Variant report

Variant	rs74016220
Chromosome Location	chr16:47900515-47900516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47898981..47901770-chr16:47903295..47905311,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12920938	1.00[EUR][1000 genomes]
rs2216362	1.00[EUR][1000 genomes]
rs2216363	1.00[EUR][1000 genomes]
rs41427947	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41438546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58917857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60269785	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61075689	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61351980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187698	1.00[EUR][1000 genomes]
rs74016219	1.00[EUR][1000 genomes]
rs74016273	1.00[EUR][1000 genomes]
rs8057474	1.00[EUR][1000 genomes]

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	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
2	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv428657	chr16:47748036-47913816	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv833218	chr16:47869819-48051745	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47898200-47902000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr16:47899200-47901200	Enhancers	NHEK	skin
3	chr16:47899400-47900600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:47899400-47900600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr16:47899400-47900600	Enhancers	Fetal Muscle Leg	muscle
6	chr16:47899400-47900800	Enhancers	Brain Germinal Matrix	brain
7	chr16:47899400-47901000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:47899400-47901000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr16:47899400-47901000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr16:47899400-47901000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr16:47899400-47901000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr16:47899400-47901000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr16:47899400-47901000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:47899400-47901000	Enhancers	HMEC	breast
15	chr16:47899400-47901200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr16:47899400-47901200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:47899600-47900600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr16:47899600-47900600	Enhancers	Fetal Brain Female	brain
19	chr16:47899600-47901000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr16:47899600-47901000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:47899600-47901000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:47899600-47901000	Enhancers	Fetal Brain Male	brain
23	chr16:47899800-47900800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr16:47899800-47900800	Enhancers	Left Ventricle	heart
25	chr16:47899800-47901200	Enhancers	Fetal Lung	lung
26	chr16:47900000-47901000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr16:47900000-47905200	Weak transcription	Pancreas	Pancrea
28	chr16:47900200-47900600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:47900200-47900800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr16:47900200-47903600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr16:47900400-47900600	Enhancers	Brain Anterior Caudate	brain
32	chr16:47900400-47900800	Weak transcription	Spleen	Spleen
33	chr16:47900400-47901000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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