Variant report

Variant	rs66501706
Chromosome Location	chr15:31629058-31629059
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	ESR1	chr15:31628767-31629126	ECC-1	luminal epithelium:	n/a	n/a
2	ESR1	chr15:31628686-31629223	ECC-1	luminal epithelium:	n/a	n/a
3	FOXA2	chr15:31628836-31629060	HepG2	liver:	n/a	n/a
4	ESR1	chr15:31628836-31629155	ECC-1	luminal epithelium:	n/a	n/a
5	ESR1	chr15:31628756-31629131	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr15:31628920-31629604	GM12878	blood:	n/a	n/a
7	RXRA	chr15:31628838-31629113	HepG2	liver:	n/a	chr15:31628944-31628958

No.	Distal block	Cell Line	Cell type
1	chr15:31623211..31625862-chr15:31627016..31631402,5	K562	blood:
2	chr15:31627397..31629658-chr15:31630745..31632806,2	K562	blood:
3	chr15:31627136..31629946-chr15:31655058..31657615,2	K562	blood:

Variant related genes	Relation type
KLF13	TF binding region
ENSG00000169926	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12437749	0.88[ASN][1000 genomes]
rs12439239	0.88[ASN][1000 genomes]
rs12439853	0.88[ASN][1000 genomes]
rs16956707	0.88[ASN][1000 genomes]
rs72722829	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv903838	chr15:31452911-31672128	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv1815415	chr15:31483843-31697213	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv456747	chr15:31537496-31637996	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv568772	chr15:31537496-31637996	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv1839818	chr15:31594828-31637996	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1050482	chr15:31601016-31672921	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv1048082	chr15:31610245-31667000	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv1045944	chr15:31610245-31672921	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
15	nsv516681	chr15:31616674-31675453	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv903841	chr15:31616674-31697242	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
17	nsv903842	chr15:31621321-31697242	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
18	nsv456748	chr15:31621321-31697642	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
19	nsv568801	chr15:31621321-31697642	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
20	nsv1052942	chr15:31624164-31653633	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31620800-31632600	Enhancers	Fetal Heart	heart
2	chr15:31621600-31637200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:31621800-31630600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:31621800-31636000	Enhancers	Small Intestine	intestine
5	chr15:31621800-31637600	Enhancers	Psoas Muscle	Psoas
6	chr15:31622000-31630600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr15:31622000-31634600	Enhancers	Stomach Mucosa	stomach
8	chr15:31622000-31637600	Enhancers	Left Ventricle	heart
9	chr15:31622200-31630200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr15:31622200-31630400	Weak transcription	NH-A	brain
11	chr15:31622200-31630600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:31622200-31633200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:31622400-31631600	Enhancers	Right Ventricle	heart
14	chr15:31622600-31630200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:31622600-31630200	Weak transcription	NHLF	lung
16	chr15:31622600-31630400	Enhancers	Gastric	stomach
17	chr15:31622600-31640200	Enhancers	Pancreas	Pancrea
18	chr15:31622800-31630600	Enhancers	Brain Angular Gyrus	brain
19	chr15:31622800-31657400	Enhancers	Right Atrium	heart
20	chr15:31623000-31630400	Enhancers	Brain Hippocampus Middle	brain
21	chr15:31623000-31630600	Weak transcription	A549	lung
22	chr15:31623400-31629400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr15:31623400-31637200	Enhancers	Liver	Liver
24	chr15:31623600-31629800	Weak transcription	HSMMtube	muscle
25	chr15:31623800-31630000	Weak transcription	HMEC	breast
26	chr15:31623800-31634600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr15:31624000-31630400	Weak transcription	Fetal Intestine Large	intestine
28	chr15:31624400-31630200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr15:31624400-31630800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:31624400-31631000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr15:31624400-31631600	Enhancers	Lung	lung
32	chr15:31624400-31634800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr15:31624400-31635200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr15:31625000-31629200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:31625000-31630200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr15:31625000-31630400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:31625000-31630400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr15:31625200-31630400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:31625200-31630400	Weak transcription	NHDF-Ad	bronchial
40	chr15:31625200-31649000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr15:31625600-31629400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr15:31626000-31638400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr15:31626200-31630600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr15:31626200-31633600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr15:31626400-31629600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr15:31626400-31630600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr15:31626400-31631800	Enhancers	Esophagus	oesophagus
48	chr15:31626400-31638400	Enhancers	Fetal Muscle Trunk	muscle
49	chr15:31626600-31629200	Enhancers	Primary T cells from cord blood	blood
50	chr15:31626600-31630400	Genic enhancers	Thymus	Thymus

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