Variant report

Variant	rs191583104
Chromosome Location	chr16:30546307-30546308
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:507)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	RXRA	chr16:30545918-30546542	HepG2	liver:	n/a	chr16:30546198-30546212 chr16:30546198-30546211 chr16:30546196-30546212 chr16:30546194-30546214 chr16:30546198-30546211 chr16:30546198-30546211
4	HDAC2	chr16:30545836-30546815	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:30545269-30546761	MCF-7	breast:	n/a	n/a
6	POLR2A	chr16:30546202-30547434	K562	blood:	n/a	n/a
7	GTF2F1	chr16:30546216-30546563	K562	blood:	n/a	n/a
8	E2F6	chr16:30546260-30546742	K562	blood:	n/a	n/a
9	MXI1	chr16:30545989-30547304	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr16:30546215-30546664	GM12891	blood:	n/a	n/a
11	PML	chr16:30546167-30546920	K562	blood:	n/a	n/a
12	TAF1	chr16:30545323-30546591	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:30545471-30546702	PANC-1	pancreas:	n/a	n/a
14	REST	chr16:30546198-30546516	K562	blood:	n/a	n/a
15	ELF1	chr16:30545882-30546809	A549	lung:	n/a	chr16:30546180-30546189
16	SRF	chr16:30545851-30546816	MCF-7	breast:	n/a	n/a
17	POLR2A	chr16:30537047-30547480	HepG2	liver:	n/a	n/a
18	EGR1	chr16:30545951-30546656	ECC-1	luminal epithelium:	n/a	chr16:30546331-30546340 chr16:30546245-30546258 chr16:30546245-30546258
19	PAX5	chr16:30545781-30546539	GM12892	blood:	n/a	chr16:30546246-30546255
20	POLR2A	chr16:30546295-30546518	A549	lung:	n/a	n/a
21	TBL1XR1	chr16:30546014-30546595	K562	blood:	n/a	n/a
22	ZNF384	chr16:30546232-30546448	K562	blood:	n/a	n/a
23	FOXM1	chr16:30546016-30547595	GM12878	blood:	n/a	n/a
24	POLR2A	chr16:30545516-30547300	SK-N-SH	brain:	n/a	n/a
25	ELK1	chr16:30545990-30546778	GM12878	blood:	n/a	n/a
26	TCF3	chr16:30546250-30546459	GM12878	blood:	n/a	n/a
27	POLR2A	chr16:30545684-30546775	PANC-1	pancreas:	n/a	n/a
28	TAF1	chr16:30545687-30546748	A549	lung:	n/a	n/a
29	POLR2A	chr16:30545377-30547476	Hela-S3	cervix:	n/a	n/a
30	NRF1	chr16:30546138-30546528	H1-hESC	embryonic stem cell:	n/a	chr16:30546244-30546253 chr16:30546327-30546341 chr16:30546329-30546340 chr16:30546242-30546251 chr16:30546330-30546341
31	MAFF	chr16:30546181-30546307	HepG2	liver:	n/a	n/a
32	EP300	chr16:30546064-30546443	HepG2	liver:	n/a	n/a
33	MAFK	chr16:30546226-30546457	HepG2	liver:	n/a	n/a
34	EGR1	chr16:30545995-30546656	MCF-7	breast:	n/a	chr16:30546331-30546340 chr16:30546245-30546258 chr16:30546245-30546258
35	POLR2A	chr16:30546227-30546707	K562	blood:	n/a	n/a
36	POLR2A	chr16:30545731-30547295	HepG2	liver:	n/a	n/a
37	POLR2A	chr16:30545540-30547380	MCF10A-Er-Src	breast:	n/a	n/a
38	RCOR1	chr16:30546007-30546435	K562	blood:	n/a	n/a
39	PAX5	chr16:30546241-30546502	GM12892	blood:	n/a	chr16:30546246-30546255
40	RFX5	chr16:30545973-30546782	Hela-S3	cervix:	n/a	n/a
41	MAX	chr16:30545663-30547523	Hela-S3	cervix:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
42	ETS1	chr16:30545893-30546688	A549	lung:	n/a	n/a
43	POLR2A	chr16:30545715-30547313	MCF-7	breast:	n/a	n/a
44	TAF1	chr16:30545324-30547329	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPD	chr16:30546218-30546893	K562	blood:	n/a	n/a
46	REST	chr16:30545623-30547398	H1-neurons	neurons:	n/a	n/a
47	USF1	chr16:30546166-30546420	SK-N-SH_RA	brain:	n/a	n/a
48	CHD2	chr16:30546304-30546400	K562	blood:	n/a	n/a
49	EGR1	chr16:30545789-30546797	HCT-116	colon:	n/a	chr16:30546331-30546340 chr16:30546245-30546258 chr16:30546245-30546258
50	GABPA	chr16:30545834-30546801	A549	lung:	n/a	chr16:30546244-30546253 chr16:30546327-30546341 chr16:30546242-30546251 chr16:30546330-30546341

No data

(count:32 , 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	chr16:30545890..30546725-chr16:30596237..30597056,2	MCF-7	breast:
5	chr16:30545798..30549380-chr16:30578344..30585176,6	K562	blood:
6	chr16:30545944..30548930-chr16:30568116..30571083,5	K562	blood:
7	chr16:30541129..30548783-chr16:30576543..30583587,16	MCF-7	breast:
8	chr16:30544664..30548849-chr16:30597277..30601099,4	K562	blood:
9	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
10	chr16:30544819..30547359-chr16:30669370..30671346,2	MCF-7	breast:
11	chr16:30534557..30548684-chr16:30561877..30572653,49	MCF-7	breast:
12	chr16:30544371..30547496-chr16:30661598..30664666,3	K562	blood:
13	chr16:30545877..30546777-chr16:30569372..30569939,2	MCF-7	breast:
14	chr16:30544993..30547961-chr16:30709430..30711142,2	MCF-7	breast:
15	chr16:30454223..30458795-chr16:30544992..30549263,8	K562	blood:
16	chr16:30545394..30548849-chr16:30597035..30599710,5	K562	blood:
17	chr16:30440428..30442526-chr16:30544936..30546517,2	K562	blood:
18	chr16:30543696..30550338-chr16:30595198..30599305,8	MCF-7	breast:
19	chr16:30545950..30548016-chr16:30593866..30595434,2	MCF-7	breast:
20	chr16:30546047..30547051-chr16:30568755..30570523,5	MCF-7	breast:
21	chr16:30440316..30443197-chr16:30545164..30548518,4	MCF-7	breast:
22	chr16:30454856..30459511-chr16:30543910..30548861,10	K562	blood:
23	chr16:30545917..30548270-chr16:30592742..30594990,2	K562	blood:
24	chr16:30439652..30442096-chr16:30544594..30547144,2	MCF-7	breast:
25	chr16:30546152..30546832-chr7:100026182..100026840,2	HCT-116	colon:
26	chr16:30455846..30458629-chr16:30545743..30547752,2	MCF-7	breast:
27	chr16:30541481..30548892-chr16:30595486..30600580,13	MCF-7	breast:
28	chr16:30545465..30548885-chr16:30620195..30623109,3	MCF-7	breast:
29	chr16:30545977..30548808-chr16:30568240..30572636,5	K562	blood:
30	chr16:30546029..30546868-chr2:98279946..98280837,2	Hela-S3	cervix:
31	chr16:30453263..30460635-chr16:30534974..30549190,40	MCF-7	breast:
32	chr16:30545719..30548048-chr16:30583510..30586476,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGAL-2	chr16:30546073-30546801	ENSG00000235560.3

No data

Variant related genes	Relation type
ENSG00000235560	TF binding region
ENSG00000261459	TF binding region
ZNF747	TF binding region
ENSG00000261840	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000228486	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000115073	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000169951	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	chr16:30544600-30546400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr16:30544600-30546400	Active TSS	Osteobl	bone
3	chr16:30544600-30547200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr16:30544600-30547200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:30544600-30547600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:30544800-30546600	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr16:30544800-30546800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:30544800-30547400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr16:30544800-30547400	Active TSS	Gastric	stomach
10	chr16:30544800-30547600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr16:30544800-30547600	Active TSS	Fetal Kidney	kidney
12	chr16:30544800-30547800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:30544800-30547800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:30545000-30546600	Bivalent/Poised TSS	HepG2	liver
15	chr16:30545000-30546800	Active TSS	Duodenum Mucosa	Duodenum
16	chr16:30545000-30547200	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr16:30545000-30547200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr16:30545000-30547200	Active TSS	Pancreas	Pancrea
19	chr16:30545000-30547200	Active TSS	GM12878-XiMat	blood
20	chr16:30545000-30547200	Active TSS	Hela-S3	cervix
21	chr16:30545000-30547400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:30545200-30546600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr16:30545200-30546600	Active TSS	A549	lung
24	chr16:30545200-30546800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:30545200-30546800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr16:30545200-30547200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr16:30545200-30547200	Active TSS	H1 Cell Line	embryonic stem cell
28	chr16:30545200-30547200	Active TSS	Aorta	Aorta
29	chr16:30545200-30547200	Active TSS	Ovary	ovary
30	chr16:30545200-30547400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr16:30545200-30547400	Active TSS	Fetal Brain Female	brain
32	chr16:30545200-30547400	Active TSS	Psoas Muscle	Psoas
33	chr16:30545200-30547400	Active TSS	Small Intestine	intestine
34	chr16:30545200-30547400	Active TSS	HSMMtube	muscle
35	chr16:30545200-30547400	Flanking Active TSS	HUVEC	blood vessel
36	chr16:30545200-30547600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr16:30545200-30547600	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr16:30545200-30547600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:30545200-30547800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr16:30545200-30547800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:30545200-30547800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:30545400-30546400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:30545400-30546400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:30545400-30546400	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr16:30545400-30546400	Active TSS	HSMM	muscle
46	chr16:30545400-30546600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr16:30545400-30546600	Active TSS	Primary T cells from cord blood	blood
48	chr16:30545400-30546600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr16:30545400-30546600	Active TSS	Brain Anterior Caudate	brain
50	chr16:30545400-30546600	Active TSS	Fetal Intestine Large	intestine

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