Variant report

Variant	rs544473661
Chromosome Location	chr16:30428899-30428900
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30428172..30431085-chr17:59475920..59478019,2	MCF-7	breast:
2	chr16:30426230..30430771-chr16:30440207..30443266,5	K562	blood:
3	chr16:30367168..30369191-chr16:30427259..30429781,3	MCF-7	breast:
4	chr16:30427757..30432109-chr16:30437396..30442167,10	MCF-7	breast:
5	chr16:30428282..30430706-chr16:30650260..30652815,2	MCF-7	breast:
6	chr16:30100427..30103235-chr16:30427361..30429315,2	MCF-7	breast:
7	chr16:30427326..30429415-chr16:30670296..30671867,2	MCF-7	breast:
8	chr16:30427103..30429593-chr16:30455374..30458526,5	MCF-7	breast:
9	chr16:30427599..30430058-chr16:30620615..30623502,2	MCF-7	breast:
10	chr16:30387643..30390000-chr16:30427735..30430082,2	MCF-7	breast:
11	chr16:30428232..30430752-chr16:30661502..30664068,2	MCF-7	breast:
12	chr16:30427799..30431834-chr16:30534294..30540593,7	MCF-7	breast:
13	chr16:30428527..30430623-chr16:30582267..30583993,2	MCF-7	breast:
14	chr16:30378643..30380815-chr16:30427484..30429569,2	MCF-7	breast:
15	chr16:30427113..30429104-chr16:30669120..30671415,2	MCF-7	breast:
16	chr16:30428344..30430995-chr16:30535727..30539808,4	MCF-7	breast:
17	chr16:30428007..30431562-chr16:30708422..30711318,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239791	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000149922	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000267280	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	esv3394301	chr16:30426951-30431549	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 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	chr16:30421200-30437600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:30421200-30437600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:30427200-30430200	Strong transcription	HepG2	liver
4	chr16:30427600-30430600	Weak transcription	K562	blood
5	chr16:30428200-30429800	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr16:30428200-30430000	Enhancers	Fetal Brain Male	brain
7	chr16:30428400-30429000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr16:30428400-30429000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr16:30428400-30429000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr16:30428400-30429000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr16:30428400-30429000	Flanking Active TSS	NHEK	skin
12	chr16:30428400-30429200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:30428400-30429600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr16:30428400-30429600	Active TSS	Brain Angular Gyrus	brain
15	chr16:30428400-30429600	Active TSS	Brain Germinal Matrix	brain
16	chr16:30428400-30429800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:30428400-30429800	Active TSS	Rectal Smooth Muscle	rectum
18	chr16:30428400-30429800	Active TSS	A549	lung
19	chr16:30428400-30429800	Active TSS	Osteobl	bone
20	chr16:30428400-30430000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr16:30428400-30430000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:30428400-30430000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr16:30428400-30430200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr16:30428400-30430200	Active TSS	Brain Anterior Caudate	brain
25	chr16:30428400-30430200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr16:30428400-30430200	Flanking Active TSS	Dnd41	blood
27	chr16:30428400-30430200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr16:30428400-30430400	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr16:30428600-30429000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:30428600-30429000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr16:30428600-30429000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr16:30428600-30429000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:30428600-30429000	Flanking Active TSS	Pancreas	Pancrea
34	chr16:30428600-30429000	Flanking Active TSS	Psoas Muscle	Psoas
35	chr16:30428600-30429000	Flanking Active TSS	Stomach Mucosa	stomach
36	chr16:30428600-30429000	Flanking Active TSS	HUVEC	blood vessel
37	chr16:30428600-30429000	Flanking Active TSS	NH-A	brain
38	chr16:30428600-30429200	Active TSS	Colonic Mucosa	Colon
39	chr16:30428600-30429400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr16:30428600-30429600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:30428600-30429600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr16:30428600-30429600	Active TSS	Spleen	Spleen
43	chr16:30428600-30429600	Active TSS	NHDF-Ad	bronchial
44	chr16:30428600-30429800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:30428600-30429800	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr16:30428600-30429800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr16:30428600-30429800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:30428600-30429800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr16:30428600-30429800	Active TSS	Fetal Kidney	kidney
50	chr16:30428600-30429800	Active TSS	Left Ventricle	heart

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