Variant report

Variant	rs1054259
Chromosome Location	chr15:72072497-72072498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72072491..72073409-chr15:72093417..72094287,4	MCF-7	breast:
2	chr15:72072426..72073273-chr15:72448126..72448905,3	MCF-7	breast:
3	chr15:72044656..72045647-chr15:72072459..72073265,3	MCF-7	breast:
4	chr15:72061256..72063166-chr15:72071067..72072827,2	MCF-7	breast:
5	chr15:72070830..72072579-chr15:72079697..72081419,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10468050	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1109744	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34679273	0.83[ASN][1000 genomes]
rs35171275	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7180325	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8035263	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904334	chr15:71737376-72177659	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer 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	11 gene(s)	inside rSNPs	diseases
3	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72030400-72075800	Weak transcription	Right Ventricle	heart
2	chr15:72045600-72073000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:72053000-72073000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr15:72054600-72075000	Weak transcription	Stomach Mucosa	stomach
5	chr15:72054800-72081400	Weak transcription	HMEC	breast
6	chr15:72055000-72072600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:72057800-72077200	Weak transcription	Gastric	stomach
8	chr15:72058000-72072600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:72058000-72075200	Weak transcription	Aorta	Aorta
10	chr15:72058200-72075800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr15:72064200-72072600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:72064400-72082000	Weak transcription	Pancreas	Pancrea
13	chr15:72064600-72072800	Weak transcription	Placenta	Placenta
14	chr15:72064600-72080800	Weak transcription	Fetal Intestine Large	intestine
15	chr15:72064600-72082400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr15:72064600-72082400	Weak transcription	NHEK	skin
17	chr15:72066000-72072800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:72069400-72074000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:72070200-72075200	Weak transcription	Right Atrium	heart
20	chr15:72070200-72082000	Weak transcription	Esophagus	oesophagus
21	chr15:72070200-72082400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:72070400-72075200	Weak transcription	Lung	lung
23	chr15:72070600-72072600	Weak transcription	Liver	Liver
24	chr15:72070800-72072800	Weak transcription	Fetal Muscle Leg	muscle
25	chr15:72070800-72082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:72071000-72074000	Weak transcription	Left Ventricle	heart
27	chr15:72071200-72073800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:72071200-72080800	Weak transcription	Fetal Intestine Small	intestine
29	chr15:72071200-72081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:72071400-72072600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr15:72071400-72072600	Enhancers	GM12878-XiMat	blood
32	chr15:72071600-72072800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:72071600-72074400	Enhancers	HSMM	muscle
34	chr15:72071600-72074600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:72071800-72072600	Enhancers	HUVEC	blood vessel
36	chr15:72071800-72072800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:72071800-72074200	Enhancers	NH-A	brain
38	chr15:72072000-72072800	Enhancers	HSMMtube	muscle
39	chr15:72072000-72073000	Enhancers	NHLF	lung
40	chr15:72072000-72073200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:72072000-72093200	Weak transcription	Fetal Stomach	stomach
42	chr15:72072200-72072600	Weak transcription	Fetal Heart	heart
43	chr15:72072200-72073600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr15:72072200-72074000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:72072200-72074000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:72072400-72072600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:72072400-72072600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:72072400-72072600	Enhancers	Fetal Kidney	kidney
49	chr15:72072400-72072800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:72072400-72072800	Enhancers	HUES6 Cell Line	embryonic stem cell

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