Variant report

Variant	rs59149508
Chromosome Location	chr16:70557213-70557214
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:350)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:350 , 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	TAF1	chr16:70556862-70558450	GM12878	blood:	n/a	n/a
2	TCF12	chr16:70556782-70558289	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr16:70557154-70558549	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr16:70556996-70558069	Gliobla	brain:	n/a	n/a
5	YY1	chr16:70557107-70558404	GM12892	blood:	n/a	chr16:70557424-70557444
6	POLR2A	chr16:70557122-70558415	U87	brain:	n/a	n/a
7	TAF1	chr16:70556999-70558195	MCF-7	breast:	n/a	n/a
8	IRF1	chr16:70557167-70558480	K562	blood:	n/a	n/a
9	REST	chr16:70557003-70558252	HepG2	liver:	n/a	n/a
10	YY1	chr16:70556723-70558579	SK-N-SH	brain:	n/a	chr16:70557424-70557444
11	PBX3	chr16:70556884-70557930	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr16:70557141-70557983	A549	lung:	n/a	n/a
13	YY1	chr16:70557125-70558326	NT2-D1	testis:	n/a	chr16:70557424-70557444
14	MEF2A	chr16:70557176-70557966	GM12878	blood:	n/a	n/a
15	TAF7	chr16:70557063-70558293	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr16:70557000-70558441	A549	lung:	n/a	chr16:70557424-70557444
17	POLR2A	chr16:70556936-70558615	Raji	blood:	n/a	n/a
18	TEAD4	chr16:70557028-70558078	HepG2	liver:	n/a	n/a
19	SRF	chr16:70557156-70557990	ECC-1	luminal epithelium:	n/a	n/a
20	JUND	chr16:70557139-70558041	A549	lung:	n/a	n/a
21	CEBPB	chr16:70557202-70557919	K562	blood:	n/a	n/a
22	MYC	chr16:70557058-70558575	K562	blood:	n/a	chr16:70558393-70558402 chr16:70558327-70558336
23	TAF1	chr16:70556878-70558697	Hela-S3	cervix:	n/a	n/a
24	ATF3	chr16:70557141-70558103	A549	lung:	n/a	n/a
25	JUN	chr16:70556876-70558308	K562	blood:	n/a	n/a
26	EP300	chr16:70557170-70558320	GM12878	blood:	n/a	chr16:70557452-70557459
27	REST	chr16:70557184-70557553	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr16:70555921-70559826	GM12878	blood:	n/a	n/a
29	SIN3AK20	chr16:70556896-70558630	MCF-7	breast:	n/a	n/a
30	FOSL2	chr16:70557065-70558425	A549	lung:	n/a	n/a
31	POLR2A	chr16:70556975-70559531	HepG2	liver:	n/a	n/a
32	SPI1	chr16:70557204-70557944	HL-60	blood:	n/a	n/a
33	TAF7	chr16:70557142-70557503	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr16:70556813-70558588	HUVEC	blood vessel:	n/a	n/a
35	NFIC	chr16:70557121-70558388	GM12878	blood:	n/a	n/a
36	MTA3	chr16:70556110-70558599	GM12878	blood:	n/a	n/a
37	POLR2A	chr16:70556908-70559399	K562	blood:	n/a	n/a
38	BRCA1	chr16:70556827-70558311	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr16:70556973-70558532	K562	blood:	n/a	n/a
40	BCLAF1	chr16:70557166-70558088	K562	blood:	n/a	chr16:70557451-70557460
41	EP300	chr16:70557182-70557926	HepG2	liver:	n/a	chr16:70557452-70557459
42	TAF1	chr16:70556944-70558646	K562	blood:	n/a	n/a
43	TAF1	chr16:70557185-70557545	HepG2	liver:	n/a	n/a
44	E2F6	chr16:70556998-70557229	K562	blood:	n/a	chr16:70557160-70557167 chr16:70557160-70557167 chr16:70557160-70557167 chr16:70557156-70557170
45	TAF1	chr16:70557139-70558219	GM12892	blood:	n/a	n/a
46	EP300	chr16:70557105-70558364	GM12878	blood:	n/a	chr16:70557452-70557459
47	FOXM1	chr16:70557177-70557967	MCF-7	breast:	n/a	n/a
48	POLR2A	chr16:70556958-70558327	HEK293	kidney:	n/a	n/a
49	RELA	chr16:70556867-70558463	GM19099	blood:	n/a	n/a
50	POLR2A	chr16:70556985-70558338	HCT-116	colon:	n/a	n/a

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70528428..70531300-chr16:70556164..70557770,2	MCF-7	breast:
2	chr16:70557100..70557644-chr3:150481159..150481806,2	Hela-S3	cervix:
3	chr16:70471134..70474092-chr16:70555921..70560516,5	K562	blood:
4	chr16:70321887..70324896-chr16:70556007..70561529,9	K562	blood:
5	chr16:70555931..70558148-chr16:70569788..70572644,2	K562	blood:
6	chr16:70379206..70382816-chr16:70556059..70558953,4	K562	blood:
7	chr16:70456594..70459989-chr16:70556737..70559441,3	K562	blood:
8	chr16:70555634..70562342-chr16:70718026..70723686,6	MCF-7	breast:
9	chr16:70470847..70473025-chr16:70556099..70558287,2	K562	blood:
10	chr16:70540803..70547043-chr16:70555255..70559706,8	MCF-7	breast:
11	chr16:70510287..70517781-chr16:70555054..70559513,7	MCF-7	breast:
12	chr16:70486960..70490351-chr16:70556167..70558867,5	MCF-7	breast:
13	chr16:70429611..70435094-chr16:70556538..70559513,5	K562	blood:
14	chr16:70284505..70286615-chr16:70556732..70559559,2	MCF-7	breast:
15	chr1:153962846..153963692-chr16:70557005..70557950,2	Hela-S3	cervix:
16	chr16:70379447..70384942-chr16:70556059..70561583,7	K562	blood:
17	chr16:70413215..70416772-chr16:70556199..70563150,13	MCF-7	breast:
18	chr16:70323174..70325027-chr16:70556490..70558440,2	MCF-7	breast:
19	chr16:70556775..70558967-chr16:70559981..70563082,4	K562	blood:
20	chr16:70555993..70558227-chr16:70687892..70690787,2	K562	blood:
21	chr16:70507044..70509667-chr16:70557071..70558921,2	MCF-7	breast:
22	chr16:70413177..70417869-chr16:70554702..70561133,15	MCF-7	breast:
23	chr16:70556657..70559301-chr16:70596912..70598548,2	MCF-7	breast:
24	chr16:70321891..70324896-chr16:70556007..70559559,7	K562	blood:
25	chr16:70557116..70557750-chr4:2844961..2845735,2	NB4	blood:
26	chr16:70542244..70550034-chr16:70550058..70558887,15	MCF-7	breast:
27	chr16:70556908..70557873-chr5:150080331..150080945,2	Hela-S3	cervix:
28	chr16:70556717..70559166-chr16:70596632..70598995,2	K562	blood:
29	chr16:70556680..70559302-chr16:70779045..70781738,2	MCF-7	breast:
30	chr16:70285239..70287287-chr16:70556700..70559340,2	K562	blood:
31	chr16:70556330..70559172-chr16:70679219..70681139,2	MCF-7	breast:
32	chr16:70555851..70557474-chr16:70727939..70730719,2	MCF-7	breast:
33	chr16:70515238..70517748-chr16:70555099..70558723,4	MCF-7	breast:

No data

Variant related genes	Relation type
SF3B3	TF binding region
COG4	TF binding region
ENSG00000223496	Chromatin interaction
ENSG00000157368	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000260156	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000086589	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000157353	Chromatin interaction
ENSG00000221066	Chromatin interaction
ENSG00000087274	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000260111	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10163215	1.00[AMR][1000 genomes]
rs10163436	1.00[AMR][1000 genomes]
rs11859014	1.00[AMR][1000 genomes]
rs11866663	1.00[AMR][1000 genomes]
rs16970407	1.00[AMR][1000 genomes]
rs55638004	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55641601	1.00[AMR][1000 genomes]
rs55952842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57770619	1.00[AMR][1000 genomes]
rs57982245	1.00[AMR][1000 genomes]
rs60762222	1.00[AMR][1000 genomes]
rs61077008	1.00[AMR][1000 genomes]
rs7206509	1.00[AMR][1000 genomes]
rs7206831	1.00[AMR][1000 genomes]
rs74024403	1.00[AMR][1000 genomes]
rs74024404	1.00[AMR][1000 genomes]
rs74024407	1.00[AMR][1000 genomes]
rs74024409	1.00[AMR][1000 genomes]
rs74024410	1.00[AMR][1000 genomes]
rs74024416	1.00[AMR][1000 genomes]
rs74026072	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049495	1.00[AMR][1000 genomes]
rs8054087	1.00[AMR][1000 genomes]
rs8057671	1.00[AMR][1000 genomes]
rs8061445	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer 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	30 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	chr16:70556000-70560200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:70556200-70559000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:70556200-70559000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr16:70556200-70559000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:70556200-70559200	Active TSS	NHDF-Ad	bronchial
6	chr16:70556400-70558800	Active TSS	Fetal Muscle Trunk	muscle
7	chr16:70556400-70559000	Active TSS	Left Ventricle	heart
8	chr16:70556400-70559000	Active TSS	Lung	lung
9	chr16:70556400-70560400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr16:70556600-70557400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:70556600-70558400	Active TSS	Stomach Mucosa	stomach
12	chr16:70556600-70558800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:70556600-70558800	Active TSS	Fetal Muscle Leg	muscle
14	chr16:70556600-70558800	Active TSS	Fetal Thymus	thymus
15	chr16:70556600-70559000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr16:70556600-70559000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:70556600-70559000	Active TSS	Fetal Intestine Small	intestine
18	chr16:70556600-70559000	Active TSS	Gastric	stomach
19	chr16:70556600-70559000	Active TSS	Psoas Muscle	Psoas
20	chr16:70556600-70559200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:70556600-70559200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:70556600-70559200	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr16:70556600-70559200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:70556600-70559200	Active TSS	NHLF	lung
25	chr16:70556600-70559400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr16:70556600-70559600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr16:70556600-70559800	Active TSS	H1 Cell Line	embryonic stem cell
28	chr16:70556600-70560200	Active TSS	GM12878-XiMat	blood
29	chr16:70556600-70560400	Active TSS	K562	blood
30	chr16:70556800-70557600	Active TSS	Fetal Heart	heart
31	chr16:70556800-70558800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:70556800-70558800	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr16:70556800-70558800	Active TSS	Aorta	Aorta
34	chr16:70556800-70558800	Active TSS	Fetal Stomach	stomach
35	chr16:70556800-70558800	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr16:70556800-70558800	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr16:70556800-70558800	Active TSS	Small Intestine	intestine
38	chr16:70556800-70558800	Active TSS	Thymus	Thymus
39	chr16:70556800-70559000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:70556800-70559000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:70556800-70559000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr16:70556800-70559000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr16:70556800-70559000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr16:70556800-70559000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr16:70556800-70559000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr16:70556800-70559000	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr16:70556800-70559000	Active TSS	Muscle Satellite Cultured Cells	--
48	chr16:70556800-70559000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr16:70556800-70559000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:70556800-70559000	Active TSS	Brain Angular Gyrus	brain

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