Variant report

Variant	rs545333934
Chromosome Location	chr16:70471969-70471970
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70469678..70473680-chr16:70486697..70489592,5	K562	blood:
2	chr16:70414149..70416279-chr16:70469419..70471972,3	MCF-7	breast:
3	chr16:70470847..70473025-chr16:70556099..70558287,2	K562	blood:
4	chr16:70384661..70386503-chr16:70470352..70471994,2	K562	blood:
5	chr16:70455763..70457596-chr16:70471554..70474518,2	K562	blood:
6	chr16:70425305..70429574-chr16:70469861..70473545,6	K562	blood:
7	chr16:70470745..70475630-chr16:70476191..70481668,5	MCF-7	breast:
8	chr16:70471134..70474092-chr16:70555921..70560516,5	K562	blood:
9	chr16:70379526..70383319-chr16:70470652..70474068,4	K562	blood:
10	chr16:70470174..70475385-chr16:70486021..70489021,8	K562	blood:
11	chr16:70427347..70429652-chr16:70469861..70473258,4	K562	blood:
12	chr16:70471110..70472642-chr16:70476908..70478527,2	K562	blood:
13	chr16:70470349..70472713-chr17:58712894..58714465,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000157350	Chromatin interaction
ENSG00000200153	Chromatin interaction
ENSG00000157353	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000240043	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000103051	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3446155	chr16:70471476-70474424	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3415918	chr16:70471751-70474174	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr16:70470400-70472000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr16:70470400-70472000	Flanking Active TSS	NH-A	brain
3	chr16:70470400-70472400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:70470400-70472400	Flanking Active TSS	Hela-S3	cervix
5	chr16:70470600-70472200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr16:70470600-70472200	Enhancers	Spleen	Spleen
7	chr16:70470600-70472200	Flanking Active TSS	A549	lung
8	chr16:70470600-70472400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr16:70470600-70472400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr16:70470600-70472400	Flanking Active TSS	HUVEC	blood vessel
11	chr16:70470600-70472600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr16:70470600-70472600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr16:70470800-70472000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:70470800-70472000	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr16:70470800-70472200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:70470800-70472400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:70470800-70472400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:70470800-70472400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:70470800-70472400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr16:70470800-70472400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:70470800-70472400	Flanking Active TSS	Fetal Brain Female	brain
22	chr16:70470800-70472400	Flanking Active TSS	Fetal Heart	heart
23	chr16:70470800-70472400	Flanking Active TSS	HSMM	muscle
24	chr16:70470800-70472400	Flanking Active TSS	Osteobl	bone
25	chr16:70470800-70472600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr16:70470800-70472600	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr16:70470800-70472600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr16:70470800-70472600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr16:70470800-70472600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr16:70470800-70472600	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr16:70470800-70472600	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr16:70470800-70472600	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr16:70470800-70472600	Flanking Active TSS	Dnd41	blood
34	chr16:70471000-70472000	Enhancers	Esophagus	oesophagus
35	chr16:70471000-70472000	Flanking Active TSS	Fetal Stomach	stomach
36	chr16:70471000-70472000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr16:70471000-70472000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr16:70471000-70472200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr16:70471000-70472200	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr16:70471000-70472400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:70471000-70472400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:70471000-70472400	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr16:70471000-70472400	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr16:70471000-70472400	Flanking Active TSS	Right Ventricle	heart
45	chr16:70471000-70472400	Flanking Active TSS	NHLF	lung
46	chr16:70471000-70472600	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr16:70471000-70472600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr16:70471000-70472600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr16:70471000-70472600	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr16:70471000-70472600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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