Variant report

Variant	rs4924446
Chromosome Location	chr15:40573716-40573717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40573168..40574775-chr15:40591087..40593590,2	K562	blood:
2	chr15:40572270..40573835-chr15:40597340..40599224,2	MCF-7	breast:
3	chr15:40572393..40574286-chr15:40615089..40617839,2	K562	blood:
4	chr15:40571973..40573796-chr15:40712353..40713860,2	K562	blood:

Variant related genes	Relation type
ENSG00000259307	Chromatin interaction
ENSG00000259330	Chromatin interaction
ENSG00000137841	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34541227	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv904095	chr15:40525430-40591570	Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv471240	chr15:40528155-40595627	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv904096	chr15:40550149-40604777	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv904097	chr15:40555065-40595627	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv517541	chr15:40557268-40595627	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv1850798	chr15:40560607-40622191	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv904098	chr15:40564576-40586537	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv457118	chr15:40565705-40606484	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv569227	chr15:40565705-40606484	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	esv3355014	chr15:40572360-40576658	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40569000-40573800	Weak transcription	Pancreas	Pancrea
2	chr15:40571000-40574600	Enhancers	Fetal Heart	heart
3	chr15:40571600-40574000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr15:40571600-40576800	Bivalent Enhancer	Fetal Brain Male	brain
5	chr15:40572000-40574000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr15:40572000-40574000	Bivalent Enhancer	Fetal Intestine Large	intestine
7	chr15:40572000-40574000	Bivalent Enhancer	Fetal Stomach	stomach
8	chr15:40572000-40574400	Weak transcription	Hela-S3	cervix
9	chr15:40572000-40574400	Weak transcription	K562	blood
10	chr15:40572000-40592800	Weak transcription	Dnd41	blood
11	chr15:40572200-40574000	Weak transcription	Right Atrium	heart
12	chr15:40572400-40573800	Weak transcription	Right Ventricle	heart
13	chr15:40573000-40573800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:40573000-40574400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
15	chr15:40573200-40576400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr15:40573400-40574000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr15:40573400-40574000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr15:40573400-40574200	Bivalent Enhancer	Esophagus	oesophagus
19	chr15:40573400-40574200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
20	chr15:40573400-40576400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr15:40573400-40576400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:40573600-40573800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:40573600-40573800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:40573600-40573800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:40573600-40573800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:40573600-40573800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:40573600-40573800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:40573600-40573800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:40573600-40573800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:40573600-40573800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:40573600-40573800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr15:40573600-40574000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr15:40573600-40574000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr15:40573600-40574000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:40573600-40574000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:40573600-40574000	Bivalent Enhancer	Liver	Liver
37	chr15:40573600-40574200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
38	chr15:40573600-40574200	Enhancers	Gastric	stomach
39	chr15:40573600-40574200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
40	chr15:40573600-40574200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr15:40573600-40574400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
42	chr15:40573600-40574400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
43	chr15:40573600-40574400	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr15:40573600-40574400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
45	chr15:40573600-40574400	Enhancers	Spleen	Spleen
46	chr15:40573600-40574600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr15:40573600-40574600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
48	chr15:40573600-40574800	Bivalent Enhancer	Lung	lung
49	chr15:40573600-40575000	Bivalent Enhancer	Fetal Intestine Small	intestine
50	chr15:40573600-40575000	Bivalent Enhancer	Placenta	Placenta

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