Variant report

Variant	rs1015543
Chromosome Location	chr16:47431073-47431074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1200995	1.00[JPT][hapmap]
rs12931879	1.00[JPT][hapmap]
rs174642	1.00[JPT][hapmap]
rs3809676	1.00[JPT][hapmap]

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	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active 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	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1060396	chr16:47264261-47469345	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv428656	chr16:47316866-47469918	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv533068	chr16:47354593-47559639	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv833217	chr16:47358148-47527655	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	esv1822041	chr16:47399460-47569732	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
14	nsv572537	chr16:47411203-47599502	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47379600-47432000	Weak transcription	Fetal Lung	lung
2	chr16:47388600-47445000	Weak transcription	NHEK	skin
3	chr16:47393000-47458200	Weak transcription	Pancreas	Pancrea
4	chr16:47393000-47459000	Weak transcription	NHDF-Ad	bronchial
5	chr16:47397800-47458800	Weak transcription	Colonic Mucosa	Colon
6	chr16:47404000-47432600	Weak transcription	Fetal Kidney	kidney
7	chr16:47404400-47458800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:47404800-47444400	Weak transcription	Lung	lung
9	chr16:47404800-47444800	Weak transcription	Fetal Intestine Small	intestine
10	chr16:47404800-47458600	Weak transcription	Aorta	Aorta
11	chr16:47405600-47458200	Weak transcription	Brain Anterior Caudate	brain
12	chr16:47405800-47454000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr16:47409000-47450800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:47409600-47442400	Weak transcription	Hela-S3	cervix
15	chr16:47409600-47458600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:47409600-47458600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:47409800-47454000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr16:47409800-47454000	Weak transcription	HSMM	muscle
19	chr16:47410000-47458400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr16:47414600-47433800	Weak transcription	Esophagus	oesophagus
21	chr16:47415000-47444400	Weak transcription	Fetal Stomach	stomach
22	chr16:47415600-47432600	Weak transcription	Brain Hippocampus Middle	brain
23	chr16:47417800-47447000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr16:47419200-47444600	Weak transcription	Spleen	Spleen
25	chr16:47420600-47434200	Weak transcription	Left Ventricle	heart
26	chr16:47421400-47431600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr16:47421800-47450600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:47424600-47458400	Weak transcription	Brain Angular Gyrus	brain
29	chr16:47426400-47434200	Weak transcription	Ovary	ovary
30	chr16:47426400-47444600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:47426400-47444800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr16:47426400-47458600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:47426400-47482800	Weak transcription	NH-A	brain
34	chr16:47426600-47433200	Weak transcription	HMEC	breast
35	chr16:47426600-47444400	Weak transcription	Thymus	Thymus
36	chr16:47426600-47444600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr16:47426600-47445000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr16:47426600-47447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr16:47426600-47454200	Weak transcription	GM12878-XiMat	blood
40	chr16:47426600-47458600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:47426600-47459000	Weak transcription	Osteobl	bone
42	chr16:47427000-47445000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr16:47427000-47445200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:47427200-47444800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:47427200-47445200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr16:47427200-47445200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr16:47427200-47458600	Weak transcription	Gastric	stomach
48	chr16:47428600-47458200	Weak transcription	Brain Substantia Nigra	brain
49	chr16:47428600-47458600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:47428800-47432000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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