Variant report

Variant	rs16957284
Chromosome Location	chr15:43247567-43247568
allele	C/T
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	TCF12	chr15:43247521-43248158	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr15:43247356-43248256	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr15:43247544-43248143	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr15:43247489-43248168	SK-N-SH	brain:	n/a	n/a
5	EP300	chr15:43247530-43248098	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43246670..43249589-chr15:43250577..43252629,2	K562	blood:

Variant related genes	Relation type
UBR1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58483557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7178732	1.00[ASW][hapmap]
rs74009236	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050128	chr15:43056145-43262736	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542368	chr15:43056145-43262736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv904134	chr15:43097652-43357406	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv904135	chr15:43143998-43392075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1036512	chr15:43164906-43274531	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv569239	chr15:43201109-43392075	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv1039587	chr15:43204351-43378274	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv1050987	chr15:43237103-43385515	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv542369	chr15:43237103-43385515	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43225800-43247600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr15:43232000-43362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:43234200-43247600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:43234800-43248400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:43235400-43252600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:43236000-43268400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:43237800-43254800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:43239600-43248600	Weak transcription	Fetal Kidney	kidney
9	chr15:43240400-43252000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:43241200-43251000	Strong transcription	Fetal Lung	lung
11	chr15:43241200-43269800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:43241600-43248800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:43241600-43248800	Strong transcription	Fetal Muscle Leg	muscle
14	chr15:43241600-43251800	Strong transcription	Fetal Stomach	stomach
15	chr15:43241600-43258600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr15:43241600-43258800	Strong transcription	Placenta	Placenta
17	chr15:43241600-43259200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr15:43241600-43259800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr15:43241600-43261800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:43241600-43271000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:43241600-43271800	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr15:43241800-43248800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:43241800-43250000	Strong transcription	Fetal Thymus	thymus
24	chr15:43241800-43251000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr15:43241800-43254000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr15:43241800-43254400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr15:43241800-43257600	Strong transcription	Fetal Brain Female	brain
28	chr15:43241800-43258800	Strong transcription	Adipose Nuclei	Adipose
29	chr15:43241800-43258800	Strong transcription	Fetal Intestine Large	intestine
30	chr15:43241800-43259400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr15:43241800-43270800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr15:43242000-43254800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr15:43242000-43258800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr15:43242200-43248800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:43242200-43248800	Strong transcription	HSMM	muscle
36	chr15:43242200-43250600	Strong transcription	Brain Hippocampus Middle	brain
37	chr15:43242200-43253000	Strong transcription	Brain Anterior Caudate	brain
38	chr15:43242200-43253400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr15:43242200-43258600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr15:43242200-43258800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr15:43242200-43258800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr15:43242200-43259000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr15:43242200-43259400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:43242200-43270800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr15:43242400-43248800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr15:43242400-43259000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr15:43242600-43247800	Weak transcription	Brain Angular Gyrus	brain
48	chr15:43242800-43262600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:43243000-43248800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:43243000-43248800	Weak transcription	Esophagus	oesophagus

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