Variant report

Variant	rs56090000
Chromosome Location	chr16:70333005-70333006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:387)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr16:70332916-70333249	K562	blood:	n/a	chr16:70333077-70333086 chr16:70333077-70333086
2	BRCA1	chr16:70332898-70333321	HepG2	liver:	n/a	chr16:70333004-70333011
3	TAF1	chr16:70332821-70333372	GM12892	blood:	n/a	n/a
4	POLR2A	chr16:70332812-70333267	GM12891	blood:	n/a	n/a
5	POLR2A	chr16:70332825-70333351	Hela-S3	cervix:	n/a	n/a
6	PAX5	chr16:70332891-70333326	GM12878	blood:	n/a	n/a
7	REST	chr16:70332373-70334162	H1-neurons	neurons:	n/a	chr16:70333108-70333121
8	HCFC1	chr16:70332865-70333265	K562	blood:	n/a	n/a
9	POLR2A	chr16:70332755-70333554	GM18505	blood:	n/a	n/a
10	POLR2A	chr16:70332776-70333686	GM12878	blood:	n/a	n/a
11	TAF1	chr16:70332845-70333298	GM12892	blood:	n/a	n/a
12	MAX	chr16:70332867-70333470	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr16:70332877-70333513	H1-hESC	embryonic stem cell:	n/a	n/a
14	PML	chr16:70332775-70333557	MCF-7	breast:	n/a	n/a
15	POLR2A	chr16:70332414-70333743	HepG2	liver:	n/a	n/a
16	WRNIP1	chr16:70332679-70333131	GM12878	blood:	n/a	n/a
17	TAF1	chr16:70332790-70333414	ECC-1	luminal epithelium:	n/a	n/a
18	ELF1	chr16:70332811-70333261	A549	lung:	n/a	n/a
19	GABPA	chr16:70332840-70333509	SK-N-SH	brain:	n/a	n/a
20	RCOR1	chr16:70332961-70333828	HepG2	liver:	n/a	n/a
21	GABPA	chr16:70332778-70333664	MCF-7	breast:	n/a	n/a
22	HNF4A	chr16:70332945-70333616	HepG2	liver:	n/a	chr16:70333278-70333290 chr16:70333383-70333398
23	POLR2A	chr16:70332833-70333329	SK-N-MC	brain:	n/a	n/a
24	CHD2	chr16:70332964-70333581	HepG2	liver:	n/a	n/a
25	GTF2F1	chr16:70332738-70333551	Hela-S3	cervix:	n/a	n/a
26	YY1	chr16:70332930-70333384	GM12892	blood:	n/a	n/a
27	E2F6	chr16:70332938-70333343	K562	blood:	n/a	n/a
28	CUX1	chr16:70332869-70333167	K562	blood:	n/a	n/a
29	GABPA	chr16:70332818-70333521	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr16:70332769-70333323	PANC-1	pancreas:	n/a	n/a
31	MYC	chr16:70332780-70333585	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr16:70332997-70333057	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr16:70332819-70333409	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr16:70332792-70333427	U87	brain:	n/a	n/a
35	MYC	chr16:70332956-70333440	MCF-7	breast:	n/a	n/a
36	POLR2A	chr16:70332793-70333521	HL-60	blood:	n/a	n/a
37	POLR2A	chr16:70332796-70333344	HEK293	kidney:	n/a	n/a
38	BACH1	chr16:70332875-70333372	H1-hESC	embryonic stem cell:	n/a	n/a
39	BHLHE40	chr16:70332905-70333569	K562	blood:	n/a	n/a
40	CTCF	chr16:70332980-70333130	GM12872	blood:	n/a	n/a
41	POLR2A	chr16:70332776-70333437	Hela-S3	cervix:	n/a	n/a
42	MYBL2	chr16:70332491-70333886	HepG2	liver:	n/a	n/a
43	TEAD4	chr16:70332754-70333806	HepG2	liver:	n/a	n/a
44	POLR2A	chr16:70332798-70333383	GM12891	blood:	n/a	n/a
45	POLR2A	chr16:70332795-70333441	GM18526	blood:	n/a	n/a
46	POLR2A	chr16:70332648-70333725	GM12878	blood:	n/a	n/a
47	POLR2A	chr16:70332692-70333713	GM12891	blood:	n/a	n/a
48	REST	chr16:70332887-70333789	H1-neurons	neurons:	n/a	chr16:70333108-70333121
49	POLR2A	chr16:70332765-70333942	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr16:70332499-70333758	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70332992-70333042	ovcar-3	ovarian:	n/a
2	chr16:70332992-70333042	GM12892	blood:	n/a
3	chr16:70332992-70333042	HRCEpiC	kidney:	n/a
4	chr16:70332992-70333042	GM06990	blood:	n/a
5	chr16:70332992-70333042	HMEC	breast:	n/a
6	chr16:70332992-70333042	Hepatocyte	liver:	n/a
7	chr16:70332992-70333042	Hela-S3	cervix:	n/a
8	chr16:70332992-70333042	HRPEpiC	eye:	n/a
9	chr16:70332992-70333042	HRE	kidney:	n/a
10	chr16:70332992-70333042	ProgFib	skin:	n/a
11	chr16:70332992-70333042	PANC-1	pancreas:	n/a
12	chr16:70332992-70333042	HCF	heart:	n/a
13	chr16:70332992-70333042	SAEC	small airway:	n/a
14	chr16:70332992-70333042	HCM	heart:	n/a
15	chr16:70332992-70333042	HEK293	kidney:	embryo
16	chr16:70332992-70333042	T-47D	breast:	n/a
17	chr16:70332992-70333042	HAEpiC	amniotic membrane:	n/a
18	chr16:70332992-70333042	AG10803	skin:	n/a
19	chr16:70332992-70333042	PrEC	prostate:	n/a
20	chr16:70332992-70333042	HL-60	blood:	n/a
21	chr16:70332992-70333042	AG09309	skin:	n/a
22	chr16:70332992-70333042	ECC-1	luminal epithelium:	n/a
23	chr16:70332992-70333042	NT2-D1	testis:	n/a
24	chr16:70332992-70333042	SKMC	muscle:	n/a
25	chr16:70332992-70333042	PFSK-1	brain:	n/a
26	chr16:70332992-70333042	HCPEpiC	choroid plexus:	n/a
27	chr16:70332992-70333042	GM12891	blood:	n/a
28	chr16:70332992-70333042	NHBE	bronchial:	n/a
29	chr16:70332992-70333042	AG09319	gingival:	n/a
30	chr16:70332992-70333042	Jurkat	blood:	n/a
31	chr16:70332992-70333042	SK-N-SH_RA	brain:	n/a
32	chr16:70332992-70333042	HUVEC	blood vessel:	n/a
33	chr16:70332992-70333042	MCF-7	breast:	n/a
34	chr16:70332992-70333042	CMK	blood:	n/a
35	chr16:70332992-70333042	A549	lung:	n/a
36	chr16:70332992-70333042	HPAEpiC	pulmonary alveolar:	n/a
37	chr16:70332992-70333042	AG04450	lung:	fetal
38	chr16:70332992-70333042	AoSMC	blood vessel:	n/a
39	chr16:70332992-70333042	GM12878	blood:	n/a
40	chr16:70332992-70333042	HEEpiC	esophagus:	n/a
41	chr16:70332992-70333042	AG04449	skin:	fetal
42	chr16:70332992-70333042	BJ	skin:	n/a
43	chr16:70332992-70333042	NH-A	brain:	n/a
44	chr16:70332992-70333042	RPTEC	kidney:	n/a
45	chr16:70332992-70333042	GM19239	blood:	n/a
46	chr16:70332992-70333042	BE2_C	brain:	n/a
47	chr16:70332992-70333042	HNPCEpiC	eye:	n/a
48	chr16:70332992-70333042	H1-hESC	embryonic stem cell:	embryo
49	chr16:70332992-70333042	HepG2	liver:	n/a
50	chr16:70332992-70333042	NHDF-neo	bronchial:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70326812..70331019-chr16:70331790..70334670,4	MCF-7	breast:
2	chr16:70321820..70325241-chr16:70331601..70337689,10	MCF-7	breast:
3	chr16:70321807..70326700-chr16:70327142..70336316,14	MCF-7	breast:
4	chr16:70332608..70333198-chr5:52285135..52286085,2	Hela-S3	cervix:
5	chr16:70284511..70286776-chr16:70330314..70334173,3	MCF-7	breast:
6	chr16:70332853..70335232-chr16:70378695..70381623,2	K562	blood:
7	chr16:70326803..70329805-chr16:70331309..70336594,5	K562	blood:
8	chr16:70332912..70333612-chr3:149530099..149530917,2	Hela-S3	cervix:
9	chr16:70320811..70326767-chr16:70331299..70339483,12	K562	blood:

No data

Variant related genes	Relation type
DDX19B	TF binding region
ENSG00000260537	TF binding region
ENSG00000260537	CpG island
DDX19B	CpG island
ENSG00000168872	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000082996	Chromatin interaction
ENSG00000223496	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000164171	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs11537667	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859191	0.81[AMR][1000 genomes]
rs11859257	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859730	0.90[AMR][1000 genomes]
rs11859827	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860870	0.97[AFR][1000 genomes]
rs11860922	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11861097	0.81[AMR][1000 genomes]
rs11862053	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11862150	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11862188	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11866378	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11866451	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970147	0.85[AFR][1000 genomes]
rs16970361	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970609	0.98[AFR][1000 genomes]
rs2869156	1.00[AMR][1000 genomes]
rs3972037	0.89[AMR][1000 genomes]
rs3972075	0.90[AMR][1000 genomes]
rs55657328	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55805938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55819743	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55936739	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55963712	0.81[AMR][1000 genomes]
rs55965002	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55971559	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56043981	0.96[AFR][1000 genomes]
rs56051513	0.90[AMR][1000 genomes]
rs56096542	0.93[AFR][1000 genomes]
rs56217164	0.98[AFR][1000 genomes]
rs56234537	0.98[AFR][1000 genomes]
rs57279408	0.98[AFR][1000 genomes]
rs57320283	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57422630	0.85[AFR][1000 genomes]
rs57623576	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58055772	0.85[AFR][1000 genomes]
rs58131227	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58319566	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58328210	0.88[AFR][1000 genomes]
rs59384897	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59612351	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59769732	1.00[AMR][1000 genomes]
rs59791510	0.96[AFR][1000 genomes]
rs59849898	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59928915	0.88[AFR][1000 genomes]
rs60103946	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60426209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60463946	1.00[AMR][1000 genomes]
rs60523557	0.96[AFR][1000 genomes]
rs60567469	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60841206	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61172065	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61391917	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61594809	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499307	0.81[AMR][1000 genomes]
rs6499309	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7184248	0.93[AFR][1000 genomes]
rs7185665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7186024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7189535	0.81[AMR][1000 genomes]
rs7190921	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195567	0.96[AFR][1000 genomes]
rs7198871	0.81[AMR][1000 genomes]
rs7204800	0.96[AFR][1000 genomes]
rs7205871	0.93[AFR][1000 genomes]
rs7205990	0.85[AFR][1000 genomes]
rs74024172	0.90[AMR][1000 genomes]
rs74024176	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024177	1.00[AMR][1000 genomes]
rs74024180	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024182	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024183	0.81[AMR][1000 genomes]
rs74024184	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024185	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024191	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024193	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024196	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024199	0.96[AFR][1000 genomes]
rs74024200	0.96[AFR][1000 genomes]
rs8044699	0.90[AMR][1000 genomes]
rs8045571	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045769	0.90[AMR][1000 genomes]
rs8046280	0.91[AFR][1000 genomes]
rs8046662	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051869	0.88[AFR][1000 genomes]
rs8053040	0.96[AFR][1000 genomes]
rs8055675	0.81[AMR][1000 genomes]
rs8056196	0.81[AMR][1000 genomes]
rs8063749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv960356	chr16:70318585-70339325	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
5	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70332400-70333400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr16:70332400-70333600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:70332400-70334000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:70332400-70334000	Active TSS	Colonic Mucosa	Colon
5	chr16:70332400-70334000	Active TSS	Fetal Kidney	kidney
6	chr16:70332400-70334000	Active TSS	HSMM	muscle
7	chr16:70332400-70334000	Active TSS	NHDF-Ad	bronchial
8	chr16:70332400-70334200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr16:70332400-70334200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr16:70332600-70333200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr16:70332600-70333200	Flanking Active TSS	HMEC	breast
12	chr16:70332600-70333400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr16:70332600-70333600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:70332600-70333600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:70332600-70333800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr16:70332600-70333800	Active TSS	Primary B cells from cord blood	blood
17	chr16:70332600-70333800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:70332600-70333800	Active TSS	Aorta	Aorta
19	chr16:70332600-70334000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr16:70332600-70334000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:70332600-70334000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr16:70332600-70334000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr16:70332600-70334000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:70332600-70334000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr16:70332600-70334000	Active TSS	Brain Germinal Matrix	brain
26	chr16:70332600-70334000	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr16:70332600-70334000	Active TSS	Fetal Muscle Trunk	muscle
28	chr16:70332600-70334000	Active TSS	Right Ventricle	heart
29	chr16:70332600-70334000	Active TSS	A549	lung
30	chr16:70332600-70334200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr16:70332600-70334200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr16:70332600-70334200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr16:70332600-70334400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr16:70332600-70334600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr16:70332800-70333200	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr16:70332800-70333200	Active TSS	Primary hematopoietic stem cells	blood
37	chr16:70332800-70333200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:70332800-70333200	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr16:70332800-70333400	Active TSS	Liver	Liver
40	chr16:70332800-70333400	Active TSS	Stomach Smooth Muscle	stomach
41	chr16:70332800-70333600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:70332800-70333600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:70332800-70333600	Active TSS	Muscle Satellite Cultured Cells	--
44	chr16:70332800-70333600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr16:70332800-70333600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr16:70332800-70333600	Active TSS	Brain Hippocampus Middle	brain
47	chr16:70332800-70333600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:70332800-70333600	Active TSS	Fetal Muscle Leg	muscle
49	chr16:70332800-70333600	Active TSS	Placenta	Placenta
50	chr16:70332800-70333600	Active TSS	Pancreas	Pancrea

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