Variant report

Variant	rs16866156
Chromosome Location	chr2:179058577-179058578
allele	C/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	RAD21	chr2:179058557-179059494	IMR90	lung:	n/a	chr2:179059002-179059012 chr2:179058967-179058977 chr2:179059478-179059492
2	CEBPD	chr2:179058214-179058617	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:179058538-179059525	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:179058566-179058836	Hela-S3	cervix:	n/a	n/a
5	MAX	chr2:179058449-179060229	K562	blood:	n/a	chr2:179060029-179060039
6	CEBPB	chr2:179058054-179058776	HepG2	liver:	n/a	n/a
7	TBP	chr2:179058450-179058824	H1-hESC	embryonic stem cell:	n/a	n/a
8	GATA3	chr2:179058127-179058689	MCF-7	breast:	n/a	n/a
9	MXI1	chr2:179058444-179058597	H1-hESC	embryonic stem cell:	n/a	n/a
10	RCOR1	chr2:179058459-179060393	K562	blood:	n/a	n/a
11	CHD1	chr2:179058524-179059060	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr2:179058511-179058630	ProgFib	skin:	n/a	n/a
13	TCF7L2	chr2:179058284-179059180	Hela-S3	cervix:	n/a	chr2:179058537-179058546
14	GATA2	chr2:179058411-179060151	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr2:179058108-179058756	MCF-7	breast:	n/a	n/a
16	MAX	chr2:179058157-179059462	Hela-S3	cervix:	n/a	n/a
17	GATA3	chr2:179058270-179058578	T-47D	breast:	n/a	n/a
18	TEAD4	chr2:179057847-179058647	HepG2	liver:	n/a	n/a
19	HDAC2	chr2:179058147-179058964	HepG2	liver:	n/a	n/a
20	BHLHE40	chr2:179058252-179058609	HepG2	liver:	n/a	n/a
21	FOXA1	chr2:179058044-179058751	HepG2	liver:	n/a	n/a
22	TCF7L2	chr2:179058383-179058830	PANC-1	pancreas:	n/a	chr2:179058537-179058546
23	SMARCB1	chr2:179058328-179060261	Hela-S3	cervix:	n/a	n/a
24	MAZ	chr2:179058111-179060371	IMR90	lung:	n/a	chr2:179060029-179060039
25	CTBP2	chr2:179058381-179060303	H1-hESC	embryonic stem cell:	n/a	n/a
26	FOXA2	chr2:179058215-179058753	A549	lung:	n/a	n/a
27	CREB1	chr2:179058042-179058792	HepG2	liver:	n/a	n/a
28	ZBTB33	chr2:179058141-179058630	HepG2	liver:	n/a	n/a
29	ZKSCAN1	chr2:179058378-179059344	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr2:179058152-179058608	HepG2	liver:	n/a	n/a
31	E2F4	chr2:179058412-179060224	K562	blood:	n/a	chr2:179059845-179059854 chr2:179059989-179059999 chr2:179059739-179059749
32	ZNF263	chr2:179058255-179060384	HEK293-T-REx	kidney:	n/a	chr2:179060154-179060163
33	POLR2A	chr2:179058298-179060218	Hela-S3	cervix:	n/a	n/a
34	TBL1XR1	chr2:179058566-179059512	K562	blood:	n/a	n/a
35	MXI1	chr2:179058183-179060504	IMR90	lung:	n/a	n/a
36	MAZ	chr2:179058094-179058579	HepG2	liver:	n/a	n/a
37	HA-E2F1	chr2:179058141-179060307	MCF-7	breast:	n/a	chr2:179059845-179059854 chr2:179059117-179059128 chr2:179059090-179059101 chr2:179059989-179059999 chr2:179059739-179059749
38	POLR2A	chr2:179058501-179060192	MCF-7	breast:	n/a	n/a
39	TAF1	chr2:179058506-179060229	ECC-1	luminal epithelium:	n/a	n/a
40	UBTF	chr2:179058297-179060341	K562	blood:	n/a	n/a
41	TBP	chr2:179058421-179058688	Hela-S3	cervix:	n/a	n/a
42	FOXA1	chr2:179058013-179058703	HepG2	liver:	n/a	n/a
43	POLR2A	chr2:179058450-179059583	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr2:179058389-179060267	Hela-S3	cervix:	n/a	n/a
45	CREB1	chr2:179058442-179059535	K562	blood:	n/a	n/a
46	MAX	chr2:179058131-179060223	HepG2	liver:	n/a	chr2:179060029-179060039
47	KAP1	chr2:179058123-179059424	U2OS	brain:	n/a	n/a
48	POLR2A	chr2:179058503-179059465	IMR90	lung:	n/a	n/a
49	MAX	chr2:179058011-179060369	A549	lung:	n/a	chr2:179060029-179060039
50	POLR2A	chr2:179058155-179060475	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:178976797..178977610-chr2:179058506..179059074,2	MCF-7	breast:
2	chr2:178975067..178978289-chr2:179058254..179060575,4	MCF-7	breast:
3	chr2:179057756..179060082-chr2:179314891..179318046,3	MCF-7	breast:
4	chr2:178975761..178978600-chr2:179056476..179059620,3	K562	blood:
5	chr2:178978462..178980467-chr2:179057158..179058664,2	MCF-7	breast:
6	chr2:179056933..179060923-chr2:179315358..179318702,4	MCF-7	breast:

Variant related genes	Relation type
OSBPL6	TF binding region
ENSG00000204311	Chromatin interaction
ENSG00000155636	Chromatin interaction
ENSG00000180228	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10174910	1.00[JPT][hapmap]
rs10205083	1.00[JPT][hapmap]
rs10497475	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11894754	1.00[JPT][hapmap]
rs12996084	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13022619	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs168009	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16866058	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16866088	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16866148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16866151	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16866153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866169	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs170792	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17838554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334107	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs334114	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs334120	0.97[ASN][1000 genomes]
rs334621	1.00[JPT][hapmap]
rs6726222	1.00[JPT][hapmap]
rs71423556	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875453	chr2:179022751-179060313	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875454	chr2:179022751-179066443	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3340257	chr2:179057106-179061404	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv17391	chr2:179058529-179059941	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3409926	chr2:179058531-179061079	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv1821975	chr2:179058577-179059878	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1834988	chr2:179058577-179059878	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1838690	chr2:179058577-179060313	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv1841516	chr2:179058577-179060313	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179058000-179058600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr2:179058000-179058600	Enhancers	Fetal Brain Male	brain
3	chr2:179058000-179058600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr2:179058000-179058600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr2:179058000-179058800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:179058000-179058800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr2:179058000-179058800	Flanking Active TSS	Liver	Liver
8	chr2:179058000-179058800	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr2:179058000-179058800	Flanking Active TSS	NHEK	skin
10	chr2:179058000-179059000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr2:179058000-179060800	Active TSS	NHLF	lung
12	chr2:179058000-179061200	Active TSS	Brain Angular Gyrus	brain
13	chr2:179058200-179058600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:179058200-179058600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr2:179058200-179058600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:179058200-179058600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:179058200-179058600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:179058200-179058600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr2:179058200-179058600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:179058200-179058600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr2:179058200-179058600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:179058200-179058600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr2:179058200-179058600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr2:179058200-179058600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:179058200-179058600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:179058200-179058600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:179058200-179058600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:179058200-179058600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:179058200-179058600	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr2:179058200-179058600	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr2:179058200-179058600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:179058200-179058600	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr2:179058200-179058600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
34	chr2:179058200-179058600	Flanking Active TSS	Fetal Brain Female	brain
35	chr2:179058200-179058600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr2:179058200-179058600	Enhancers	Gastric	stomach
37	chr2:179058200-179058600	Flanking Active TSS	Hela-S3	cervix
38	chr2:179058200-179058600	Flanking Active TSS	HSMMtube	muscle
39	chr2:179058200-179058600	Flanking Active TSS	NH-A	brain
40	chr2:179058200-179058600	Flanking Active TSS	Osteobl	bone
41	chr2:179058200-179058800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
42	chr2:179058200-179058800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:179058200-179058800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:179058200-179058800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr2:179058200-179058800	Bivalent/Poised TSS	Small Intestine	intestine
46	chr2:179058200-179058800	Flanking Active TSS	HMEC	breast
47	chr2:179058200-179059000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr2:179058200-179059000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr2:179058200-179059200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr2:179058200-179059400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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