Variant report

Variant	rs34557213
Chromosome Location	chr16:46920328-46920329
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46916007..46917928-chr16:46919979..46921962,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12930613	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59542300	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription 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	39 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46917200-46920800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr16:46917200-46921200	Active TSS	Pancreas	Pancrea
3	chr16:46917400-46920400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr16:46917400-46920800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:46917600-46920600	Active TSS	Gastric	stomach
6	chr16:46918800-46920600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr16:46918800-46920800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr16:46918800-46920800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:46918800-46921000	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr16:46918800-46921000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr16:46918800-46921000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr16:46919000-46921000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
13	chr16:46919000-46945400	Weak transcription	Aorta	Aorta
14	chr16:46919000-46963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr16:46919200-46920400	Enhancers	K562	blood
16	chr16:46919200-46921200	Enhancers	Fetal Brain Male	brain
17	chr16:46919200-46927600	Weak transcription	Ovary	ovary
18	chr16:46919200-46931600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:46919200-46933200	Weak transcription	HUVEC	blood vessel
20	chr16:46919200-46934400	Weak transcription	Lung	lung
21	chr16:46919400-46920400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr16:46919400-46920400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr16:46919400-46920400	Flanking Active TSS	HSMMtube	muscle
24	chr16:46919400-46920600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr16:46919400-46920600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr16:46919400-46920600	Flanking Active TSS	Stomach Mucosa	stomach
27	chr16:46919400-46920600	Flanking Active TSS	NH-A	brain
28	chr16:46919400-46920800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:46919400-46920800	Flanking Active TSS	NHEK	skin
30	chr16:46919400-46921000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:46919400-46921200	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr16:46919400-46921600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr16:46919400-46921800	Flanking Active TSS	Liver	Liver
34	chr16:46919400-46921800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:46919400-46927800	Weak transcription	Colon Smooth Muscle	Colon
36	chr16:46919400-46931600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr16:46919600-46920400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr16:46919600-46920400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr16:46919600-46920400	Enhancers	Fetal Intestine Small	intestine
40	chr16:46919600-46920400	Flanking Active TSS	HMEC	breast
41	chr16:46919600-46920600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr16:46919600-46920600	Flanking Active TSS	HSMM	muscle
43	chr16:46919600-46920800	Enhancers	Placenta	Placenta
44	chr16:46919600-46920800	Enhancers	NHLF	lung
45	chr16:46919600-46921000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:46919600-46921000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr16:46919600-46921000	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr16:46919600-46921000	Enhancers	Fetal Muscle Leg	muscle
49	chr16:46919600-46923400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr16:46919600-46923800	Weak transcription	Primary B cells from peripheral blood	blood

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