Variant report

Variant	rs2363464
Chromosome Location	chr2:209131576-209131577
allele	A/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	MBD4	chr2:209129927-209131651	HepG2	liver:	n/a	n/a
2	TBL1XR1	chr2:209129765-209131669	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:209129665-209132065	GM12891	blood:	n/a	n/a
4	ZC3H11A	chr2:209131264-209131682	K562	blood:	n/a	n/a
5	POLR2A	chr2:209129750-209131632	GM12892	blood:	n/a	n/a
6	POLR2A	chr2:209129898-209131869	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:209129957-209131634	GM12878	blood:	n/a	n/a
8	SIN3A	chr2:209130131-209131898	H1-hESC	embryonic stem cell:	n/a	chr2:209131049-209131062
9	MXI1	chr2:209130119-209131935	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:209129772-209131636	NB4	blood:	n/a	n/a
11	MAZ	chr2:209130094-209131810	GM12878	blood:	n/a	chr2:209130353-209130362
12	TBP	chr2:209130057-209131721	GM12878	blood:	n/a	n/a
13	WRNIP1	chr2:209129994-209131685	GM12878	blood:	n/a	n/a
14	NRF1	chr2:209130480-209131595	SK-N-SH	brain:	n/a	n/a
15	MAX	chr2:209130438-209131807	Hela-S3	cervix:	n/a	n/a
16	RELA	chr2:209130027-209131595	GM19193	blood:	n/a	n/a
17	POLR2A	chr2:209130058-209131921	PBDE	blood:	n/a	n/a
18	TAF1	chr2:209130541-209131675	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZKSCAN1	chr2:209130583-209131727	Hela-S3	cervix:	n/a	n/a
20	UBTF	chr2:209130374-209131752	K562	blood:	n/a	n/a
21	RELA	chr2:209129768-209131704	GM15510	blood:	n/a	n/a
22	POLR2A	chr2:209130030-209131702	HL-60	blood:	n/a	n/a
23	EBF1	chr2:209130262-209131690	GM12878	blood:	n/a	n/a
24	CREB1	chr2:209129932-209131727	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:209130453-209131914	MCF10A-Er-Src	breast:	n/a	n/a
26	CHD2	chr2:209130171-209131701	GM12878	blood:	n/a	n/a
27	SIN3AK20	chr2:209130713-209131649	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr2:209130174-209131614	K562	blood:	n/a	n/a
29	MXI1	chr2:209129623-209132308	SK-N-SH	brain:	n/a	n/a
30	SMC3	chr2:209131382-209131756	Hela-S3	cervix:	n/a	n/a
31	STAT1	chr2:209130206-209131874	GM12878	blood:	n/a	chr2:209131854-209131863 chr2:209130795-209130806 chr2:209131522-209131533 chr2:209130796-209130805 chr2:209130797-209130806 chr2:209130967-209130979
32	BCLAF1	chr2:209130045-209131586	GM12878	blood:	n/a	chr2:209131227-209131236
33	REST	chr2:209130055-209131684	H1-neurons	neurons:	n/a	chr2:209131202-209131220
34	JUND	chr2:209131384-209131584	K562	blood:	n/a	chr2:209131483-209131490 chr2:209131470-209131482
35	POLR2A	chr2:209130472-209131997	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr2:209129816-209131637	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr2:209130358-209131960	IMR90	lung:	n/a	n/a
38	POLR2A	chr2:209129819-209131598	HepG2	liver:	n/a	n/a
39	ZNF263	chr2:209130063-209131661	HEK293-T-REx	kidney:	n/a	chr2:209130901-209130910 chr2:209131183-209131192
40	TCF12	chr2:209130086-209131582	A549	lung:	n/a	n/a
41	FOXA1	chr2:209131451-209132110	HepG2	liver:	n/a	n/a
42	CEBPB	chr2:209131486-209131941	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr2:209129769-209132058	GM12878	blood:	n/a	n/a
44	IKZF1	chr2:209131306-209131577	GM12878	blood:	n/a	n/a
45	RELA	chr2:209129854-209131977	GM10847	blood:	n/a	n/a
46	MTA3	chr2:209129897-209131927	GM12878	blood:	n/a	n/a
47	POLR2A	chr2:209129967-209131750	GM18951	blood:	n/a	n/a
48	CEBPB	chr2:209131556-209131736	K562	blood:	n/a	n/a
49	MAFK	chr2:209131456-209131997	IMR90	lung:	n/a	n/a
50	EP300	chr2:209130085-209131756	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:209121994..209124234-chr2:209131369..209133621,2	MCF-7	breast:
2	chr2:209104332..209106656-chr2:209130862..209133286,2	MCF-7	breast:
3	chr2:209129671..209132812-chr2:209132994..209136144,5	MCF-7	breast:
4	chr2:209116323..209122695-chr2:209127326..209132568,14	K562	blood:
5	chr2:209116323..209123332-chr2:209127326..209134005,17	K562	blood:
6	chr2:209129669..209131681-chr2:209132251..209135245,2	K562	blood:
7	chr2:209119136..209119874-chr2:209130641..209131606,2	MCF-7	breast:
8	chr2:209117138..209121626-chr2:209129108..209132782,7	MCF-7	breast:
9	chr2:209118313..209121811-chr2:209130870..209135068,6	MCF-7	breast:

Variant related genes	Relation type
IDH1	TF binding region
ENSG00000231908	Chromatin interaction
ENSG00000138413	Chromatin interaction
ENSG00000228380	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1023751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10755022	1.00[AMR][1000 genomes]
rs10932258	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11674342	1.00[AMR][1000 genomes]
rs11690008	1.00[AMR][1000 genomes]
rs12464567	1.00[AMR][1000 genomes]
rs12474810	1.00[AMR][1000 genomes]
rs12694099	1.00[AMR][1000 genomes]
rs1348752	1.00[AMR][1000 genomes]
rs1446323	1.00[YRI][hapmap]
rs1529978	1.00[AMR][1000 genomes]
rs1992740	1.00[AMR][1000 genomes]
rs2043718	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2043719	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2118298	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4675756	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6435421	1.00[AMR][1000 genomes]
rs6435422	1.00[AMR][1000 genomes]
rs6435423	1.00[AMR][1000 genomes]
rs6435424	1.00[AMR][1000 genomes]
rs6435432	1.00[AMR][1000 genomes]
rs6435438	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6706160	1.00[AMR][1000 genomes]
rs6728979	1.00[AMR][1000 genomes]
rs6748431	1.00[AMR][1000 genomes]
rs6755550	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7593482	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs796269	1.00[AMR][1000 genomes]
rs935366	1.00[AMR][1000 genomes]
rs9808144	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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr2:209129600-209132000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:209129800-209131600	Active TSS	Esophagus	oesophagus
3	chr2:209129800-209132800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr2:209129800-209132800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:209129800-209133000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:209129800-209133000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:209130000-209131800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:209130000-209132000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr2:209130000-209132200	Active TSS	Aorta	Aorta
10	chr2:209130000-209132200	Active TSS	Right Ventricle	heart
11	chr2:209130000-209132400	Active TSS	Psoas Muscle	Psoas
12	chr2:209130000-209132600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr2:209130000-209132600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:209130000-209132600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:209130000-209132800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr2:209130000-209132800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:209130000-209132800	Active TSS	Ovary	ovary
18	chr2:209130200-209131600	Active TSS	Brain Angular Gyrus	brain
19	chr2:209130200-209131600	Active TSS	Brain Anterior Caudate	brain
20	chr2:209130200-209131600	Active TSS	Brain Cingulate Gyrus	brain
21	chr2:209130200-209131600	Active TSS	Pancreas	Pancrea
22	chr2:209130200-209131600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr2:209130200-209131600	Active TSS	Rectal Smooth Muscle	rectum
24	chr2:209130200-209131800	Active TSS	Brain Germinal Matrix	brain
25	chr2:209130200-209131800	Active TSS	Brain Hippocampus Middle	brain
26	chr2:209130200-209131800	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr2:209130200-209131800	Active TSS	Brain Substantia Nigra	brain
28	chr2:209130200-209131800	Active TSS	Gastric	stomach
29	chr2:209130200-209131800	Active TSS	Left Ventricle	heart
30	chr2:209130200-209131800	Active TSS	Placenta Amnion	Placenta Amnion
31	chr2:209130200-209132000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:209130200-209132000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:209130200-209132000	Active TSS	Fetal Muscle Trunk	muscle
34	chr2:209130200-209132000	Bivalent/Poised TSS	HepG2	liver
35	chr2:209130200-209132200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:209130200-209132200	Active TSS	Fetal Intestine Small	intestine
37	chr2:209130200-209132200	Active TSS	A549	lung
38	chr2:209130200-209132400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:209130200-209132400	Active TSS	Fetal Intestine Large	intestine
40	chr2:209130200-209132400	Active TSS	Right Atrium	heart
41	chr2:209130200-209132400	Active TSS	Dnd41	blood
42	chr2:209130200-209132600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:209130200-209132600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:209130200-209132600	Active TSS	Colon Smooth Muscle	Colon
45	chr2:209130200-209132800	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr2:209130200-209132800	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr2:209130200-209132800	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr2:209130200-209133400	Active TSS	K562	blood
49	chr2:209130400-209131600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:209130400-209131600	Active TSS	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links