Variant report

Variant	rs549491962
Chromosome Location	chr16:70553276-70553277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70551573..70553695-chr16:70556838..70559540,3	K562	blood:
2	chr16:70553189..70554990-chr16:70583388..70585891,2	MCF-7	breast:
3	chr16:70542244..70550034-chr16:70550058..70558887,15	MCF-7	breast:
4	chr16:70551842..70553695-chr16:70555040..70558338,3	K562	blood:

Variant related genes	Relation type
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS 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	30 gene(s)	inside rSNPs	diseases
3	esv3522631	chr16:70551447-70553838	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2439753	chr16:70552226-70553786	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv2008425	chr16:70552839-70553537	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv8463	chr16:70552845-70553507	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3522627	chr16:70552907-70553429	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3312969	chr16:70552912-70553433	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3522628	chr16:70552916-70553447	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3522632	chr16:70552938-70553362	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3312968	chr16:70552944-70553399	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3312972	chr16:70552950-70553403	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3522634	chr16:70552953-70553381	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv4553	chr16:70552954-70553422	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3312970	chr16:70552958-70553353	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3522633	chr16:70552960-70553386	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3419505	chr16:70552973-70553351	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv3312971	chr16:70552995-70553335	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3522629	chr16:70553008-70553329	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv3312973	chr16:70553010-70553345	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv3522635	chr16:70553010-70553345	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv2425317	chr16:70553014-70553333	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv1193820	chr16:70553024-70553344	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
2	chr16:70512800-70556400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70528000-70553800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:70528800-70556400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:70536600-70554000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:70536800-70554000	Strong transcription	Fetal Stomach	stomach
7	chr16:70537200-70554000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:70537800-70553800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:70537800-70553800	Strong transcription	Liver	Liver
10	chr16:70539600-70553800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr16:70539800-70553800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:70539800-70553800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:70539800-70553800	Strong transcription	Placenta	Placenta
14	chr16:70540200-70553800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr16:70540200-70554000	Strong transcription	Fetal Muscle Trunk	muscle
16	chr16:70541000-70554000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:70541000-70554000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr16:70541000-70554000	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr16:70541000-70554000	Strong transcription	Dnd41	blood
20	chr16:70541200-70556200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:70542400-70553600	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr16:70543000-70556200	Weak transcription	Fetal Heart	heart
23	chr16:70543200-70553600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr16:70545000-70556200	Weak transcription	Small Intestine	intestine
25	chr16:70546200-70556400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr16:70546400-70556400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr16:70546600-70553800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:70546600-70553800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr16:70546600-70556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:70546800-70556400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr16:70547000-70554600	Weak transcription	HMEC	breast
32	chr16:70547800-70553400	Strong transcription	Fetal Intestine Small	intestine
33	chr16:70548400-70554400	Weak transcription	HUVEC	blood vessel
34	chr16:70548600-70553400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr16:70548600-70554600	Weak transcription	NHEK	skin
36	chr16:70548800-70556000	Weak transcription	Psoas Muscle	Psoas
37	chr16:70548800-70556200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr16:70550000-70556200	Weak transcription	Fetal Brain Male	brain
39	chr16:70550200-70554400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:70550400-70556800	Weak transcription	Esophagus	oesophagus
41	chr16:70551200-70555000	Weak transcription	Right Ventricle	heart
42	chr16:70551200-70556800	Weak transcription	Aorta	Aorta
43	chr16:70551400-70553800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:70551400-70554800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr16:70551400-70555000	Weak transcription	Lung	lung
46	chr16:70551400-70556200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr16:70551400-70556200	Weak transcription	Gastric	stomach
48	chr16:70551400-70556400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr16:70551600-70554400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:70551600-70556000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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