Variant report

Variant	rs72916280
Chromosome Location	chr2:73053341-73053342
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:73052287-73053342	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFIC	chr2:73052789-73053424	HepG2	liver:	n/a	n/a
3	FOS	chr2:73053020-73053391	MCF10A-Er-Src	breast:	n/a	n/a
4	YY1	chr2:73052736-73053345	SK-N-SH_RA	brain:	n/a	chr2:73053014-73053034
5	EBF1	chr2:73052984-73053482	GM12878	blood:	n/a	n/a
6	CREB1	chr2:73052957-73053408	A549	lung:	n/a	n/a
7	CREB1	chr2:73052295-73053602	HepG2	liver:	n/a	n/a
8	TBP	chr2:73052886-73053345	HepG2	liver:	n/a	n/a
9	BRCA1	chr2:73052921-73053410	HepG2	liver:	n/a	n/a
10	CREB1	chr2:73052828-73053436	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr2:73052516-73053402	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr2:73052851-73053358	Hela-S3	cervix:	n/a	n/a
13	MAX	chr2:73052980-73053391	GM12878	blood:	n/a	n/a
14	USF2	chr2:73053289-73053430	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr2:73052713-73053369	ProgFib	skin:	n/a	n/a
16	POLR2A	chr2:73052801-73053396	MCF-7	breast:	n/a	n/a
17	MXI1	chr2:73052496-73053475	HepG2	liver:	n/a	n/a
18	SIX5	chr2:73053033-73053434	K562	blood:	n/a	chr2:73053230-73053239 chr2:73053232-73053241
19	MXI1	chr2:73052958-73053430	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:73052655-73053459	HepG2	liver:	n/a	n/a
21	YY1	chr2:73052814-73053348	HepG2	liver:	n/a	chr2:73053014-73053034
22	CHD2	chr2:73052794-73053386	HepG2	liver:	n/a	n/a
23	YY1	chr2:73052836-73053345	GM12892	blood:	n/a	chr2:73053014-73053034
24	SP1	chr2:73052728-73053651	HCT-116	colon:	n/a	chr2:73053161-73053175 chr2:73053178-73053188 chr2:73052815-73052827 chr2:73053091-73053100 chr2:73053160-73053171 chr2:73053178-73053188
25	TEAD4	chr2:73052500-73053483	ECC-1	luminal epithelium:	n/a	n/a
26	ELF1	chr2:73052970-73053355	K562	blood:	n/a	n/a
27	SP1	chr2:73052878-73053441	HepG2	liver:	n/a	chr2:73053161-73053175 chr2:73053178-73053188 chr2:73053091-73053100 chr2:73053160-73053171 chr2:73053178-73053188
28	MAX	chr2:73052406-73053370	ECC-1	luminal epithelium:	n/a	chr2:73052708-73052718
29	CEBPB	chr2:73052633-73053393	HepG2	liver:	n/a	n/a
30	TCF12	chr2:73052262-73053490	A549	lung:	n/a	n/a
31	SP1	chr2:73052729-73053568	A549	lung:	n/a	chr2:73053161-73053175 chr2:73053178-73053188 chr2:73052815-73052827 chr2:73053091-73053100 chr2:73053160-73053171 chr2:73053178-73053188
32	PML	chr2:73052885-73053429	GM12878	blood:	n/a	n/a
33	STAT3	chr2:73053206-73053404	GM12878	blood:	n/a	n/a
34	YY1	chr2:73052757-73053400	GM12878	blood:	n/a	chr2:73053014-73053034
35	SIX5	chr2:73052879-73053503	A549	lung:	n/a	chr2:73053230-73053239 chr2:73053232-73053241
36	POLR2A	chr2:73052854-73053344	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr2:73052711-73053414	MCF-7	breast:	n/a	n/a
38	POLR2A	chr2:73052438-73053373	H1-neurons	neurons:	n/a	n/a
39	MAX	chr2:73052222-73053591	A549	lung:	n/a	chr2:73052708-73052718
40	CREB1	chr2:73052904-73053472	ECC-1	luminal epithelium:	n/a	n/a
41	CHD2	chr2:73052893-73053407	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr2:73052710-73053410	A549	lung:	n/a	n/a
43	MAFK	chr2:73052910-73053611	Hela-S3	cervix:	n/a	n/a
44	EP300	chr2:73052657-73053446	HepG2	liver:	n/a	chr2:73052825-73052834
45	ETS1	chr2:73052895-73053402	K562	blood:	n/a	chr2:73053229-73053242
46	YY1	chr2:73052568-73053523	A549	lung:	n/a	chr2:73053014-73053034
47	POLR2A	chr2:73052754-73053374	HCT-116	colon:	n/a	n/a
48	ETS1	chr2:73052780-73053600	A549	lung:	n/a	chr2:73053229-73053242
49	SIX5	chr2:73052988-73053426	K562	blood:	n/a	chr2:73053230-73053239 chr2:73053232-73053241
50	RUNX3	chr2:73052846-73053382	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:73053331-73053381	K562	blood:	n/a
2	chr2:73053339-73053389	NB4	blood:	n/a
3	chr2:73053339-73053389	MCF-7	breast:	n/a
4	chr2:73053331-73053381	A549	lung:	n/a
5	chr2:73053339-73053389	NHBE	bronchial:	n/a
6	chr2:73053331-73053381	RPTEC	kidney:	n/a
7	chr2:73053331-73053381	NHDF-neo	bronchial:	n/a
8	chr2:73053331-73053381	BJ	skin:	n/a
9	chr2:73053339-73053389	AoSMC	blood vessel:	n/a
10	chr2:73053339-73053389	HNPCEpiC	eye:	n/a
11	chr2:73053339-73053389	A549	lung:	n/a
12	chr2:73053331-73053381	T-47D	breast:	n/a
13	chr2:73053331-73053381	HRPEpiC	eye:	n/a
14	chr2:73053331-73053381	PFSK-1	brain:	n/a
15	chr2:73053331-73053381	SK-N-MC	brain:	n/a
16	chr2:73053331-73053381	Caco-2	colon:	n/a
17	chr2:73053339-73053389	HRE	kidney:	n/a
18	chr2:73053331-73053381	HCM	heart:	n/a
19	chr2:73053339-73053389	GM12891	blood:	n/a
20	chr2:73053331-73053381	HNPCEpiC	eye:	n/a
21	chr2:73053331-73053381	Hela-S3	cervix:	n/a
22	chr2:73053339-73053389	GM19239	blood:	n/a
23	chr2:73053331-73053381	HepG2	liver:	n/a
24	chr2:73053339-73053389	HCT-116	colon:	n/a
25	chr2:73053331-73053381	BE2_C	brain:	n/a
26	chr2:73053339-73053389	HCF	heart:	n/a
27	chr2:73053339-73053389	AG09309	skin:	n/a
28	chr2:73053339-73053389	NH-A	brain:	n/a
29	chr2:73053331-73053381	SAEC	small airway:	n/a
30	chr2:73053339-73053389	Jurkat	blood:	n/a
31	chr2:73053331-73053381	MCF10A-Er-Src	breast:	n/a
32	chr2:73053331-73053381	HMEC	breast:	n/a
33	chr2:73053331-73053381	HRCEpiC	kidney:	n/a
34	chr2:73053331-73053381	AG04450	lung:	fetal
35	chr2:73053331-73053381	HEEpiC	esophagus:	n/a
36	chr2:73053331-73053381	LNCaP	prostate:	n/a
37	chr2:73053331-73053381	NT2-D1	testis:	n/a
38	chr2:73053339-73053389	K562	blood:	n/a
39	chr2:73053339-73053389	SAEC	small airway:	n/a
40	chr2:73053331-73053381	HUVEC	blood vessel:	n/a
41	chr2:73053339-73053389	SK-N-SH_RA	brain:	n/a
42	chr2:73053331-73053381	U87	brain:	n/a
43	chr2:73053331-73053381	GM06990	blood:	n/a
44	chr2:73053331-73053381	MCF-7	breast:	n/a
45	chr2:73053331-73053381	PANC-1	pancreas:	n/a
46	chr2:73053331-73053381	ovcar-3	ovarian:	n/a
47	chr2:73053339-73053389	PANC-1	pancreas:	n/a
48	chr2:73053331-73053381	GM19239	blood:	n/a
49	chr2:73053339-73053389	Hepatocyte	liver:	n/a
50	chr2:73053339-73053389	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:149857730..149860576-chr2:73051525..73053981,2	MCF-7	breast:

Variant related genes	Relation type
EXOC6B	TF binding region
EXOC6B	CpG island
ENSG00000184260	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184678	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56996879	1.00[EUR][1000 genomes]
rs60292098	1.00[EUR][1000 genomes]
rs61426399	1.00[EUR][1000 genomes]
rs6712130	1.00[EUR][1000 genomes]
rs6753198	1.00[EUR][1000 genomes]
rs72916266	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72918394	1.00[EUR][1000 genomes]
rs72918396	1.00[EUR][1000 genomes]
rs72918397	1.00[EUR][1000 genomes]
rs72918398	1.00[EUR][1000 genomes]
rs72920409	1.00[EUR][1000 genomes]
rs72920414	1.00[EUR][1000 genomes]
rs72920416	1.00[EUR][1000 genomes]
rs7558143	1.00[EUR][1000 genomes]
rs7560421	1.00[EUR][1000 genomes]
rs7593530	1.00[EUR][1000 genomes]
rs7599245	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73051400-73053400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:73051400-73053600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:73051600-73053400	Active TSS	Colonic Mucosa	Colon
4	chr2:73051600-73053600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:73051800-73053400	Active TSS	Left Ventricle	heart
6	chr2:73051800-73053600	Active TSS	Esophagus	oesophagus
7	chr2:73052000-73053400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr2:73052000-73053400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:73052000-73053400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:73052000-73053400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:73052000-73053400	Active TSS	Fetal Intestine Large	intestine
12	chr2:73052000-73053400	Active TSS	Fetal Intestine Small	intestine
13	chr2:73052000-73053400	Active TSS	Pancreas	Pancrea
14	chr2:73052000-73053400	Active TSS	Psoas Muscle	Psoas
15	chr2:73052000-73053600	Active TSS	Brain Angular Gyrus	brain
16	chr2:73052000-73053600	Active TSS	Brain Cingulate Gyrus	brain
17	chr2:73052000-73053600	Active TSS	Stomach Smooth Muscle	stomach
18	chr2:73052200-73053400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:73052200-73053400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr2:73052200-73053400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr2:73052200-73053400	Active TSS	Fetal Stomach	stomach
22	chr2:73052200-73053400	Active TSS	HSMM	muscle
23	chr2:73052200-73053400	Active TSS	NH-A	brain
24	chr2:73052200-73053400	Active TSS	NHDF-Ad	bronchial
25	chr2:73052200-73053600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:73052200-73053600	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr2:73052200-73053600	Active TSS	Brain Germinal Matrix	brain
28	chr2:73052200-73053600	Active TSS	Fetal Lung	lung
29	chr2:73052400-73053400	Active TSS	NHLF	lung
30	chr2:73052400-73053600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:73052400-73053600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:73052400-73053600	Active TSS	Brain Hippocampus Middle	brain
33	chr2:73052400-73053600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr2:73052400-73053600	Active TSS	Rectal Smooth Muscle	rectum
35	chr2:73052400-73053600	Active TSS	Osteobl	bone
36	chr2:73052600-73053400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:73052600-73053400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr2:73052600-73053400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:73052600-73053400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:73052600-73053400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr2:73052600-73053400	Bivalent/Poised TSS	Fetal Brain Female	brain
42	chr2:73052600-73053400	Active TSS	Fetal Muscle Trunk	muscle
43	chr2:73052600-73053400	Active TSS	Fetal Muscle Leg	muscle
44	chr2:73052600-73053400	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr2:73052600-73053600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:73052600-73053600	Active TSS	Duodenum Mucosa	Duodenum
47	chr2:73052800-73053400	Active TSS	Primary B cells from cord blood	blood
48	chr2:73052800-73053400	Active TSS	Primary hematopoietic stem cells	blood
49	chr2:73052800-73053400	Bivalent/Poised TSS	Fetal Thymus	thymus
50	chr2:73052800-73053400	Active TSS	Thymus	Thymus

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