Variant report

Variant	rs16866154
Chromosome Location	chr2:179058362-179058363
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	CEBPD	chr2:179058214-179058617	HepG2	liver:	n/a	n/a
2	ZBTB33	chr2:179058278-179058548	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:179058054-179058776	HepG2	liver:	n/a	n/a
4	RCOR1	chr2:179058190-179058534	HepG2	liver:	n/a	n/a
5	GATA3	chr2:179058127-179058689	MCF-7	breast:	n/a	n/a
6	REST	chr2:179058181-179058555	HepG2	liver:	n/a	n/a
7	NFIC	chr2:179058207-179058561	HepG2	liver:	n/a	n/a
8	TCF7L2	chr2:179058284-179059180	Hela-S3	cervix:	n/a	chr2:179058537-179058546
9	GATA3	chr2:179058108-179058756	MCF-7	breast:	n/a	n/a
10	MAX	chr2:179058157-179059462	Hela-S3	cervix:	n/a	n/a
11	GATA3	chr2:179058270-179058578	T-47D	breast:	n/a	n/a
12	REST	chr2:179058263-179058535	HepG2	liver:	n/a	n/a
13	TEAD4	chr2:179057847-179058647	HepG2	liver:	n/a	n/a
14	HDAC2	chr2:179058147-179058964	HepG2	liver:	n/a	n/a
15	BHLHE40	chr2:179058252-179058609	HepG2	liver:	n/a	n/a
16	CHD2	chr2:179058320-179058460	HepG2	liver:	n/a	n/a
17	FOXA1	chr2:179058044-179058751	HepG2	liver:	n/a	n/a
18	SMARCB1	chr2:179058328-179060261	Hela-S3	cervix:	n/a	n/a
19	CEBPD	chr2:179058191-179058490	HepG2	liver:	n/a	n/a
20	SMC3	chr2:179058287-179058405	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:179058249-179058417	HepG2	liver:	n/a	n/a
22	MAZ	chr2:179058111-179060371	IMR90	lung:	n/a	chr2:179060029-179060039
23	FOXA2	chr2:179058215-179058753	A549	lung:	n/a	n/a
24	CREB1	chr2:179058042-179058792	HepG2	liver:	n/a	n/a
25	ZBTB33	chr2:179058141-179058630	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:179058152-179058608	HepG2	liver:	n/a	n/a
27	ZNF263	chr2:179058255-179060384	HEK293-T-REx	kidney:	n/a	chr2:179060154-179060163
28	POLR2A	chr2:179058298-179060218	Hela-S3	cervix:	n/a	n/a
29	MXI1	chr2:179058183-179060504	IMR90	lung:	n/a	n/a
30	MAZ	chr2:179058094-179058579	HepG2	liver:	n/a	n/a
31	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
32	MAFK	chr2:179058334-179058570	HepG2	liver:	n/a	n/a
33	FOXA1	chr2:179058244-179058497	T-47D	breast:	n/a	n/a
34	UBTF	chr2:179058297-179060341	K562	blood:	n/a	n/a
35	FOXA1	chr2:179058013-179058703	HepG2	liver:	n/a	n/a
36	MAX	chr2:179058131-179060223	HepG2	liver:	n/a	chr2:179060029-179060039
37	KAP1	chr2:179058123-179059424	U2OS	brain:	n/a	n/a
38	MAX	chr2:179058011-179060369	A549	lung:	n/a	chr2:179060029-179060039
39	POLR2A	chr2:179058155-179060475	MCF10A-Er-Src	breast:	n/a	n/a
40	JUND	chr2:179058183-179058601	HepG2	liver:	n/a	n/a
41	FOSL2	chr2:179058099-179058477	A549	lung:	n/a	n/a
42	FOXA2	chr2:179057789-179059308	HepG2	liver:	n/a	n/a
43	RXRA	chr2:179058187-179058558	HepG2	liver:	n/a	n/a
44	FOXA2	chr2:179058160-179058708	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:179058190-179058515	A549	lung:	n/a	n/a
46	MYC	chr2:179058340-179058385	MCF10A-Er-Src	breast:	n/a	n/a
47	JUND	chr2:179058269-179058564	K562	blood:	n/a	n/a
48	NFIC	chr2:179058118-179058657	HepG2	liver:	n/a	n/a
49	E2F6	chr2:179058219-179060180	K562	blood:	n/a	chr2:179059845-179059854 chr2:179059989-179059999 chr2:179059739-179059749
50	MXI1	chr2:179058201-179059466	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:178975067..178978289-chr2:179058254..179060575,4	MCF-7	breast:
2	chr2:179057756..179060082-chr2:179314891..179318046,3	MCF-7	breast:
3	chr2:178975761..178978600-chr2:179056476..179059620,3	K562	blood:
4	chr2:178978462..178980467-chr2:179057158..179058664,2	MCF-7	breast:
5	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: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs988589	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179056400-179058400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:179057800-179058400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:179058000-179058400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:179058000-179058400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:179058000-179058400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr2:179058000-179058400	Bivalent/Poised TSS	Fetal Lung	lung
7	chr2:179058000-179058400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
8	chr2:179058000-179058400	Flanking Bivalent TSS/Enh	A549	lung
9	chr2:179058000-179058600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:179058000-179058600	Enhancers	Fetal Brain Male	brain
11	chr2:179058000-179058600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr2:179058000-179058600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr2:179058000-179058800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:179058000-179058800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr2:179058000-179058800	Flanking Active TSS	Liver	Liver
16	chr2:179058000-179058800	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr2:179058000-179058800	Flanking Active TSS	NHEK	skin
18	chr2:179058000-179059000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr2:179058000-179060800	Active TSS	NHLF	lung
20	chr2:179058000-179061200	Active TSS	Brain Angular Gyrus	brain
21	chr2:179058200-179058400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:179058200-179058400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:179058200-179058400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr2:179058200-179058400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr2:179058200-179058400	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
26	chr2:179058200-179058400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:179058200-179058400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:179058200-179058400	Bivalent Enhancer	Brain Germinal Matrix	brain
29	chr2:179058200-179058400	Enhancers	Brain Hippocampus Middle	brain
30	chr2:179058200-179058400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:179058200-179058400	Enhancers	Colonic Mucosa	Colon
32	chr2:179058200-179058400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr2:179058200-179058400	Enhancers	Fetal Heart	heart
34	chr2:179058200-179058400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
35	chr2:179058200-179058400	Flanking Active TSS	Fetal Kidney	kidney
36	chr2:179058200-179058400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
37	chr2:179058200-179058400	Bivalent Enhancer	Placenta	Placenta
38	chr2:179058200-179058400	Enhancers	Pancreas	Pancrea
39	chr2:179058200-179058400	Enhancers	Psoas Muscle	Psoas
40	chr2:179058200-179058400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr2:179058200-179058400	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr2:179058200-179058400	Bivalent Enhancer	HepG2	liver
43	chr2:179058200-179058400	Bivalent Enhancer	HUVEC	blood vessel
44	chr2:179058200-179058400	Bivalent Enhancer	K562	blood
45	chr2:179058200-179058600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:179058200-179058600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
47	chr2:179058200-179058600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:179058200-179058600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:179058200-179058600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:179058200-179058600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

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