Variant report

Variant	rs370266226
Chromosome Location	chr16:30380677-30380678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30380374-30381012	MCF-7	breast:	n/a	n/a
2	POLR2A	chr16:30379742-30381074	K562	blood:	n/a	n/a
3	MXI1	chr16:30379257-30383440	SK-N-SH	brain:	n/a	n/a
4	E2F6	chr16:30380612-30380788	K562	blood:	n/a	n/a
5	MTA3	chr16:30380592-30381172	GM12878	blood:	n/a	n/a
6	YY1	chr16:30380481-30380686	K562	blood:	n/a	n/a
7	UBTF	chr16:30380566-30381749	K562	blood:	n/a	n/a
8	MXI1	chr16:30380479-30381032	Hela-S3	cervix:	n/a	n/a
9	GATA3	chr16:30380439-30380813	T-47D	breast:	n/a	n/a
10	GATA2	chr16:30380459-30380860	SH-SY5Y	brain:	n/a	n/a
11	POLR2A	chr16:30380285-30381989	K562	blood:	n/a	n/a
12	HCFC1	chr16:30379515-30382955	Hela-S3	cervix:	n/a	n/a
13	GATA3	chr16:30380399-30380851	MCF-7	breast:	n/a	n/a
14	MAX	chr16:30380263-30381093	K562	blood:	n/a	n/a
15	POLR2A	chr16:30380655-30380724	HepG2	liver:	n/a	n/a
16	POLR2A	chr16:30380676-30380724	MCF-7	breast:	n/a	n/a
17	MAX	chr16:30380567-30380949	K562	blood:	n/a	n/a
18	SIN3AK20	chr16:30380495-30380850	SK-N-SH	brain:	n/a	n/a
19	EBF1	chr16:30380345-30380708	GM12878	blood:	n/a	n/a
20	SIN3AK20	chr16:30380242-30380859	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr16:30380415-30381037	SK-N-MC	brain:	n/a	n/a
22	MXI1	chr16:30379494-30382869	IMR90	lung:	n/a	n/a
23	MAZ	chr16:30379111-30382991	IMR90	lung:	n/a	chr16:30381934-30381944 chr16:30381735-30381745

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	chr16:30376477..30383094-chr16:30415979..30420163,8	MCF-7	breast:
3	chr16:30379558..30384763-chr16:30404117..30407449,5	MCF-7	breast:
4	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
5	chr16:30378764..30380971-chr16:30419142..30421108,2	K562	blood:
6	chr16:30196751..30201052-chr16:30379113..30382636,3	MCF-7	breast:
7	chr16:30376934..30383374-chr16:30417165..30421108,8	K562	blood:
8	chr16:30378594..30387256-chr16:30387352..30391288,21	MCF-7	breast:

No data

Variant related genes	Relation type
TBC1D10B	TF binding region
MYLPF	TF binding region
ENSG00000102879	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000180096	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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
15	esv1815600	chr16:30380486-30381735	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
16	esv1794103	chr16:30380486-30382642	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 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	chr16:30378600-30381000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:30378600-30381000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:30378600-30381000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr16:30378600-30381000	Flanking Active TSS	Osteobl	bone
5	chr16:30378600-30381200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr16:30378600-30381200	Active TSS	Fetal Kidney	kidney
7	chr16:30378600-30381200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr16:30378600-30381400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:30378800-30380800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
10	chr16:30378800-30381000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr16:30378800-30381000	Flanking Active TSS	Colonic Mucosa	Colon
12	chr16:30378800-30381000	Flanking Active TSS	Pancreas	Pancrea
13	chr16:30378800-30381000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr16:30378800-30381000	Flanking Active TSS	HUVEC	blood vessel
15	chr16:30378800-30381000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr16:30378800-30381200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr16:30378800-30381200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr16:30378800-30381200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr16:30378800-30381200	Flanking Active TSS	Liver	Liver
20	chr16:30378800-30382800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr16:30379000-30381000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr16:30379000-30381000	Flanking Active TSS	Placenta	Placenta
23	chr16:30379000-30381200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr16:30379000-30381200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr16:30379000-30381200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr16:30379000-30381200	Flanking Active TSS	Fetal Thymus	thymus
27	chr16:30379000-30383000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr16:30379200-30380800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr16:30379200-30381200	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr16:30379200-30381200	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr16:30379200-30381200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:30379200-30381200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr16:30379200-30381400	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr16:30379200-30381600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:30379400-30380800	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr16:30379400-30381000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr16:30379400-30381000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr16:30379400-30381000	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr16:30379400-30381000	Flanking Active TSS	Dnd41	blood
40	chr16:30379400-30382800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:30379400-30382800	Active TSS	Ovary	ovary
42	chr16:30379600-30380800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:30379600-30381000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:30379600-30381000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr16:30379600-30381000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
46	chr16:30379600-30381200	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr16:30379600-30381200	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr16:30379600-30381200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr16:30379600-30381200	Active TSS	Stomach Mucosa	stomach
50	chr16:30379600-30381800	Active TSS	Muscle Satellite Cultured Cells	--

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