Variant report

Variant	rs12598887
Chromosome Location	chr16:47004809-47004810
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats 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	54 gene(s)	inside rSNPs	diseases
4	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46977600-47006200	Weak transcription	Stomach Mucosa	stomach
2	chr16:46988000-47005400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:46988000-47005400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:46988000-47005600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:46988000-47005800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr16:46988200-47005400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:46988400-47005200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:46988400-47005800	Strong transcription	Fetal Muscle Leg	muscle
9	chr16:46988400-47006000	Strong transcription	Placenta	Placenta
10	chr16:46988600-47005200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:46988600-47005200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr16:46988600-47005400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:46988600-47005800	Strong transcription	Fetal Intestine Large	intestine
14	chr16:46990000-47005800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr16:46990600-47005800	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr16:46994000-47005200	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr16:46994200-47005400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr16:46994200-47005800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr16:46994400-47005200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr16:46995200-47005000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr16:46995200-47005200	Strong transcription	NHEK	skin
22	chr16:46995400-47005200	Strong transcription	Fetal Lung	lung
23	chr16:46995400-47005800	Strong transcription	HSMM	muscle
24	chr16:46995800-47005400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
25	chr16:46996000-47006000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:46996200-47005800	Strong transcription	Fetal Stomach	stomach
27	chr16:46996400-47006000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:46996600-47005600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr16:46996600-47006000	Weak transcription	Right Atrium	heart
30	chr16:46996800-47005200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr16:46996800-47005200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:46996800-47005400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr16:46996800-47005800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr16:46997000-47005400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr16:46997000-47005600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:46997200-47005600	Strong transcription	Osteobl	bone
37	chr16:46997400-47005400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:46997400-47005400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr16:46997600-47005600	Strong transcription	K562	blood
40	chr16:47000200-47006200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:47000400-47005400	Strong transcription	HSMMtube	muscle
42	chr16:47002000-47005400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr16:47002200-47006000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
44	chr16:47002200-47006200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:47002600-47005400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr16:47002600-47005800	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr16:47002600-47006000	Weak transcription	NH-A	brain
48	chr16:47002800-47005600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr16:47002800-47005800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr16:47002800-47006000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland

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