Variant report

Variant	rs55683684
Chromosome Location	chr16:70307850-70307851
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	chr16:70305947..70308842-chr16:70321438..70323687,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157349	Chromatin interaction
ENSG00000090861	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55693362	0.94[AFR][1000 genomes]
rs57326693	0.83[AFR][1000 genomes]
rs58575154	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58592676	0.96[AFR][1000 genomes]
rs60165217	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61466321	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026021	0.84[AFR][1000 genomes]
rs74026023	0.86[AFR][1000 genomes]
rs74026029	0.84[AFR][1000 genomes]
rs8063675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9940353	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv428328	chr16:69986563-70313222	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1820100	chr16:70048808-70311044	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	esv33745	chr16:70116599-70319873	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv906870	chr16:70295061-70323126	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70285800-70310200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:70286000-70316400	Strong transcription	Liver	Liver
3	chr16:70286000-70318600	Strong transcription	Fetal Intestine Large	intestine
4	chr16:70286000-70319000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:70286000-70320000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr16:70286000-70320400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:70286000-70320400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:70286000-70320400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:70286000-70320400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr16:70286000-70320400	Strong transcription	Osteobl	bone
11	chr16:70286000-70321400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:70286000-70321400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr16:70286200-70311000	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr16:70286200-70316600	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr16:70286200-70317200	Strong transcription	Placenta	Placenta
16	chr16:70286200-70317400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr16:70286200-70317400	Strong transcription	Fetal Thymus	thymus
18	chr16:70286200-70318600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:70286200-70319000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr16:70286200-70319600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:70286200-70319800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr16:70286200-70320000	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr16:70286200-70320400	Strong transcription	Fetal Muscle Leg	muscle
24	chr16:70286200-70320400	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr16:70286200-70320600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr16:70286200-70321200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr16:70286200-70321400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:70286200-70321400	Strong transcription	Fetal Stomach	stomach
29	chr16:70286200-70321600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:70286400-70308400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:70286400-70309000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr16:70286400-70316800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr16:70286400-70317000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr16:70286400-70317400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr16:70286400-70317400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr16:70286400-70317800	Strong transcription	Brain Germinal Matrix	brain
37	chr16:70286400-70318000	Strong transcription	Adipose Nuclei	Adipose
38	chr16:70286400-70319800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr16:70286400-70319800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:70286400-70320000	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr16:70286400-70320000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr16:70286400-70320400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr16:70286600-70309200	Strong transcription	Dnd41	blood
44	chr16:70286600-70317200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr16:70287200-70321800	Weak transcription	Right Atrium	heart
46	chr16:70287400-70320000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:70288600-70320000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr16:70289400-70308400	Strong transcription	Fetal Lung	lung
49	chr16:70289800-70308200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr16:70289800-70311000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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