Variant report

Variant	rs576130741
Chromosome Location	chr16:30547284-30547285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:334)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30547026-30547352	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr16:30545378-30547485	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr16:30545526-30547407	GM19099	blood:	n/a	n/a
4	CTCF	chr16:30547094-30547301	Kidney_OC	kidney:	n/a	n/a
5	RAD21	chr16:30546872-30547445	H1-hESC	embryonic stem cell:	n/a	chr16:30547185-30547199
6	CTCF	chr16:30547140-30547290	GM12872	blood:	n/a	n/a
7	RCOR1	chr16:30547051-30547544	K562	blood:	n/a	n/a
8	CTCF	chr16:30546989-30547385	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:30546202-30547434	K562	blood:	n/a	n/a
10	MXI1	chr16:30545989-30547304	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr16:30547096-30547288	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr16:30547077-30547306	NHEK	skin:	n/a	n/a
13	ATF2	chr16:30546979-30547452	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:30537047-30547480	HepG2	liver:	n/a	n/a
15	POLR2A	chr16:30546989-30547478	GM12878	blood:	n/a	n/a
16	POLR2A	chr16:30546941-30547550	ECC-1	luminal epithelium:	n/a	n/a
17	FOXM1	chr16:30546016-30547595	GM12878	blood:	n/a	n/a
18	POLR2A	chr16:30545516-30547300	SK-N-SH	brain:	n/a	n/a
19	HSF1	chr16:30546992-30547339	HepG2	liver:	n/a	chr16:30547132-30547148 chr16:30547133-30547145 chr16:30547131-30547146
20	MYC	chr16:30547077-30547306	Hela-S3	cervix:	n/a	chr16:30547147-30547157
21	POLR2A	chr16:30545377-30547476	Hela-S3	cervix:	n/a	n/a
22	GTF2B	chr16:30547021-30547289	K562	blood:	n/a	n/a
23	POLR2A	chr16:30545731-30547295	HepG2	liver:	n/a	n/a
24	CTCF	chr16:30546967-30547397	MCF-7	breast:	n/a	n/a
25	POLR2A	chr16:30545540-30547380	MCF10A-Er-Src	breast:	n/a	n/a
26	USF1	chr16:30547054-30547568	K562	blood:	n/a	n/a
27	MAX	chr16:30547002-30547571	K562	blood:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
28	MAX	chr16:30545663-30547523	Hela-S3	cervix:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
29	RAD21	chr16:30546939-30547406	MCF-7	breast:	n/a	chr16:30547185-30547199
30	POLR2A	chr16:30545715-30547313	MCF-7	breast:	n/a	n/a
31	TAF1	chr16:30545324-30547329	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF3	chr16:30547032-30547497	K562	blood:	n/a	n/a
33	REST	chr16:30545623-30547398	H1-neurons	neurons:	n/a	n/a
34	YY1	chr16:30546682-30547558	GM12878	blood:	n/a	chr16:30547075-30547083
35	CTCF	chr16:30547140-30547290	GM12873	blood:	n/a	n/a
36	RAD21	chr16:30546797-30547367	H1-hESC	embryonic stem cell:	n/a	chr16:30547185-30547199
37	MYC	chr16:30546196-30547552	K562	blood:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
38	POLR2A	chr16:30547032-30547351	GM18951	blood:	n/a	n/a
39	REST	chr16:30546983-30547316	K562	blood:	n/a	n/a
40	CTCF	chr16:30547160-30547310	GM12866	blood:	n/a	n/a
41	CTCF	chr16:30547028-30547348	IMR90	lung:	n/a	n/a
42	POLR2A	chr16:30545082-30547574	K562	blood:	n/a	n/a
43	ZMIZ1	chr16:30546846-30547410	K562	blood:	n/a	n/a
44	CTCF	chr16:30547067-30547321	K562	blood:	n/a	n/a
45	MYC	chr16:30547003-30547415	Hela-S3	cervix:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
46	PML	chr16:30546993-30547382	GM12878	blood:	n/a	n/a
47	POLR2A	chr16:30547270-30547412	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr16:30547009-30547347	HCT-116	colon:	n/a	n/a
49	TAF1	chr16:30546976-30547511	K562	blood:	n/a	n/a
50	REST	chr16:30547063-30547313	SK-N-SH	brain:	n/a	n/a

No data

(count:26 , 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	chr16:30460806..30461674-chr16:30546744..30547629,4	MCF-7	breast:
4	chr16:30545798..30549380-chr16:30578344..30585176,6	K562	blood:
5	chr16:30545944..30548930-chr16:30568116..30571083,5	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	chr16:30005844..30008552-chr16:30546352..30548283,2	K562	blood:
12	chr16:30544371..30547496-chr16:30661598..30664666,3	K562	blood:
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	chr16:30543696..30550338-chr16:30595198..30599305,8	MCF-7	breast:
17	chr16:30545950..30548016-chr16:30593866..30595434,2	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	chr16:30545917..30548270-chr16:30592742..30594990,2	K562	blood:
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	chr16:30545977..30548808-chr16:30568240..30572636,5	K562	blood:
25	chr16:30453263..30460635-chr16:30534974..30549190,40	MCF-7	breast:
26	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	chr16:30547139-30547520	ENSG00000235560.3

No data

Variant related genes	Relation type
ENSG00000261459	TF binding region
ZNF747	TF binding region
ENSG00000260869	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000149929	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000169592	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	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
5	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
6	nsv977958	chr16:30547064-30550984	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30544600-30547600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:30544800-30547400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr16:30544800-30547400	Active TSS	Gastric	stomach
4	chr16:30544800-30547600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr16:30544800-30547600	Active TSS	Fetal Kidney	kidney
6	chr16:30544800-30547800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:30544800-30547800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:30545000-30547400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:30545200-30547400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr16:30545200-30547400	Active TSS	Fetal Brain Female	brain
11	chr16:30545200-30547400	Active TSS	Psoas Muscle	Psoas
12	chr16:30545200-30547400	Active TSS	Small Intestine	intestine
13	chr16:30545200-30547400	Active TSS	HSMMtube	muscle
14	chr16:30545200-30547400	Flanking Active TSS	HUVEC	blood vessel
15	chr16:30545200-30547600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:30545200-30547600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr16:30545200-30547600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:30545200-30547800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr16:30545200-30547800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:30545200-30547800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:30545400-30547400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:30545400-30547600	Active TSS	Esophagus	oesophagus
23	chr16:30545600-30547400	Active TSS	Thymus	Thymus
24	chr16:30545800-30547600	Flanking Active TSS	K562	blood
25	chr16:30546400-30547400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:30546400-30547400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr16:30546400-30547400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr16:30546400-30547400	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr16:30546400-30547600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:30546400-30547600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:30546400-30547600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr16:30546400-30547600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr16:30546400-30547600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr16:30546400-30547600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr16:30546400-30547600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:30546400-30547600	Flanking Active TSS	Fetal Thymus	thymus
37	chr16:30546400-30547600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr16:30546400-30547600	Flanking Active TSS	Osteobl	bone
39	chr16:30546400-30547800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr16:30546400-30547800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr16:30546600-30547400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr16:30546600-30547400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr16:30546600-30547400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr16:30546600-30547400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr16:30546600-30547400	Flanking Active TSS	Fetal Heart	heart
46	chr16:30546600-30547400	Flanking Active TSS	Placenta	Placenta
47	chr16:30546600-30547400	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr16:30546600-30547400	Flanking Active TSS	NH-A	brain
49	chr16:30546600-30547600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr16:30546600-30547600	Flanking Active TSS	Primary B cells from cord blood	blood

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