[AFR][1000 genomes];0.90[AMR][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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
6	nsv909407	chr18:12877060-12917703	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12838800-12879000	Weak transcription	Psoas Muscle	Psoas
2	chr18:12844200-12879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr18:12857800-12881600	Weak transcription	Fetal Stomach	stomach
4	chr18:12863000-12879000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:12863000-12879200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:12863200-12879000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr18:12863200-12879800	Weak transcription	Hela-S3	cervix
8	chr18:12863200-12880200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:12863400-12879200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr18:12863400-12879800	Weak transcription	NHEK	skin
11	chr18:12863400-12881400	Weak transcription	Right Atrium	heart
12	chr18:12863600-12880000	Weak transcription	Esophagus	oesophagus
13	chr18:12863600-12882000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:12863800-12878600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr18:12863800-12880000	Weak transcription	Small Intestine	intestine
16	chr18:12863800-12880200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:12864400-12880000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:12864800-12878600	Weak transcription	Lung	lung
19	chr18:12865000-12881800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:12865200-12879800	Weak transcription	Fetal Lung	lung
21	chr18:12865800-12879200	Weak transcription	Pancreas	Pancrea
22	chr18:12865800-12883000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:12868600-12879000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr18:12869000-12879400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr18:12872400-12881600	Weak transcription	Ovary	ovary
26	chr18:12873400-12879800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr18:12874200-12879600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr18:12874400-12880200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:12874600-12879200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr18:12875200-12877800	Enhancers	K562	blood
31	chr18:12875600-12882800	Enhancers	Primary B cells from peripheral blood	blood
32	chr18:12875800-12879000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:12875800-12879800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr18:12875800-12879800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr18:12875800-12879800	Weak transcription	Brain Angular Gyrus	brain
36	chr18:12875800-12882000	Weak transcription	HSMM	muscle
37	chr18:12876000-12878000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr18:12876000-12878800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr18:12876000-12879000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr18:12876000-12879200	Weak transcription	Liver	Liver
41	chr18:12876000-12879600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr18:12876000-12882000	Weak transcription	Fetal Intestine Large	intestine
43	chr18:12876200-12877800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr18:12876200-12878600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr18:12876200-12878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr18:12876200-12879000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr18:12876200-12879800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:12876200-12880000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr18:12876400-12879200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr18:12876400-12881200	Weak transcription	Fetal Muscle Leg	muscle

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