Variant report

Variant	rs61736926
Chromosome Location	chr1:212965284-212965285
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:632)
CpG islands
(count:122)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr1:212964706-212965458	MCF-7	breast:	n/a	chr1:212965247-212965257
2	POLR2A	chr1:212964602-212965784	Hela-S3	cervix:	n/a	n/a
3	NFIC	chr1:212964869-212965768	HepG2	liver:	n/a	n/a
4	CTCF	chr1:212965180-212965330	NHDF-neo	bronchial:	n/a	n/a
5	FOS	chr1:212964702-212965334	MCF10A-Er-Src	breast:	n/a	chr1:212964782-212964796
6	POLR2A	chr1:212964687-212965797	PFSK-1	brain:	n/a	n/a
7	TAF1	chr1:212964810-212965394	A549	lung:	n/a	n/a
8	MAX	chr1:212964765-212965536	SK-N-SH	brain:	n/a	chr1:212965428-212965438
9	POLR2A	chr1:212964783-212965597	GM12892	blood:	n/a	n/a
10	USF1	chr1:212965024-212965445	K562	blood:	n/a	chr1:212965245-212965261
11	POLR2A	chr1:212964609-212965854	GM12878	blood:	n/a	n/a
12	STAT5A	chr1:212964596-212965919	GM12878	blood:	n/a	chr1:212965570-212965579 chr1:212965571-212965580 chr1:212965568-212965582
13	TAF7	chr1:212964878-212965365	K562	blood:	n/a	n/a
14	CCNT2	chr1:212964849-212965762	K562	blood:	n/a	n/a
15	TAF1	chr1:212964805-212965469	PFSK-1	brain:	n/a	n/a
16	IRF3	chr1:212965012-212965310	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:212964595-212965547	SK-N-SH	brain:	n/a	n/a
18	STAT1	chr1:212964861-212965372	GM12878	blood:	n/a	n/a
19	SIN3AK20	chr1:212964678-212965850	HCT-116	colon:	n/a	n/a
20	YY1	chr1:212964699-212965473	GM12878	blood:	n/a	n/a
21	FOXA2	chr1:212965002-212965692	HepG2	liver:	n/a	n/a
22	JUND	chr1:212965056-212965424	HepG2	liver:	n/a	n/a
23	EBF1	chr1:212964931-212965589	GM12878	blood:	n/a	chr1:212965404-212965414 chr1:212965405-212965414 chr1:212965405-212965414
24	REST	chr1:212964774-212965443	U87	brain:	n/a	n/a
25	RELA	chr1:212964727-212965531	GM19099	blood:	n/a	n/a
26	EP300	chr1:212964741-212965646	ECC-1	luminal epithelium:	n/a	chr1:212965555-212965565 chr1:212965585-212965598
27	RFX5	chr1:212964526-212965631	Hela-S3	cervix:	n/a	n/a
28	CHD1	chr1:212964940-212965688	GM12878	blood:	n/a	n/a
29	HCFC1	chr1:212964274-212965855	Hela-S3	cervix:	n/a	n/a
30	JUND	chr1:212964737-212965656	H1-hESC	embryonic stem cell:	n/a	chr1:212964782-212964796
31	POLR2A	chr1:212964316-212965680	K562	blood:	n/a	n/a
32	POLR2A	chr1:212964533-212965879	SK-N-MC	brain:	n/a	n/a
33	SP1	chr1:212964952-212965405	GM12878	blood:	n/a	chr1:212965119-212965130
34	EP300	chr1:212964936-212965419	H1-hESC	embryonic stem cell:	n/a	n/a
35	MYC	chr1:212964646-212965569	MCF10A-Er-Src	breast:	n/a	chr1:212965428-212965438
36	POLR2A	chr1:212964810-212965639	HUVEC	blood vessel:	n/a	n/a
37	ELK1	chr1:212964824-212965384	GM12878	blood:	n/a	n/a
38	FOSL2	chr1:212964973-212965567	HepG2	liver:	n/a	n/a
39	POLR2A	chr1:212964451-212965769	K562	blood:	n/a	n/a
40	POLR2A	chr1:212964449-212965855	GM12891	blood:	n/a	n/a
41	USF1	chr1:212965060-212965537	HepG2	liver:	n/a	chr1:212965245-212965261
42	SIN3AK20	chr1:212964846-212965329	PFSK-1	brain:	n/a	n/a
43	CTCF	chr1:212965220-212965370	GM12873	blood:	n/a	n/a
44	ELF1	chr1:212964963-212965392	A549	lung:	n/a	n/a
45	HNF4G	chr1:212964965-212965654	HepG2	liver:	n/a	chr1:212965315-212965330
46	CEBPB	chr1:212964710-212965484	HepG2	liver:	n/a	n/a
47	CUX1	chr1:212965034-212965433	K562	blood:	n/a	n/a
48	BCL3	chr1:212964910-212965446	GM12878	blood:	n/a	chr1:212965245-212965258 chr1:212965246-212965259
49	REST	chr1:212964720-212965593	H1-neurons	neurons:	n/a	n/a
50	FOXA1	chr1:212964908-212965852	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:212965271-212965321	AG04449	skin:	fetal
2	chr1:212965271-212965321	HRCEpiC	kidney:	n/a
3	chr1:212965271-212965321	AG09309	skin:	n/a
4	chr1:212965260-212965310	HEK293	kidney:	embryo
5	chr1:212965271-212965321	AoSMC	blood vessel:	n/a
6	chr1:212965271-212965321	Hepatocyte	liver:	n/a
7	chr1:212965271-212965321	NHDF-neo	bronchial:	n/a
8	chr1:212965271-212965321	HCM	heart:	n/a
9	chr1:212965271-212965321	HEEpiC	esophagus:	n/a
10	chr1:212965271-212965321	BE2_C	brain:	n/a
11	chr1:212965271-212965321	HCPEpiC	choroid plexus:	n/a
12	chr1:212965271-212965321	SKMC	muscle:	n/a
13	chr1:212965271-212965321	GM12891	blood:	n/a
14	chr1:212965271-212965321	NB4	blood:	n/a
15	chr1:212965271-212965321	HRE	kidney:	n/a
16	chr1:212965260-212965310	HCF	heart:	n/a
17	chr1:212965271-212965321	SK-N-SH_RA	brain:	n/a
18	chr1:212965271-212965321	HMEC	breast:	n/a
19	chr1:212965271-212965321	Hela-S3	cervix:	n/a
20	chr1:212965271-212965321	GM06990	blood:	n/a
21	chr1:212965260-212965310	HCT-116	colon:	n/a
22	chr1:212965271-212965321	HCT-116	colon:	n/a
23	chr1:212965271-212965321	HUVEC	blood vessel:	n/a
24	chr1:212965260-212965310	HPAEpiC	pulmonary alveolar:	n/a
25	chr1:212965271-212965321	SK-N-MC	brain:	n/a
26	chr1:212965260-212965310	NT2-D1	testis:	n/a
27	chr1:212965260-212965310	RPTEC	kidney:	n/a
28	chr1:212965271-212965321	SK-N-SH	brain:	n/a
29	chr1:212965260-212965310	SAEC	small airway:	n/a
30	chr1:212965271-212965321	K562	blood:	n/a
31	chr1:212965271-212965321	RPTEC	kidney:	n/a
32	chr1:212965260-212965310	PANC-1	pancreas:	n/a
33	chr1:212965260-212965310	Hepatocyte	liver:	n/a
34	chr1:212965260-212965310	GM12891	blood:	n/a
35	chr1:212965260-212965310	HepG2	liver:	n/a
36	chr1:212965271-212965321	NHBE	bronchial:	n/a
37	chr1:212965271-212965321	NT2-D1	testis:	n/a
38	chr1:212965260-212965310	AG04449	skin:	fetal
39	chr1:212965271-212965321	GM19239	blood:	n/a
40	chr1:212965260-212965310	Jurkat	blood:	n/a
41	chr1:212965260-212965310	CMK	blood:	n/a
42	chr1:212965260-212965310	T-47D	breast:	n/a
43	chr1:212965271-212965321	T-47D	breast:	n/a
44	chr1:212965271-212965321	CMK	blood:	n/a
45	chr1:212965260-212965310	PrEC	prostate:	n/a
46	chr1:212965260-212965310	AG10803	skin:	n/a
47	chr1:212965260-212965310	AG09319	gingival:	n/a
48	chr1:212965260-212965310	Hela-S3	cervix:	n/a
49	chr1:212965260-212965310	SK-N-MC	brain:	n/a
50	chr1:212965260-212965310	Caco-2	colon:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212963280..212966676-chr1:213030010..213031803,4	K562	blood:
2	chr1:212965176..212966735-chr1:213030010..213031816,2	K562	blood:
3	chr1:212964768..212965693-chr6:26032219..26032719,2	Hela-S3	cervix:
4	chr1:212963881..212969695-chr1:212970420..212976060,10	K562	blood:
5	chr1:212964996..212965639-chr9:139440182..139440883,2	Hela-S3	cervix:
6	chr1:212964912..212966461-chr1:212995791..212998620,2	K562	blood:
7	chr1:212779632..212786722-chr1:212963640..212968604,10	K562	blood:
8	chr1:212525375..212527593-chr1:212964320..212966298,2	MCF-7	breast:
9	chr1:212586665..212588349-chr1:212964322..212966191,2	MCF-7	breast:
10	chr1:212965082..212965649-chr10:111967971..111968491,2	NB4	blood:
11	chr1:212779632..212786722-chr1:212965265..212968763,9	K562	blood:

No data

Variant related genes	Relation type
NSL1	TF binding region
TATDN3	TF binding region
TATDN3	CpG island
NSL1	CpG island
ENSG00000265181	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000065600	Chromatin interaction
ENSG00000237886	Chromatin interaction
ENSG00000198468	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000148400	Chromatin interaction
ENSG00000228417	Chromatin interaction
ENSG00000201544	Chromatin interaction
ENSG00000236905	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000162769	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10127512	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10127703	0.86[ASN][1000 genomes]
rs10127756	0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1046083	0.89[AFR][1000 genomes]
rs10863988	0.87[ASN][1000 genomes]
rs10863997	0.86[ASN][1000 genomes]
rs11120006	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11120010	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11120014	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11120017	0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11120018	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11556187	0.88[ASN][1000 genomes]
rs11806535	0.81[ASN][1000 genomes]
rs11808846	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11809232	0.88[ASN][1000 genomes]
rs11809382	0.87[ASN][1000 genomes]
rs11811017	0.81[ASN][1000 genomes]
rs12125867	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12129465	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12133174	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12137768	0.86[ASN][1000 genomes]
rs12145131	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402370	0.86[ASN][1000 genomes]
rs12404618	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12404885	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12406499	0.81[ASN][1000 genomes]
rs12409787	0.81[EUR][1000 genomes]
rs13376317	0.87[ASN][1000 genomes]
rs13376383	0.87[ASN][1000 genomes]
rs13376390	0.87[ASN][1000 genomes]
rs1507357	0.81[ASN][1000 genomes]
rs1507358	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1857971	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2135823	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2174781	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28872849	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34110137	0.88[ASN][1000 genomes]
rs3738798	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738803	0.87[ASN][1000 genomes]
rs55840547	0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs56088044	0.87[ASN][1000 genomes]
rs56243109	0.82[ASN][1000 genomes]
rs57449384	0.86[ASN][1000 genomes]
rs58203936	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60308869	0.90[AFR][1000 genomes]
rs6540760	0.86[AFR][1000 genomes]
rs6540762	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6657089	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6664049	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6665365	0.87[ASN][1000 genomes]
rs6670648	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6671866	0.88[ASN][1000 genomes]
rs6687672	0.86[ASN][1000 genomes]
rs6688238	0.92[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6694448	0.87[AFR][1000 genomes]
rs6700204	0.83[ASN][1000 genomes]
rs6702101	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73081830	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73081853	0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73081902	0.86[ASN][1000 genomes]
rs73083705	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73083707	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73083727	0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73083731	0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73083743	0.88[ASN][1000 genomes]
rs73083749	0.95[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7516312	0.86[ASN][1000 genomes]
rs7527216	0.90[AFR][1000 genomes]
rs7537598	0.87[ASN][1000 genomes]
rs7538755	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7546754	0.89[AFR][1000 genomes]
rs7550288	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7552880	0.88[ASN][1000 genomes]
rs7552899	0.82[EUR][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	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1010003	chr1:212944240-212986996	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs61736926	TATDN3	cis	Nerve Tibial	GTEx
rs61736926	TATDN3	cis	Adipose Subcutaneous	GTEx
rs61736926	FLVCR1	Cis_1M	lymphoblastoid	RTeQTL
rs61736926	TATDN3	cis	Artery Tibial	GTEx
rs61736926	TATDN3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212962400-212966000	Active TSS	K562	blood
2	chr1:212963200-212966000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:212963200-212966200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:212963200-212966600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:212963400-212966400	Active TSS	Rectal Smooth Muscle	rectum
6	chr1:212963600-212966400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:212963800-212966000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:212963800-212966000	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr1:212963800-212966000	Active TSS	A549	lung
10	chr1:212963800-212966200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr1:212963800-212966200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:212963800-212966200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:212963800-212966400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:212963800-212966400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:212963800-212966600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:212964000-212966000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:212964000-212966000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:212964000-212966000	Active TSS	Hela-S3	cervix
19	chr1:212964000-212966200	Active TSS	Colon Smooth Muscle	Colon
20	chr1:212964000-212966200	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr1:212964200-212965800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr1:212964200-212965800	Active TSS	NHDF-Ad	bronchial
23	chr1:212964200-212966000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:212964200-212966000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:212964200-212966000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:212964200-212966000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:212964200-212966000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:212964200-212966000	Active TSS	Muscle Satellite Cultured Cells	--
29	chr1:212964200-212966000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:212964200-212966000	Active TSS	Aorta	Aorta
31	chr1:212964200-212966000	Active TSS	Fetal Intestine Large	intestine
32	chr1:212964200-212966000	Active TSS	Fetal Muscle Trunk	muscle
33	chr1:212964200-212966000	Active TSS	Left Ventricle	heart
34	chr1:212964200-212966000	Active TSS	Dnd41	blood
35	chr1:212964200-212966000	Active TSS	HSMMtube	muscle
36	chr1:212964200-212966000	Active TSS	NHLF	lung
37	chr1:212964200-212966200	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr1:212964200-212966200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:212964200-212966200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:212964200-212966200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:212964200-212966200	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr1:212964200-212966200	Active TSS	Fetal Kidney	kidney
43	chr1:212964200-212966200	Active TSS	Ovary	ovary
44	chr1:212964200-212966200	Active TSS	Psoas Muscle	Psoas
45	chr1:212964200-212966200	Active TSS	GM12878-XiMat	blood
46	chr1:212964200-212966400	Active TSS	H1 Cell Line	embryonic stem cell
47	chr1:212964200-212966400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:212964200-212966400	Active TSS	Fetal Brain Female	brain
49	chr1:212964200-212966400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr1:212964200-212966400	Active TSS	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links