Variant report

Variant	rs74016202
Chromosome Location	chr16:46963844-46963845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:46707001..46707974-chr16:46963384..46964655,3	K562	blood:
2	chr16:46934207..46935040-chr16:46963392..46964242,3	MCF-7	breast:
3	chr16:46963289..46964254-chr16:47009598..47010534,2	K562	blood:
4	chr16:46887954..46888533-chr16:46963297..46964234,2	MCF-7	breast:
5	chr16:46888367..46890662-chr16:46962617..46964242,2	MCF-7	breast:
6	chr16:46892458..46893278-chr16:46963324..46964061,2	MCF-7	breast:
7	chr16:46663117..46663909-chr16:46963648..46964236,2	MCF-7	breast:
8	chr16:46961874..46965878-chr16:47005417..47009744,4	K562	blood:
9	chr16:46958303..46960272-chr16:46962691..46966438,3	MCF-7	breast:
10	chr16:46723168..46725255-chr16:46962696..46965369,2	K562	blood:
11	chr16:46887624..46888459-chr16:46963379..46963903,4	MCF-7	breast:
12	chr16:46956713..46958573-chr16:46963191..46964847,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261173	Chromatin interaction
ENSG00000069329	Chromatin interaction
ENSG00000091651	Chromatin interaction
ENSG00000069345	Chromatin interaction
ENSG00000166123	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs59353519	1.00[AMR][1000 genomes]
rs74019110	1.00[AMR][1000 genomes]
rs74019131	1.00[AMR][1000 genomes]
rs74019132	1.00[AMR][1000 genomes]
rs74019133	1.00[AMR][1000 genomes]
rs8051380	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061766	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
8	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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46928400-46966000	Strong transcription	Fetal Brain Female	brain
2	chr16:46929400-46965200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr16:46930800-46965400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr16:46930800-46968400	Weak transcription	Right Atrium	heart
5	chr16:46931600-46965200	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr16:46932200-46965200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:46933600-46965400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:46933800-46965800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr16:46939600-46964800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:46940000-46964600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:46943200-46965200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:46943200-46965400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr16:46943400-46965000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr16:46943400-46965000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr16:46943400-46965200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr16:46943400-46965400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:46943400-46965400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:46943400-46965400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:46945800-46965200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr16:46945800-46965400	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr16:46949800-46964200	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr16:46950000-46965200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:46951800-46966800	Weak transcription	Fetal Brain Male	brain
24	chr16:46953600-46965000	Weak transcription	A549	lung
25	chr16:46955400-46965200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr16:46955600-46964200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:46955600-46965200	Strong transcription	Liver	Liver
28	chr16:46955600-46966600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr16:46955800-46965200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:46955800-46965800	Strong transcription	Brain Germinal Matrix	brain
31	chr16:46956000-46965200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr16:46956200-46966800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:46956600-46964000	Weak transcription	Colonic Mucosa	Colon
34	chr16:46957200-46965000	Strong transcription	Esophagus	oesophagus
35	chr16:46958000-46965200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:46958200-46964600	Strong transcription	Gastric	stomach
37	chr16:46958400-46964400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr16:46958400-46966000	Weak transcription	Fetal Lung	lung
39	chr16:46958400-46966200	Weak transcription	Fetal Kidney	kidney
40	chr16:46958600-46965000	Weak transcription	Osteobl	bone
41	chr16:46958600-46965200	Strong transcription	Fetal Muscle Leg	muscle
42	chr16:46958800-46964400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr16:46958800-46965200	Strong transcription	Fetal Stomach	stomach
44	chr16:46959000-46964800	Weak transcription	NH-A	brain
45	chr16:46959200-46965000	Weak transcription	Right Ventricle	heart
46	chr16:46960200-46964400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:46960200-46965000	Strong transcription	HepG2	liver
48	chr16:46960400-46964400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:46960600-46964200	Strong transcription	NHEK	skin
50	chr16:46960600-46965200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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