Variant report

Variant	rs568708251
Chromosome Location	chr16:81350055-81350056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr16:81347380-81350098	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81348969..81350661-chr16:81387216..81389989,2	MCF-7	breast:
2	chr16:81347539..81350872-chr16:81478035..81482618,4	MCF-7	breast:
3	chr16:81347950..81350114-chr16:81397372..81401433,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260495	TF binding region
ENSG00000261609	Chromatin interaction
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81346800-81350200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr16:81347000-81350200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:81347200-81350400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:81347800-81350200	Active TSS	Right Atrium	heart
5	chr16:81347800-81350200	Active TSS	Right Ventricle	heart
6	chr16:81348000-81350200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:81348000-81350200	Active TSS	HMEC	breast
8	chr16:81348200-81351800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr16:81349400-81350200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr16:81349400-81350400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr16:81349400-81350400	Flanking Active TSS	Dnd41	blood
12	chr16:81349600-81350200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:81349600-81350400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:81349600-81350400	Enhancers	Spleen	Spleen
15	chr16:81349600-81351200	Enhancers	Small Intestine	intestine
16	chr16:81349600-81352000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:81349600-81352000	Weak transcription	Gastric	stomach
18	chr16:81349800-81350200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
19	chr16:81349800-81350200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr16:81349800-81350200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr16:81349800-81350400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr16:81349800-81350400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr16:81349800-81350400	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr16:81349800-81350400	Enhancers	Fetal Muscle Leg	muscle
25	chr16:81349800-81350600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr16:81349800-81350800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr16:81349800-81352400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr16:81349800-81352400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:81349800-81352400	Weak transcription	Esophagus	oesophagus
30	chr16:81349800-81352400	Weak transcription	Left Ventricle	heart
31	chr16:81349800-81352400	Weak transcription	Psoas Muscle	Psoas
32	chr16:81349800-81357800	Weak transcription	Lung	lung
33	chr16:81349800-81358000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:81349800-81358400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr16:81349800-81358400	Weak transcription	Ovary	ovary
36	chr16:81349800-81365800	Weak transcription	Aorta	Aorta
37	chr16:81350000-81350200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr16:81350000-81350200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr16:81350000-81350200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr16:81350000-81350200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:81350000-81350200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:81350000-81350200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:81350000-81350200	Enhancers	Brain Germinal Matrix	brain
44	chr16:81350000-81350200	Enhancers	Hela-S3	cervix
45	chr16:81350000-81350200	Active TSS	NHEK	skin
46	chr16:81350000-81350400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr16:81350000-81350400	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr16:81350000-81350400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr16:81350000-81350400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr16:81350000-81350400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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