Variant report

Variant	rs183379796
Chromosome Location	chr16:30545246-30545247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:30545220-30545370	GM06990	blood:	n/a	n/a
2	POLR2A	chr16:30537047-30547480	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:30545237-30546243	GM12891	blood:	n/a	n/a
4	POLR2A	chr16:30545082-30547574	K562	blood:	n/a	n/a
5	YY1	chr16:30544983-30546673	GM12892	blood:	n/a	chr16:30546286-30546294 chr16:30546287-30546297 chr16:30546173-30546185 chr16:30546275-30546297 chr16:30546280-30546299
6	CTCF	chr16:30545140-30545290	SK-N-SH_RA	brain:	n/a	n/a
7	HCFC1	chr16:30544857-30547593	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr16:30545073-30547561	GM12892	blood:	n/a	n/a
9	POLR2A	chr16:30545038-30547584	HepG2	liver:	n/a	n/a
10	CTCF	chr16:30545144-30545252	GM19240	blood:	n/a	n/a
11	POLR2A	chr16:30545234-30547618	GM12891	blood:	n/a	n/a
12	POLR2A	chr16:30544440-30547500	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr16:30545070-30548080	GM12878	blood:	n/a	n/a
14	YY1	chr16:30545052-30545274	K562	blood:	n/a	n/a
15	HEY1	chr16:30545095-30547507	HepG2	liver:	n/a	chr16:30546243-30546258
16	POLR2A	chr16:30545207-30547624	GM12891	blood:	n/a	n/a
17	YY1	chr16:30544896-30545461	HepG2	liver:	n/a	n/a
18	POLR2A	chr16:30545164-30547384	GM12892	blood:	n/a	n/a
19	MTA3	chr16:30545047-30547791	GM12878	blood:	n/a	n/a
20	POLR2A	chr16:30545154-30547443	Raji	blood:	n/a	n/a
21	POLR2A	chr16:30545084-30546961	GM12878	blood:	n/a	n/a
22	YY1	chr16:30544981-30545393	GM12878	blood:	n/a	n/a
23	RAD21	chr16:30545058-30545336	HepG2	liver:	n/a	n/a
24	POLR2A	chr16:30545079-30546984	GM12878	blood:	n/a	n/a
25	POLR2A	chr16:30545178-30547423	HUVEC	blood vessel:	n/a	n/a
26	YY1	chr16:30545011-30545445	GM12878	blood:	n/a	n/a
27	POLR2A	chr16:30545089-30547633	GM12892	blood:	n/a	n/a
28	RAD21	chr16:30544624-30547653	SK-N-SH	brain:	n/a	chr16:30546105-30546117 chr16:30546103-30546110 chr16:30546248-30546262 chr16:30547185-30547199
29	YY1	chr16:30545056-30545373	GM12891	blood:	n/a	n/a
30	CTCF	chr16:30545153-30545266	GM12892	blood:	n/a	n/a
31	POLR2A	chr16:30545065-30548041	GM12892	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30545157..30547413-chr16:30708234..30710909,2	K562	blood:
2	chr16:30439809..30443048-chr16:30544747..30548003,3	K562	blood:
3	chr16:30545060..30546594-chr16:30668041..30670734,2	K562	blood:
4	chr16:30074349..30076669-chr16:30543330..30545893,2	MCF-7	breast:
5	chr16:30541129..30548783-chr16:30576543..30583587,16	MCF-7	breast:
6	chr16:30544664..30548849-chr16:30597277..30601099,4	K562	blood:
7	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
8	chr16:30544819..30547359-chr16:30669370..30671346,2	MCF-7	breast:
9	chr16:30534557..30548684-chr16:30561877..30572653,49	MCF-7	breast:
10	chr16:30544371..30547496-chr16:30661598..30664666,3	K562	blood:
11	chr16:30544993..30547961-chr16:30709430..30711142,2	MCF-7	breast:
12	chr16:30454223..30458795-chr16:30544992..30549263,8	K562	blood:
13	chr16:30440428..30442526-chr16:30544936..30546517,2	K562	blood:
14	chr1:149857820..149858393-chr16:30545109..30545891,2	Hela-S3	cervix:
15	chr16:30543696..30550338-chr16:30595198..30599305,8	MCF-7	breast:
16	chr16:30440316..30443197-chr16:30545164..30548518,4	MCF-7	breast:
17	chr16:30454856..30459511-chr16:30543910..30548861,10	K562	blood:
18	chr16:30439652..30442096-chr16:30544594..30547144,2	MCF-7	breast:
19	chr16:30541481..30548892-chr16:30595486..30600580,13	MCF-7	breast:
20	chr16:30453263..30460635-chr16:30534974..30549190,40	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235560	TF binding region
ENSG00000261840	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000239791	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	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
2	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
4	nsv905726	chr16:30528272-30546488	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	esv3390311	chr16:30544451-30567432	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30544400-30545400	Enhancers	Fetal Heart	heart
2	chr16:30544400-30545600	Flanking Active TSS	Liver	Liver
3	chr16:30544400-30546200	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr16:30544600-30545400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
5	chr16:30544600-30545600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:30544600-30545600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr16:30544600-30545800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr16:30544600-30546400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr16:30544600-30546400	Active TSS	Osteobl	bone
10	chr16:30544600-30547200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr16:30544600-30547200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:30544600-30547600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:30544800-30545400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr16:30544800-30545400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr16:30544800-30545400	Enhancers	Spleen	Spleen
16	chr16:30544800-30545600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:30544800-30546600	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr16:30544800-30546800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:30544800-30547400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr16:30544800-30547400	Active TSS	Gastric	stomach
21	chr16:30544800-30547600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr16:30544800-30547600	Active TSS	Fetal Kidney	kidney
23	chr16:30544800-30547800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr16:30544800-30547800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:30545000-30545400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr16:30545000-30545400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr16:30545000-30545400	Enhancers	Fetal Brain Male	brain
28	chr16:30545000-30545400	Flanking Active TSS	Fetal Stomach	stomach
29	chr16:30545000-30545600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:30545000-30545600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:30545000-30545600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr16:30545000-30545600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr16:30545000-30545600	Flanking Active TSS	Fetal Lung	lung
34	chr16:30545000-30545600	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr16:30545000-30545600	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr16:30545000-30545800	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr16:30545000-30545800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr16:30545000-30546000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:30545000-30546000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:30545000-30546000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr16:30545000-30546200	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr16:30545000-30546200	Flanking Active TSS	HMEC	breast
43	chr16:30545000-30546600	Bivalent/Poised TSS	HepG2	liver
44	chr16:30545000-30546800	Active TSS	Duodenum Mucosa	Duodenum
45	chr16:30545000-30547200	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr16:30545000-30547200	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr16:30545000-30547200	Active TSS	Pancreas	Pancrea
48	chr16:30545000-30547200	Active TSS	GM12878-XiMat	blood
49	chr16:30545000-30547200	Active TSS	Hela-S3	cervix
50	chr16:30545000-30547400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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