Variant report

Variant	rs555635648
Chromosome Location	chr16:46949007-46949008
allele	A/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	POLR2A	chr16:46947675-46950153	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:46949000-46950022	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:46949007-46949964	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:46948809-46949319	K562	blood:	n/a	n/a

Variant related genes	Relation type
GPT2	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	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
6	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
7	esv3519767	chr16:46873184-46960035	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv3519768	chr16:46873184-46960035	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1831215	chr16:46907546-46962858	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1799095	chr16:46916670-46972671	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1063660	chr16:46930623-46978792	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv3371590	chr16:46947351-46951849	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3334382	chr16:46947951-46950949	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3443769	chr16:46948051-46951049	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46919000-46963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:46928400-46966000	Strong transcription	Fetal Brain Female	brain
3	chr16:46929000-46949200	Weak transcription	Fetal Brain Male	brain
4	chr16:46929200-46949200	Weak transcription	K562	blood
5	chr16:46929400-46965200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:46930600-46956200	Weak transcription	Fetal Intestine Small	intestine
7	chr16:46930800-46965400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:46930800-46968400	Weak transcription	Right Atrium	heart
9	chr16:46931000-46951200	Strong transcription	Liver	Liver
10	chr16:46931200-46952400	Weak transcription	Ovary	ovary
11	chr16:46931600-46957800	Strong transcription	Fetal Stomach	stomach
12	chr16:46931600-46965200	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr16:46932200-46956200	Weak transcription	Left Ventricle	heart
14	chr16:46932200-46965200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:46932400-46957600	Weak transcription	Psoas Muscle	Psoas
16	chr16:46933600-46949200	Weak transcription	HSMM	muscle
17	chr16:46933600-46959800	Weak transcription	HUVEC	blood vessel
18	chr16:46933600-46965400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:46933800-46965800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr16:46934000-46963400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:46935400-46958200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr16:46936400-46951800	Weak transcription	Spleen	Spleen
23	chr16:46936600-46956000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:46936600-46956200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr16:46938600-46952600	Weak transcription	Stomach Mucosa	stomach
26	chr16:46939600-46964800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:46939800-46949200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:46940000-46964600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:46941200-46949400	Weak transcription	Fetal Heart	heart
30	chr16:46941200-46955000	Enhancers	Primary B cells from peripheral blood	blood
31	chr16:46942400-46952000	Strong transcription	HMEC	breast
32	chr16:46942600-46950600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr16:46942800-46956200	Weak transcription	Colon Smooth Muscle	Colon
34	chr16:46943000-46952200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:46943000-46952400	Strong transcription	Placenta	Placenta
36	chr16:46943000-46952400	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr16:46943200-46965200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr16:46943200-46965400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr16:46943400-46949200	Strong transcription	Esophagus	oesophagus
40	chr16:46943400-46949400	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr16:46943400-46953400	Strong transcription	HSMMtube	muscle
42	chr16:46943400-46953600	Strong transcription	Adipose Nuclei	Adipose
43	chr16:46943400-46954800	Strong transcription	Fetal Muscle Leg	muscle
44	chr16:46943400-46965000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr16:46943400-46965000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr16:46943400-46965200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr16:46943400-46965400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:46943400-46965400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr16:46943400-46965400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr16:46943600-46949200	Strong transcription	HepG2	liver

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