Variant report

Variant	rs12050497
Chromosome Location	chr15:41205853-41205854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41197734..41201998-chr15:41203561..41207172,6	K562	blood:
2	chr15:41195189..41208751-chr15:41218816..41225232,20	MCF-7	breast:
3	chr15:41197444..41200500-chr15:41205314..41208941,3	MCF-7	breast:
4	chr15:41204562..41209137-chr15:41220021..41226170,6	K562	blood:
5	chr15:41197749..41200811-chr15:41204877..41207703,3	K562	blood:

Variant related genes	Relation type
ENSG00000128917	Chromatin interaction
ENSG00000251161	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17659152	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17715742	0.94[EUR][1000 genomes]
rs57026082	0.81[ASN][1000 genomes]
rs6492970	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	esv1819792	chr15:41184722-41234825	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	esv3373227	chr15:41204260-41208558	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 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	chr15:41199400-41206400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:41199800-41210000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr15:41200000-41209400	Weak transcription	Fetal Brain Female	brain
4	chr15:41200200-41209800	Weak transcription	Right Ventricle	heart
5	chr15:41200400-41206600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr15:41200600-41206800	Weak transcription	Brain Germinal Matrix	brain
7	chr15:41202200-41208000	Weak transcription	Pancreas	Pancrea
8	chr15:41202400-41210000	Weak transcription	Left Ventricle	heart
9	chr15:41202600-41207000	Weak transcription	Right Atrium	heart
10	chr15:41203400-41207800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr15:41203600-41206200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:41203600-41207800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:41203600-41214400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr15:41203800-41206200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:41203800-41206200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:41203800-41206200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:41203800-41206200	Weak transcription	Adipose Nuclei	Adipose
18	chr15:41203800-41206200	Weak transcription	HUVEC	blood vessel
19	chr15:41203800-41207000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr15:41203800-41207000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr15:41203800-41207200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:41203800-41209800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:41204000-41206200	Weak transcription	Fetal Lung	lung
24	chr15:41204200-41206200	Weak transcription	Fetal Kidney	kidney
25	chr15:41204200-41206400	Weak transcription	Esophagus	oesophagus
26	chr15:41204200-41207600	Weak transcription	Fetal Intestine Small	intestine
27	chr15:41204600-41210400	Weak transcription	Gastric	stomach
28	chr15:41204800-41207000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:41204800-41207000	Weak transcription	Fetal Stomach	stomach
30	chr15:41204800-41207600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:41205000-41206000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:41205000-41206200	Weak transcription	Spleen	Spleen
33	chr15:41205000-41207800	Weak transcription	Fetal Intestine Large	intestine
34	chr15:41205200-41206200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr15:41205200-41206400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr15:41205200-41206800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr15:41205200-41207000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:41205400-41206200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:41205400-41207200	Weak transcription	Fetal Thymus	thymus
40	chr15:41205400-41207400	Weak transcription	Placenta	Placenta
41	chr15:41205600-41206000	Weak transcription	Lung	lung
42	chr15:41205800-41209000	Enhancers	Fetal Muscle Leg	muscle

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