Variant report

Variant	rs200157373
Chromosome Location	chr16:30545895-30545896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30545378-30547485	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr16:30545526-30547407	GM19099	blood:	n/a	n/a
3	HDAC2	chr16:30545836-30546815	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:30545269-30546761	MCF-7	breast:	n/a	n/a
5	CTCF	chr16:30545860-30546010	SAEC	small airway:	n/a	n/a
6	TAF1	chr16:30545323-30546591	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:30545471-30546702	PANC-1	pancreas:	n/a	n/a
8	CTCF	chr16:30545760-30545910	SK-N-SH_RA	brain:	n/a	n/a
9	ELF1	chr16:30545882-30546809	A549	lung:	n/a	chr16:30546180-30546189
10	SRF	chr16:30545851-30546816	MCF-7	breast:	n/a	n/a
11	POLR2A	chr16:30537047-30547480	HepG2	liver:	n/a	n/a
12	PAX5	chr16:30545781-30546539	GM12892	blood:	n/a	chr16:30546246-30546255
13	POLR2A	chr16:30545237-30546243	GM12891	blood:	n/a	n/a
14	POLR2A	chr16:30545516-30547300	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr16:30545684-30546775	PANC-1	pancreas:	n/a	n/a
16	TAF1	chr16:30545687-30546748	A549	lung:	n/a	n/a
17	POLR2A	chr16:30545377-30547476	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr16:30545731-30547295	HepG2	liver:	n/a	n/a
19	POLR2A	chr16:30545540-30547380	MCF10A-Er-Src	breast:	n/a	n/a
20	MAX	chr16:30545663-30547523	Hela-S3	cervix:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
21	ETS1	chr16:30545893-30546688	A549	lung:	n/a	n/a
22	POLR2A	chr16:30545715-30547313	MCF-7	breast:	n/a	n/a
23	CTCF	chr16:30545860-30546010	K562	blood:	n/a	n/a
24	TAF1	chr16:30545324-30547329	H1-hESC	embryonic stem cell:	n/a	n/a
25	REST	chr16:30545623-30547398	H1-neurons	neurons:	n/a	n/a
26	EGR1	chr16:30545789-30546797	HCT-116	colon:	n/a	chr16:30546331-30546340 chr16:30546245-30546258 chr16:30546245-30546258
27	GABPA	chr16:30545834-30546801	A549	lung:	n/a	chr16:30546244-30546253 chr16:30546327-30546341 chr16:30546242-30546251 chr16:30546330-30546341
28	SIX5	chr16:30545762-30546871	A549	lung:	n/a	n/a
29	REST	chr16:30545867-30546908	A549	lung:	n/a	n/a
30	RCOR1	chr16:30545814-30546546	Hela-S3	cervix:	n/a	n/a
31	ZEB1	chr16:30545475-30546598	GM12878	blood:	n/a	chr16:30546350-30546357 chr16:30545510-30545523
32	POLR2A	chr16:30545082-30547574	K562	blood:	n/a	n/a
33	MAX	chr16:30545841-30546845	SK-N-SH	brain:	n/a	n/a
34	MAZ	chr16:30545651-30546851	IMR90	lung:	n/a	n/a
35	HNF4A	chr16:30545687-30546437	HepG2	liver:	n/a	chr16:30546197-30546211 chr16:30546197-30546211 chr16:30546198-30546211 chr16:30546197-30546210 chr16:30546197-30546211 chr16:30546195-30546213 chr16:30546189-30546204 chr16:30546198-30546210
36	POLR2A	chr16:30545709-30546554	IMR90	lung:	n/a	n/a
37	RAD21	chr16:30545792-30546607	HepG2	liver:	n/a	chr16:30546105-30546117 chr16:30546103-30546110 chr16:30546248-30546262
38	POLR2A	chr16:30545728-30546854	HCT-116	colon:	n/a	n/a
39	CTCF	chr16:30545840-30545990	AG04449	skin:	n/a	n/a
40	MAX	chr16:30545502-30547441	A549	lung:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
41	POLR2A	chr16:30545631-30547458	HepG2	liver:	n/a	n/a
42	POLR2A	chr16:30545506-30546710	GM18951	blood:	n/a	n/a
43	CEBPD	chr16:30545832-30546603	HepG2	liver:	n/a	n/a
44	E2F6	chr16:30545684-30547455	K562	blood:	n/a	chr16:30546244-30546253
45	MAX	chr16:30545801-30546882	H1-hESC	embryonic stem cell:	n/a	n/a
46	YY1	chr16:30545836-30546693	HCT-116	colon:	n/a	chr16:30546286-30546294 chr16:30546287-30546297 chr16:30546173-30546185 chr16:30546275-30546297 chr16:30546280-30546299
47	CTCF	chr16:30545880-30546030	HPAF	blood vessel:	n/a	n/a
48	UBTF	chr16:30545809-30546642	K562	blood:	n/a	n/a
49	YY1	chr16:30545785-30546646	K562	blood:	n/a	chr16:30546286-30546294 chr16:30546287-30546297 chr16:30546173-30546185 chr16:30546275-30546297 chr16:30546280-30546299
50	TAF1	chr16:30545891-30546626	GM12892	blood:	n/a	n/a

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	chr16:30545890..30546725-chr16:30596237..30597056,2	MCF-7	breast:
5	chr16:30545798..30549380-chr16:30578344..30585176,6	K562	blood:
6	chr16:30541129..30548783-chr16:30576543..30583587,16	MCF-7	breast:
7	chr16:30544664..30548849-chr16:30597277..30601099,4	K562	blood:
8	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
9	chr16:30544819..30547359-chr16:30669370..30671346,2	MCF-7	breast:
10	chr16:30534557..30548684-chr16:30561877..30572653,49	MCF-7	breast:
11	chr16:30544371..30547496-chr16:30661598..30664666,3	K562	blood:
12	chr16:30545877..30546777-chr16:30569372..30569939,2	MCF-7	breast:
13	chr16:30544993..30547961-chr16:30709430..30711142,2	MCF-7	breast:
14	chr16:30454223..30458795-chr16:30544992..30549263,8	K562	blood:
15	chr16:30545394..30548849-chr16:30597035..30599710,5	K562	blood:
16	chr16:30440428..30442526-chr16:30544936..30546517,2	K562	blood:
17	chr16:30543696..30550338-chr16:30595198..30599305,8	MCF-7	breast:
18	chr16:30440316..30443197-chr16:30545164..30548518,4	MCF-7	breast:
19	chr16:30454856..30459511-chr16:30543910..30548861,10	K562	blood:
20	chr16:30439652..30442096-chr16:30544594..30547144,2	MCF-7	breast:
21	chr16:30455846..30458629-chr16:30545743..30547752,2	MCF-7	breast:
22	chr16:30541481..30548892-chr16:30595486..30600580,13	MCF-7	breast:
23	chr16:30545465..30548885-chr16:30620195..30623109,3	MCF-7	breast:
24	chr16:30453263..30460635-chr16:30534974..30549190,40	MCF-7	breast:
25	chr16:30545719..30548048-chr16:30583510..30586476,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235560	TF binding region
ENSG00000229809	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000080603	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3432040	chr16:30545881-30569546	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30544400-30546200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr16:30544600-30546400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr16:30544600-30546400	Active TSS	Osteobl	bone
4	chr16:30544600-30547200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr16:30544600-30547200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:30544600-30547600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:30544800-30546600	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr16:30544800-30546800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:30544800-30547400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr16:30544800-30547400	Active TSS	Gastric	stomach
11	chr16:30544800-30547600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr16:30544800-30547600	Active TSS	Fetal Kidney	kidney
13	chr16:30544800-30547800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:30544800-30547800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:30545000-30546000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr16:30545000-30546000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:30545000-30546000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr16:30545000-30546200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr16:30545000-30546200	Flanking Active TSS	HMEC	breast
20	chr16:30545000-30546600	Bivalent/Poised TSS	HepG2	liver
21	chr16:30545000-30546800	Active TSS	Duodenum Mucosa	Duodenum
22	chr16:30545000-30547200	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr16:30545000-30547200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr16:30545000-30547200	Active TSS	Pancreas	Pancrea
25	chr16:30545000-30547200	Active TSS	GM12878-XiMat	blood
26	chr16:30545000-30547200	Active TSS	Hela-S3	cervix
27	chr16:30545000-30547400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:30545200-30546000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr16:30545200-30546000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr16:30545200-30546200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:30545200-30546200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:30545200-30546200	Flanking Active TSS	Colonic Mucosa	Colon
33	chr16:30545200-30546200	Flanking Active TSS	Placenta	Placenta
34	chr16:30545200-30546600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:30545200-30546600	Active TSS	A549	lung
36	chr16:30545200-30546800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:30545200-30546800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr16:30545200-30547200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr16:30545200-30547200	Active TSS	H1 Cell Line	embryonic stem cell
40	chr16:30545200-30547200	Active TSS	Aorta	Aorta
41	chr16:30545200-30547200	Active TSS	Ovary	ovary
42	chr16:30545200-30547400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:30545200-30547400	Active TSS	Fetal Brain Female	brain
44	chr16:30545200-30547400	Active TSS	Psoas Muscle	Psoas
45	chr16:30545200-30547400	Active TSS	Small Intestine	intestine
46	chr16:30545200-30547400	Active TSS	HSMMtube	muscle
47	chr16:30545200-30547400	Flanking Active TSS	HUVEC	blood vessel
48	chr16:30545200-30547600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:30545200-30547600	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr16:30545200-30547600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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