Variant report

Variant	rs557298063
Chromosome Location	chr16:30428456-30428457
allele	C/T
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 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	chr16:30133035..30135349-chr16:30425863..30428832,2	MCF-7	breast:
6	chr16:30428282..30430706-chr16:30650260..30652815,2	MCF-7	breast:
7	chr16:30100427..30103235-chr16:30427361..30429315,2	MCF-7	breast:
8	chr16:30427326..30429415-chr16:30670296..30671867,2	MCF-7	breast:
9	chr16:30124184..30126989-chr16:30425859..30428488,3	K562	blood:
10	chr16:30388796..30390827-chr16:30426623..30428713,2	MCF-7	breast:
11	chr16:30427103..30429593-chr16:30455374..30458526,5	MCF-7	breast:
12	chr16:30427599..30430058-chr16:30620615..30623502,2	MCF-7	breast:
13	chr16:30387643..30390000-chr16:30427735..30430082,2	MCF-7	breast:
14	chr16:30428232..30430752-chr16:30661502..30664068,2	MCF-7	breast:
15	chr16:30427799..30431834-chr16:30534294..30540593,7	MCF-7	breast:
16	chr16:30378643..30380815-chr16:30427484..30429569,2	MCF-7	breast:
17	chr16:30122802..30125684-chr16:30426687..30428488,2	K562	blood:
18	chr16:30427113..30429104-chr16:30669120..30671415,2	MCF-7	breast:
19	chr16:30428344..30430995-chr16:30535727..30539808,4	MCF-7	breast:
20	chr16:30428007..30431562-chr16:30708422..30711318,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267280	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000102886	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000102882	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000149922	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000179918	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30419200-30428800	Weak transcription	Small Intestine	intestine
2	chr16:30419600-30428600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:30419800-30428600	Weak transcription	Esophagus	oesophagus
4	chr16:30419800-30428800	Weak transcription	Gastric	stomach
5	chr16:30420000-30428800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:30421200-30428600	Weak transcription	Colonic Mucosa	Colon
7	chr16:30421200-30437600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:30421200-30437600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:30421400-30428600	Weak transcription	Hela-S3	cervix
10	chr16:30421400-30428800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:30422000-30428600	Weak transcription	Stomach Mucosa	stomach
12	chr16:30423200-30428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:30423400-30428600	Weak transcription	Fetal Kidney	kidney
14	chr16:30423400-30428600	Weak transcription	Right Ventricle	heart
15	chr16:30423600-30428600	Weak transcription	Aorta	Aorta
16	chr16:30423600-30428600	Weak transcription	HMEC	breast
17	chr16:30423800-30428600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr16:30423800-30428600	Weak transcription	Lung	lung
19	chr16:30423800-30428600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr16:30423800-30428600	Weak transcription	NH-A	brain
21	chr16:30424000-30428600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:30424000-30428600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr16:30424000-30428600	Weak transcription	NHLF	lung
24	chr16:30424600-30428600	Weak transcription	Left Ventricle	heart
25	chr16:30425200-30428600	Weak transcription	HSMMtube	muscle
26	chr16:30425800-30428600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr16:30425800-30428600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:30425800-30428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:30425800-30428600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr16:30425800-30428600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:30425800-30428600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:30425800-30428600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:30425800-30428600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:30425800-30428600	Weak transcription	Fetal Intestine Large	intestine
35	chr16:30425800-30428600	Weak transcription	Ovary	ovary
36	chr16:30425800-30428600	Weak transcription	Pancreas	Pancrea
37	chr16:30425800-30428600	Weak transcription	Psoas Muscle	Psoas
38	chr16:30425800-30428600	Weak transcription	Right Atrium	heart
39	chr16:30425800-30428600	Weak transcription	HSMM	muscle
40	chr16:30426000-30428600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:30426000-30428600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr16:30426800-30428800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr16:30427000-30428600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr16:30427200-30430200	Strong transcription	HepG2	liver
45	chr16:30427400-30428800	Enhancers	Fetal Heart	heart
46	chr16:30427600-30428600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr16:30427600-30430600	Weak transcription	K562	blood
48	chr16:30427800-30428600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr16:30428000-30428600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr16:30428000-30428600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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