Variant report

Variant	rs12592739
Chromosome Location	chr15:44642535-44642536
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	CTCF	chr15:44642480-44642630	AG04450	lung:	n/a	n/a
2	CTCF	chr15:44642485-44642560	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr15:44642490-44642564	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr15:44642480-44642630	HA-sp	spinal cord:	n/a	n/a
5	CTCF	chr15:44642480-44642630	HMF	breast:	n/a	n/a
6	CTCF	chr15:44642420-44642570	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44641156..44643504-chr15:44646406..44648886,2	K562	blood:

Variant related genes	Relation type
ENSG00000250130	TF binding region
ENSG00000250130	Chromatin interaction

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

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

rs_ID	r²[population]
rs58500366	1.00[AFR][1000 genomes];1.00[EUR][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	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1044686	chr15:44489534-44697482	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1043822	chr15:44491220-44686957	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1035386	chr15:44498905-44677174	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv569299	chr15:44598642-44776075	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv904178	chr15:44609796-44724287	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv569300	chr15:44609796-44763598	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44582800-44672200	Weak transcription	HSMM	muscle
2	chr15:44598600-44646800	Weak transcription	Right Ventricle	heart
3	chr15:44618000-44642600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr15:44618000-44642800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:44618000-44643200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr15:44624200-44642600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:44628000-44646800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:44629000-44643800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:44629400-44642600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:44633000-44642800	Weak transcription	NHDF-Ad	bronchial
11	chr15:44633200-44647000	Weak transcription	NHEK	skin
12	chr15:44633200-44647200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:44633200-44653200	Weak transcription	NH-A	brain
14	chr15:44634600-44648200	Weak transcription	Small Intestine	intestine
15	chr15:44637600-44642600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:44637600-44647200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr15:44639000-44643000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:44639400-44643000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr15:44639800-44643000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:44640400-44646400	Weak transcription	Pancreas	Pancrea
21	chr15:44640600-44646800	Weak transcription	NHLF	lung
22	chr15:44640800-44646400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr15:44640800-44646800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:44640800-44646800	Weak transcription	HSMMtube	muscle
25	chr15:44640800-44672000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:44641000-44642600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:44641000-44642600	Weak transcription	GM12878-XiMat	blood
28	chr15:44641000-44642800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr15:44641000-44642800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr15:44641000-44642800	Weak transcription	Fetal Brain Male	brain
31	chr15:44641000-44642800	Weak transcription	Placenta	Placenta
32	chr15:44641000-44642800	Weak transcription	Fetal Thymus	thymus
33	chr15:44641000-44643000	Weak transcription	Colon Smooth Muscle	Colon
34	chr15:44641000-44643200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:44641000-44643200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr15:44641000-44643400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr15:44641000-44644200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:44641000-44645400	Weak transcription	Fetal Kidney	kidney
39	chr15:44641000-44646800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:44641000-44646800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:44641000-44646800	Weak transcription	Esophagus	oesophagus
42	chr15:44641000-44646800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr15:44641000-44646800	Weak transcription	Thymus	Thymus
44	chr15:44641000-44646800	Weak transcription	Dnd41	blood
45	chr15:44641000-44646800	Weak transcription	Osteobl	bone
46	chr15:44641000-44647000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr15:44641000-44647200	Weak transcription	Gastric	stomach
48	chr15:44641000-44647200	Weak transcription	Hela-S3	cervix
49	chr15:44641000-44648600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:44641000-44648600	Weak transcription	A549	lung

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