Variant report

Variant	rs557490799
Chromosome Location	chr16:30378752-30378753
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30374941..30377851-chr16:30378291..30382008,9	K562	blood:
2	chr16:30344696..30347636-chr16:30378058..30380333,2	MCF-7	breast:
3	chr16:30376477..30383094-chr16:30415979..30420163,8	MCF-7	breast:
4	chr16:30346170..30348596-chr16:30376800..30378752,2	MCF-7	breast:
5	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
6	chr16:30376934..30383374-chr16:30417165..30421108,8	K562	blood:
7	chr16:30376626..30379434-chr16:30417426..30420453,4	MCF-7	breast:
8	chr16:30378594..30387256-chr16:30387352..30391288,21	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169221	Chromatin interaction
ENSG00000183604	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000179965	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	esv1794891	chr16:30376269-30382642	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	esv1795117	chr16:30376269-30382642	Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	esv1803705	chr16:30376269-30382642	Genic enhancers Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
12	esv1791873	chr16:30376959-30382642	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	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
13	esv1801199	chr16:30376959-30382642	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
14	nsv905725	chr16:30376959-30420851	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30367600-30378800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:30368200-30379000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:30368400-30378800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:30368400-30378800	Weak transcription	HSMMtube	muscle
5	chr16:30369400-30380000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:30370600-30378800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr16:30370800-30379000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr16:30371000-30379200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr16:30371600-30378800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr16:30371800-30378800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr16:30372000-30379200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:30374000-30378800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:30374800-30379600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr16:30375800-30379000	Enhancers	Fetal Heart	heart
15	chr16:30376400-30379000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr16:30376600-30378800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:30376800-30378800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr16:30376800-30378800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr16:30377000-30378800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr16:30377000-30378800	Weak transcription	Esophagus	oesophagus
21	chr16:30377000-30379000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:30377200-30378800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:30377200-30378800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:30377200-30378800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr16:30377400-30378800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr16:30377400-30379000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:30377600-30378800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr16:30377600-30379400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:30377800-30378800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr16:30377800-30378800	Enhancers	HepG2	liver
31	chr16:30377800-30379000	Enhancers	Small Intestine	intestine
32	chr16:30377800-30379600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr16:30378000-30378800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
34	chr16:30378000-30378800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
35	chr16:30378000-30378800	Flanking Active TSS	Fetal Brain Female	brain
36	chr16:30378000-30378800	Enhancers	Gastric	stomach
37	chr16:30378000-30378800	Enhancers	Stomach Mucosa	stomach
38	chr16:30378000-30378800	Enhancers	Thymus	Thymus
39	chr16:30378000-30378800	Active TSS	GM12878-XiMat	blood
40	chr16:30378000-30379000	Genic enhancers	Primary monocytes fromperipheralblood	blood
41	chr16:30378000-30379000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr16:30378000-30379200	Enhancers	Primary B cells from cord blood	blood
43	chr16:30378000-30379200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr16:30378000-30379400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr16:30378000-30379400	Transcr. at gene 5' and 3'	Dnd41	blood
46	chr16:30378000-30379600	Enhancers	Primary B cells from peripheral blood	blood
47	chr16:30378200-30378800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr16:30378200-30378800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr16:30378200-30378800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr16:30378200-30378800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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