Variant report

Variant	rs72731425
Chromosome Location	chr15:40379363-40379364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40379144-40380015	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr15:40378482-40381953	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40376791..40380091-chr15:40393802..40397569,3	MCF-7	breast:
2	chr15:40377744..40380085-chr15:40392736..40394463,2	K562	blood:
3	chr15:40378501..40381219-chr15:40400626..40403218,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259409	TF binding region
ENSG00000104081	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10518679	1.00[ASN][1000 genomes]
rs41500744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40374200-40381400	Enhancers	Fetal Thymus	thymus
2	chr15:40374200-40388200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:40374800-40379400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:40374800-40380400	Weak transcription	Ovary	ovary
5	chr15:40374800-40380600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:40374800-40382000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr15:40374800-40383800	Weak transcription	Brain Substantia Nigra	brain
8	chr15:40375000-40380800	Weak transcription	NHLF	lung
9	chr15:40375000-40382200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:40375000-40383600	Weak transcription	Brain Anterior Caudate	brain
11	chr15:40375000-40383800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:40375000-40384200	Weak transcription	Brain Angular Gyrus	brain
13	chr15:40375200-40380800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr15:40375200-40381800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:40375400-40380600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:40375800-40380200	Weak transcription	Spleen	Spleen
17	chr15:40375800-40380400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:40376000-40379600	Weak transcription	Fetal Intestine Large	intestine
19	chr15:40376000-40380400	Weak transcription	Lung	lung
20	chr15:40376000-40383600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr15:40376200-40379800	Weak transcription	Left Ventricle	heart
22	chr15:40376200-40380400	Weak transcription	Adipose Nuclei	Adipose
23	chr15:40376200-40381000	Weak transcription	GM12878-XiMat	blood
24	chr15:40376400-40380600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr15:40376400-40381600	Weak transcription	Primary B cells from cord blood	blood
26	chr15:40376600-40380400	Weak transcription	Liver	Liver
27	chr15:40376800-40379800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr15:40376800-40381800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:40377200-40380000	Weak transcription	Fetal Brain Female	brain
30	chr15:40377200-40381800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr15:40377400-40380400	Enhancers	Fetal Stomach	stomach
32	chr15:40377400-40384000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:40377600-40379400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr15:40377600-40380200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr15:40377600-40380200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr15:40377600-40380400	Weak transcription	Thymus	Thymus
37	chr15:40377600-40381600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr15:40377800-40379400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr15:40377800-40380200	Weak transcription	Gastric	stomach
40	chr15:40377800-40380400	Weak transcription	Colonic Mucosa	Colon
41	chr15:40377800-40380400	Weak transcription	NH-A	brain
42	chr15:40377800-40380800	Weak transcription	Osteobl	bone
43	chr15:40377800-40382000	Weak transcription	Primary T cells from cord blood	blood
44	chr15:40378000-40379600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:40378000-40380400	Weak transcription	Hela-S3	cervix
46	chr15:40378000-40380600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:40378000-40380600	Weak transcription	Stomach Mucosa	stomach
48	chr15:40378000-40380600	Weak transcription	K562	blood
49	chr15:40378400-40382200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:40378600-40379600	Enhancers	Psoas Muscle	Psoas

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