Variant report

Variant	rs72740194
Chromosome Location	chr15:55490299-55490300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:55487285-55490596	SK-N-SH	brain:	n/a	n/a
2	KAP1	chr15:55490216-55492297	K562	blood:	n/a	n/a
3	HCFC1	chr15:55488000-55490587	Hela-S3	cervix:	n/a	n/a
4	GATA3	chr15:55490114-55490306	SH-SY5Y	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55484699..55490442-chr15:55579270..55584640,8	K562	blood:
2	chr15:55489042..55491644-chr15:55640711..55643190,2	K562	blood:
3	chr15:55489860..55492561-chr15:55500870..55502505,2	K562	blood:
4	chr15:55488451..55490602-chr15:55640573..55642962,2	MCF-7	breast:
5	chr15:55485508..55492313-chr15:55579801..55583590,12	K562	blood:
6	chr15:55490157..55491866-chr15:55610487..55612972,2	MCF-7	breast:
7	chr15:54266407..54270072-chr15:55486535..55491034,4	MCF-7	breast:

No data

Variant related genes	Relation type
RSL24D1	TF binding region
ENSG00000260916	Chromatin interaction
ENSG00000069974	Chromatin interaction
ENSG00000259669	Chromatin interaction
ENSG00000225973	Chromatin interaction
ENSG00000069943	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17238164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55849150	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55485600-55490600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:55487600-55490400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr15:55487800-55490400	Active TSS	K562	blood
4	chr15:55488000-55490400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:55488000-55490600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr15:55489400-55490400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:55489600-55497600	Weak transcription	Gastric	stomach
8	chr15:55489600-55504000	Weak transcription	Spleen	Spleen
9	chr15:55489600-55513200	Weak transcription	Lung	lung
10	chr15:55489800-55490600	Flanking Active TSS	Dnd41	blood
11	chr15:55489800-55499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:55489800-55503400	Weak transcription	Pancreas	Pancrea
13	chr15:55489800-55540200	Weak transcription	Esophagus	oesophagus
14	chr15:55490000-55490400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr15:55490000-55490400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:55490000-55490400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr15:55490000-55490600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr15:55490000-55490600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr15:55490000-55490600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr15:55490000-55490800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:55490000-55491000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr15:55490000-55493800	Weak transcription	Stomach Mucosa	stomach
23	chr15:55490000-55496000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:55490000-55496400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr15:55490000-55496600	Weak transcription	Liver	Liver
26	chr15:55490000-55496800	Weak transcription	Placenta	Placenta
27	chr15:55490000-55497400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:55490000-55497400	Weak transcription	Adipose Nuclei	Adipose
29	chr15:55490000-55497600	Weak transcription	Fetal Stomach	stomach
30	chr15:55490000-55501600	Weak transcription	Left Ventricle	heart
31	chr15:55490000-55502000	Weak transcription	Colonic Mucosa	Colon
32	chr15:55490000-55509600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:55490000-55510000	Weak transcription	NHLF	lung
34	chr15:55490000-55513000	Weak transcription	Fetal Intestine Large	intestine
35	chr15:55490000-55513200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:55490000-55513200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr15:55490000-55513200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:55490000-55517200	Weak transcription	Aorta	Aorta
39	chr15:55490000-55529400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr15:55490000-55562800	Weak transcription	Ovary	ovary
41	chr15:55490200-55490400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr15:55490200-55490400	Enhancers	Primary B cells from cord blood	blood
43	chr15:55490200-55490400	Enhancers	Primary T cells from cord blood	blood
44	chr15:55490200-55490400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr15:55490200-55490400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:55490200-55490400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:55490200-55490400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:55490200-55490400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:55490200-55490400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr15:55490200-55490600	Enhancers	Primary T helper cells fromperipheralblood	blood

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