Variant report

Variant	rs57531448
Chromosome Location	chr15:50348917-50348918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50342963..50345133-chr15:50348674..50350890,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28579120	0.92[ASN][1000 genomes]
rs6493396	0.92[ASN][1000 genomes]
rs6493397	0.81[ASN][1000 genomes]
rs7167956	0.92[ASN][1000 genomes]
rs7178403	0.92[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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904207	chr15:50290295-50352945	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv569395	chr15:50345393-50437494	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50343000-50351200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr15:50343400-50352000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:50343400-50352400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:50344200-50356600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr15:50344600-50349800	Weak transcription	Brain Angular Gyrus	brain
6	chr15:50344600-50349800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:50344600-50351400	Weak transcription	Small Intestine	intestine
8	chr15:50344800-50350000	Weak transcription	A549	lung
9	chr15:50345800-50350200	Weak transcription	Hela-S3	cervix
10	chr15:50345800-50350400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr15:50347000-50351800	Enhancers	Primary hematopoietic stem cells	blood
12	chr15:50347600-50351000	Enhancers	Adipose Nuclei	Adipose
13	chr15:50347600-50351800	Enhancers	NHDF-Ad	bronchial
14	chr15:50347800-50349600	Weak transcription	Fetal Stomach	stomach
15	chr15:50347800-50350200	Weak transcription	Brain Anterior Caudate	brain
16	chr15:50348200-50349600	Weak transcription	Brain Substantia Nigra	brain
17	chr15:50348200-50349600	Weak transcription	Colon Smooth Muscle	Colon
18	chr15:50348200-50349800	Weak transcription	Fetal Lung	lung
19	chr15:50348200-50359800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:50348400-50349600	Weak transcription	Fetal Muscle Leg	muscle
21	chr15:50348400-50349600	Weak transcription	Right Atrium	heart
22	chr15:50348400-50349800	Weak transcription	Aorta	Aorta
23	chr15:50348400-50349800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr15:50348400-50350000	Weak transcription	Ovary	ovary
25	chr15:50348400-50350200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr15:50348400-50350400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:50348400-50350800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr15:50348400-50352000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:50348600-50349400	Enhancers	Osteobl	bone
30	chr15:50348600-50349800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:50348600-50349800	Weak transcription	Brain Hippocampus Middle	brain
32	chr15:50348600-50349800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:50348600-50350000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:50348600-50350000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:50348600-50350400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr15:50348600-50358600	Weak transcription	Fetal Intestine Large	intestine
37	chr15:50348800-50349400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:50348800-50349400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:50348800-50349600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:50348800-50350200	Weak transcription	NHLF	lung
41	chr15:50348800-50350400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr15:50348800-50351800	Enhancers	Monocytes-CD14+_RO01746	blood

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