Variant report

Variant	rs16832988
Chromosome Location	chr1:151043226-151043227
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:580)
CpG islands
(count:61)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151042718-151043938	A549	lung:	n/a	n/a
2	HA-E2F1	chr1:151042767-151043451	Hela-S3	cervix:	n/a	chr1:151042962-151042973 chr1:151042962-151042973 chr1:151042961-151042972 chr1:151042959-151042976
3	SMC3	chr1:151043007-151043840	K562	blood:	n/a	chr1:151043691-151043705
4	TAL1	chr1:151042695-151043875	K562	blood:	n/a	n/a
5	MAZ	chr1:151042744-151043885	Hela-S3	cervix:	n/a	n/a
6	MTA3	chr1:151042554-151044152	GM12878	blood:	n/a	n/a
7	PML	chr1:151042465-151044102	GM12878	blood:	n/a	n/a
8	GTF2F1	chr1:151042779-151043548	K562	blood:	n/a	n/a
9	CEBPB	chr1:151042761-151043435	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3AK20	chr1:151042675-151043873	A549	lung:	n/a	n/a
11	MXI1	chr1:151042742-151043823	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr1:151043138-151043798	PANC-1	pancreas:	n/a	n/a
13	TAF1	chr1:151042620-151043881	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr1:151042823-151043564	K562	blood:	n/a	n/a
15	MAX	chr1:151042635-151043971	ECC-1	luminal epithelium:	n/a	n/a
16	RAD21	chr1:151042763-151043953	H1-hESC	embryonic stem cell:	n/a	chr1:151042988-151042998 chr1:151043693-151043706 chr1:151043690-151043709
17	YY1	chr1:151042782-151043921	H1-hESC	embryonic stem cell:	n/a	chr1:151043647-151043658 chr1:151043701-151043710 chr1:151043698-151043707 chr1:151043747-151043758
18	USF2	chr1:151042795-151043431	GM12878	blood:	n/a	n/a
19	BHLHE40	chr1:151042701-151043834	K562	blood:	n/a	n/a
20	CTCF	chr1:151043160-151043310	GM12873	blood:	n/a	n/a
21	CTCF	chr1:151043140-151043290	GM12870	blood:	n/a	n/a
22	YY1	chr1:151042561-151043855	SK-N-SH	brain:	n/a	chr1:151043647-151043658 chr1:151043701-151043710 chr1:151043698-151043707 chr1:151043747-151043758
23	NR3C1	chr1:151042775-151043391	A549	lung:	n/a	n/a
24	CTCF	chr1:151042816-151043916	K562	blood:	n/a	chr1:151043691-151043712 chr1:151042992-151043001 chr1:151043692-151043701 chr1:151043694-151043704 chr1:151043689-151043707 chr1:151043692-151043705 chr1:151043690-151043706 chr1:151043692-151043705
25	RUNX3	chr1:151042659-151043934	GM12878	blood:	n/a	n/a
26	CTCF	chr1:151043180-151043330	HA-sp	spinal cord:	n/a	n/a
27	POLR2A	chr1:151042665-151043886	GM18526	blood:	n/a	n/a
28	EP300	chr1:151042753-151043907	K562	blood:	n/a	chr1:151043698-151043707
29	E2F1	chr1:151042766-151043474	Hela-S3	cervix:	n/a	chr1:151042962-151042973 chr1:151042962-151042973 chr1:151042961-151042972 chr1:151042965-151042973 chr1:151042959-151042976
30	BCLAF1	chr1:151042641-151043923	GM12878	blood:	n/a	chr1:151043699-151043708 chr1:151043679-151043688 chr1:151043037-151043046
31	CTCF	chr1:151043160-151043310	K562	blood:	n/a	n/a
32	IRF4	chr1:151042768-151043317	GM12878	blood:	n/a	n/a
33	YY1	chr1:151042787-151043386	HCT-116	colon:	n/a	n/a
34	TEAD4	chr1:151042564-151043856	K562	blood:	n/a	n/a
35	MAX	chr1:151042644-151044025	MCF-7	breast:	n/a	n/a
36	E2F4	chr1:151042761-151043264	GM12878	blood:	n/a	chr1:151042962-151042973 chr1:151042962-151042973 chr1:151042965-151042973 chr1:151042959-151042976
37	POLR2A	chr1:151042749-151043660	A549	lung:	n/a	n/a
38	POLR2A	chr1:151042668-151043930	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr1:151042599-151043865	GM12891	blood:	n/a	n/a
40	TAF1	chr1:151042794-151043357	PFSK-1	brain:	n/a	n/a
41	CTCF	chr1:151043200-151043350	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr1:151043160-151043310	HRPEpiC	eye:	n/a	n/a
43	POLR2A	chr1:151041429-151044042	PANC-1	pancreas:	n/a	n/a
44	REST	chr1:151042740-151043586	A549	lung:	n/a	n/a
45	CREB1	chr1:151042829-151043574	ECC-1	luminal epithelium:	n/a	n/a
46	MYC	chr1:151042852-151043320	Hela-S3	cervix:	n/a	n/a
47	ZNF143	chr1:151042824-151043857	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr1:151043160-151043310	WERI-Rb-1	eye:	n/a	n/a
49	MAZ	chr1:151042713-151043975	GM12878	blood:	n/a	n/a
50	IRF1	chr1:151042728-151043866	K562	blood:	n/a	chr1:151043457-151043470 chr1:151043458-151043472

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151043197-151043247	AG04449	skin:	fetal
2	chr1:151043197-151043247	HEEpiC	esophagus:	n/a
3	chr1:151043197-151043247	HMEC	breast:	n/a
4	chr1:151043197-151043247	Caco-2	colon:	n/a
5	chr1:151043197-151043247	SK-N-SH_RA	brain:	n/a
6	chr1:151043197-151043247	LNCaP	prostate:	n/a
7	chr1:151043197-151043247	HIPEpiC	eye:	n/a
8	chr1:151043197-151043247	HCM	heart:	n/a
9	chr1:151043197-151043247	AG10803	skin:	n/a
10	chr1:151043197-151043247	AG09319	gingival:	n/a
11	chr1:151043197-151043247	BJ	skin:	n/a
12	chr1:151043197-151043247	BE2_C	brain:	n/a
13	chr1:151043197-151043247	U87	brain:	n/a
14	chr1:151043197-151043247	HNPCEpiC	eye:	n/a
15	chr1:151043197-151043247	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:151043197-151043247	HCF	heart:	n/a
17	chr1:151043197-151043247	ECC-1	luminal epithelium:	n/a
18	chr1:151043197-151043247	HRPEpiC	eye:	n/a
19	chr1:151043197-151043247	PANC-1	pancreas:	n/a
20	chr1:151043197-151043247	HepG2	liver:	n/a
21	chr1:151043197-151043247	AG04450	lung:	fetal
22	chr1:151043197-151043247	SK-N-SH	brain:	n/a
23	chr1:151043197-151043247	MCF-7	breast:	n/a
24	chr1:151043197-151043247	HCT-116	colon:	n/a
25	chr1:151043197-151043247	PrEC	prostate:	n/a
26	chr1:151043197-151043247	T-47D	breast:	n/a
27	chr1:151043197-151043247	NT2-D1	testis:	n/a
28	chr1:151043197-151043247	GM06990	blood:	n/a
29	chr1:151043197-151043247	Hepatocyte	liver:	n/a
30	chr1:151043197-151043247	AG09309	skin:	n/a
31	chr1:151043197-151043247	Jurkat	blood:	n/a
32	chr1:151043197-151043247	HUVEC	blood vessel:	n/a
33	chr1:151043197-151043247	HRE	kidney:	n/a
34	chr1:151043197-151043247	K562	blood:	n/a
35	chr1:151043197-151043247	HCPEpiC	choroid plexus:	n/a
36	chr1:151043197-151043247	NHBE	bronchial:	n/a
37	chr1:151043197-151043247	AoSMC	blood vessel:	n/a
38	chr1:151043197-151043247	IMR90	lung:	fetal
39	chr1:151043197-151043247	HAEpiC	amniotic membrane:	n/a
40	chr1:151043197-151043247	GM12891	blood:	n/a
41	chr1:151043197-151043247	GM12878	blood:	n/a
42	chr1:151043197-151043247	SAEC	small airway:	n/a
43	chr1:151043197-151043247	NHDF-neo	bronchial:	n/a
44	chr1:151043197-151043247	PFSK-1	brain:	n/a
45	chr1:151043197-151043247	A549	lung:	n/a
46	chr1:151043197-151043247	ProgFib	skin:	n/a
47	chr1:151043197-151043247	ovcar-3	ovarian:	n/a
48	chr1:151043197-151043247	SK-N-MC	brain:	n/a
49	chr1:151043197-151043247	SKMC	muscle:	n/a
50	chr1:151043197-151043247	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:150550567..150552845-chr1:151042071..151045056,2	MCF-7	breast:
2	chr1:151043136..151043657-chr3:121379199..121379950,2	NB4	blood:
3	chr1:151042724..151043226-chr1:207924659..207925559,2	HCT-116	colon:
4	chr1:151042356..151044958-chr1:151252271..151256325,4	K562	blood:
5	chr1:150977392..150983338-chr1:151040807..151046211,16	MCF-7	breast:
6	chr1:149856233..149859163-chr1:151041177..151043443,2	MCF-7	breast:
7	chr1:150996741..150997636-chr1:151042895..151043878,5	MCF-7	breast:
8	chr1:68150474..68151377-chr1:151042815..151043553,2	HCT-116	colon:
9	chr1:151042193..151044467-chr1:151761804..151763901,2	MCF-7	breast:
10	chr1:150995604..150998641-chr1:151041475..151044833,5	MCF-7	breast:
11	chr1:150532621..150534705-chr1:151041557..151045135,3	K562	blood:
12	chr1:151042666..151043354-chr11:62609073..62609628,2	Hela-S3	cervix:
13	chr1:150970397..150973154-chr1:151042388..151043902,2	MCF-7	breast:
14	chr1:151042976..151044739-chr1:151252844..151254871,2	K562	blood:
15	chr1:151041073..151043333-chr1:151126816..151129566,2	K562	blood:
16	chr1:150978624..150980808-chr1:151042705..151044650,2	MCF-7	breast:
17	chr1:150996664..150997645-chr1:151043137..151044189,3	MCF-7	breast:
18	chr1:150952337..150955570-chr1:151040233..151043325,3	MCF-7	breast:
19	chr1:151041779..151043840-chr1:151166772..151169795,3	MCF-7	breast:
20	chr1:150978947..150982308-chr1:151041500..151045951,4	K562	blood:
21	chr1:150943930..150948676-chr1:151041268..151044275,5	MCF-7	breast:
22	chr1:151042779..151043609-chr6:26157678..26158524,3	Hela-S3	cervix:
23	chr1:151040998..151044328-chr1:151135769..151140484,5	MCF-7	breast:
24	chr1:151042160..151045059-chr1:151225748..151228568,3	MCF-7	breast:
25	chr1:151042761..151043522-chr2:174829863..174830820,2	Hela-S3	cervix:
26	chr1:144533779..144534373-chr1:151042569..151043561,2	Hela-S3	cervix:
27	chr1:151041683..151045028-chr1:151160226..151163233,4	MCF-7	breast:
28	chr1:150944568..150948169-chr1:151041647..151044581,4	MCF-7	breast:
29	chr1:151040013..151045011-chr1:151111761..151118476,6	MCF-7	breast:
30	chr1:151042151..151045476-chr1:151127754..151130933,3	MCF-7	breast:
31	chr1:151042897..151044564-chr1:151161784..151163721,2	MCF-7	breast:
32	chr1:151042255..151044217-chr1:151136884..151138558,2	MCF-7	breast:
33	chr1:151042679..151043583-chr12:52445059..52445817,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
GABPB2	TF binding region
CDC42SE1	TF binding region
CDC42SE1	CpG island
GABPB2	CpG island
ENSG00000163154	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000172845	Chromatin interaction
ENSG00000117335	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000163159	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143412	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000116717	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000180353	Chromatin interaction
ENSG00000231073	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11800088	1.00[AMR][1000 genomes]
rs11800715	1.00[AMR][1000 genomes]
rs11804061	1.00[AMR][1000 genomes]
rs11804474	1.00[AMR][1000 genomes]
rs11806302	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11809569	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11809979	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11811310	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16832965	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832968	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833008	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833052	0.83[MKK][hapmap];1.00[AMR][1000 genomes]
rs16833054	1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs16833100	1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs16833109	1.00[AMR][1000 genomes]
rs34570433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41445244	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6657146	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 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	chr1:151042200-151043400	Weak transcription	HepG2	liver
2	chr1:151042200-151043600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:151042200-151043800	Active TSS	Adipose Nuclei	Adipose
4	chr1:151042200-151044000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:151042200-151044200	Active TSS	Colon Smooth Muscle	Colon
6	chr1:151042200-151044600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:151042400-151044000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:151042400-151044000	Active TSS	Primary T cells from cord blood	blood
9	chr1:151042400-151044000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr1:151042400-151044000	Active TSS	Fetal Intestine Large	intestine
11	chr1:151042400-151044000	Active TSS	Thymus	Thymus
12	chr1:151042400-151044200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:151042400-151044200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:151042400-151044200	Active TSS	Brain Substantia Nigra	brain
15	chr1:151042400-151044200	Active TSS	Pancreas	Pancrea
16	chr1:151042400-151044400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:151042400-151044600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:151042400-151044600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:151042600-151043400	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr1:151042600-151043600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:151042600-151043600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:151042600-151043600	ZNF genes & repeats	Fetal Brain Male	brain
23	chr1:151042600-151043800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:151042600-151043800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:151042600-151043800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:151042600-151043800	Active TSS	Stomach Mucosa	stomach
27	chr1:151042600-151043800	Active TSS	Stomach Smooth Muscle	stomach
28	chr1:151042600-151044000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr1:151042600-151044000	Active TSS	H1 Cell Line	embryonic stem cell
30	chr1:151042600-151044000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr1:151042600-151044000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr1:151042600-151044000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:151042600-151044000	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr1:151042600-151044000	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr1:151042600-151044000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:151042600-151044000	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr1:151042600-151044000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:151042600-151044000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:151042600-151044000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:151042600-151044000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:151042600-151044000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:151042600-151044000	Active TSS	Esophagus	oesophagus
43	chr1:151042600-151044000	Active TSS	Fetal Stomach	stomach
44	chr1:151042600-151044000	Active TSS	Ovary	ovary
45	chr1:151042600-151044000	Active TSS	Psoas Muscle	Psoas
46	chr1:151042600-151044000	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr1:151042600-151044000	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr1:151042600-151044000	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr1:151042600-151044000	Active TSS	HSMMtube	muscle
50	chr1:151042600-151044200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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