Variant report

Variant	rs11211337
Chromosome Location	chr1:47133811-47133812
allele	A/G
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	ZNF263	chr1:47133107-47134632	HEK293-T-REx	kidney:	n/a	chr1:47134151-47134160 chr1:47134012-47134021 chr1:47134006-47134015 chr1:47133684-47133693 chr1:47134009-47134018 chr1:47133276-47133285 chr1:47134255-47134264
2	POLR2A	chr1:47133789-47134132	HepG2	liver:	n/a	n/a
3	CREB1	chr1:47133568-47134381	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr1:47133720-47133870	GM12875	blood:	n/a	n/a
5	POLR2A	chr1:47133190-47134709	PBDE	blood:	n/a	n/a
6	PAX5	chr1:47133764-47134486	GM12878	blood:	n/a	chr1:47134081-47134090
7	HEY1	chr1:47133555-47134272	HepG2	liver:	n/a	chr1:47134078-47134093 chr1:47134165-47134180 chr1:47134067-47134082 chr1:47134084-47134099 chr1:47134156-47134171
8	POLR2A	chr1:47133379-47135115	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAZ	chr1:47133797-47134617	GM12878	blood:	n/a	chr1:47134154-47134164 chr1:47133999-47134009
10	YY1	chr1:47133675-47134370	SK-N-SH_RA	brain:	n/a	chr1:47133998-47134007
11	POLR2A	chr1:47133144-47134285	Hela-S3	cervix:	n/a	n/a
12	FOXA1	chr1:47133725-47134271	HepG2	liver:	n/a	n/a
13	MAZ	chr1:47133613-47134349	HepG2	liver:	n/a	chr1:47134154-47134164 chr1:47133999-47134009 chr1:47133687-47133697
14	PML	chr1:47133668-47134602	GM12878	blood:	n/a	n/a
15	TCF12	chr1:47133614-47133925	H1-hESC	embryonic stem cell:	n/a	n/a
16	EGR1	chr1:47133798-47134179	GM12878	blood:	n/a	chr1:47133999-47134013 chr1:47134156-47134166 chr1:47133996-47134009 chr1:47134000-47134010 chr1:47133996-47134009 chr1:47134081-47134090 chr1:47134154-47134167 chr1:47134078-47134088 chr1:47133997-47134008 chr1:47133996-47134009 chr1:47134083-47134093 chr1:47133997-47134006 chr1:47133996-47134009 chr1:47133996-47134006 chr1:47134002-47134015
17	SMC3	chr1:47133702-47134035	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr1:47133612-47134254	Hela-S3	cervix:	n/a	chr1:47133685-47133695 chr1:47134136-47134146 chr1:47134146-47134156
19	CREB1	chr1:47133204-47134444	HepG2	liver:	n/a	n/a
20	YY1	chr1:47133706-47134209	K562	blood:	n/a	chr1:47133998-47134007
21	HDAC2	chr1:47133540-47134168	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:47133487-47134473	GM10847	blood:	n/a	n/a
23	YY1	chr1:47133511-47134343	HepG2	liver:	n/a	chr1:47133669-47133683 chr1:47133998-47134007
24	POLR2A	chr1:47133470-47134599	MCF-7	breast:	n/a	n/a
25	POLR2A	chr1:47132948-47134691	GM12892	blood:	n/a	n/a
26	CREB1	chr1:47133768-47134445	A549	lung:	n/a	n/a
27	SMARCB1	chr1:47133244-47134441	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:47133221-47134734	GM19193	blood:	n/a	n/a
29	MYC	chr1:47133798-47134231	K562	blood:	n/a	chr1:47134154-47134164 chr1:47133999-47134009
30	MYC	chr1:47133628-47134117	NB4	blood:	n/a	chr1:47133999-47134009 chr1:47133687-47133697
31	NRF1	chr1:47133281-47134390	SK-N-SH	brain:	n/a	chr1:47134077-47134091 chr1:47133724-47133735 chr1:47134079-47134088
32	MAX	chr1:47133594-47134617	GM12878	blood:	n/a	chr1:47134154-47134164 chr1:47133999-47134009 chr1:47133687-47133697
33	POLR2A	chr1:47133485-47134462	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr1:47133691-47134280	SK-N-SH_RA	brain:	n/a	chr1:47133998-47134007
35	CTCF	chr1:47133762-47133896	GM19240	blood:	n/a	n/a
36	POLR2A	chr1:47133550-47134830	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr1:47133584-47134473	A549	lung:	n/a	n/a
38	ZBTB7A	chr1:47133629-47134185	K562	blood:	n/a	chr1:47134158-47134167
39	MAX	chr1:47133777-47134661	A549	lung:	n/a	chr1:47134154-47134164 chr1:47133999-47134009
40	POLR2A	chr1:47133535-47134544	GM15510	blood:	n/a	n/a
41	MXI1	chr1:47133237-47134459	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:47133674-47134397	A549	lung:	n/a	n/a
43	YY1	chr1:47133756-47134401	GM12878	blood:	n/a	chr1:47133998-47134007
44	POLR2A	chr1:47133670-47134466	HUVEC	blood vessel:	n/a	n/a
45	YY1	chr1:47133648-47134399	GM12878	blood:	n/a	chr1:47133669-47133683 chr1:47133998-47134007
46	CTCF	chr1:47133771-47133915	GM12891	blood:	n/a	n/a
47	POLR2A	chr1:47133661-47134238	K562	blood:	n/a	n/a
48	HEY1	chr1:47133725-47134185	K562	blood:	n/a	chr1:47134078-47134093 chr1:47134165-47134180 chr1:47134067-47134082 chr1:47134084-47134099 chr1:47134156-47134171
49	POLR2A	chr1:47132830-47134920	GM12891	blood:	n/a	n/a
50	TCF12	chr1:47133747-47134386	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:47133793-47133843	MCF-7	breast:	n/a
2	chr1:47133793-47133843	GM06990	blood:	n/a
3	chr1:47133793-47133843	SKMC	muscle:	n/a
4	chr1:47133793-47133843	PrEC	prostate:	n/a
5	chr1:47133793-47133843	HAEpiC	amniotic membrane:	n/a
6	chr1:47133793-47133843	K562	blood:	n/a
7	chr1:47133793-47133843	HCT-116	colon:	n/a
8	chr1:47133793-47133843	H1-hESC	embryonic stem cell:	embryo
9	chr1:47133793-47133843	AoSMC	blood vessel:	n/a
10	chr1:47133793-47133843	NHDF-neo	bronchial:	n/a
11	chr1:47133793-47133843	SK-N-SH_RA	brain:	n/a
12	chr1:47133793-47133843	ProgFib	skin:	n/a
13	chr1:47133793-47133843	HepG2	liver:	n/a
14	chr1:47133793-47133843	NHBE	bronchial:	n/a
15	chr1:47133793-47133843	GM19239	blood:	n/a
16	chr1:47133793-47133843	ECC-1	luminal epithelium:	n/a
17	chr1:47133793-47133843	RPTEC	kidney:	n/a
18	chr1:47133793-47133843	NH-A	brain:	n/a
19	chr1:47133793-47133843	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:47133793-47133843	Jurkat	blood:	n/a
21	chr1:47133793-47133843	AG04449	skin:	fetal
22	chr1:47133793-47133843	HIPEpiC	eye:	n/a
23	chr1:47133793-47133843	HEEpiC	esophagus:	n/a
24	chr1:47133793-47133843	NB4	blood:	n/a
25	chr1:47133793-47133843	AG09319	gingival:	n/a
26	chr1:47133793-47133843	AG10803	skin:	n/a
27	chr1:47133793-47133843	HCM	heart:	n/a
28	chr1:47133793-47133843	HRPEpiC	eye:	n/a
29	chr1:47133793-47133843	HRE	kidney:	n/a
30	chr1:47133793-47133843	HNPCEpiC	eye:	n/a
31	chr1:47133793-47133843	Caco-2	colon:	n/a
32	chr1:47133793-47133843	SK-N-MC	brain:	n/a
33	chr1:47133793-47133843	HMEC	breast:	n/a
34	chr1:47133793-47133843	T-47D	breast:	n/a
35	chr1:47133793-47133843	HL-60	blood:	n/a
36	chr1:47133793-47133843	U87	brain:	n/a
37	chr1:47133793-47133843	Hepatocyte	liver:	n/a
38	chr1:47133793-47133843	ovcar-3	ovarian:	n/a
39	chr1:47133793-47133843	HCF	heart:	n/a
40	chr1:47133793-47133843	CMK	blood:	n/a
41	chr1:47133793-47133843	HEK293	kidney:	embryo
42	chr1:47133793-47133843	BE2_C	brain:	n/a
43	chr1:47133793-47133843	AG04450	lung:	fetal
44	chr1:47133793-47133843	BJ	skin:	n/a
45	chr1:47133793-47133843	MCF10A-Er-Src	breast:	n/a
46	chr1:47133793-47133843	GM12878	blood:	n/a
47	chr1:47133793-47133843	GM12891	blood:	n/a
48	chr1:47133793-47133843	SK-N-SH	brain:	n/a
49	chr1:47133793-47133843	A549	lung:	n/a
50	chr1:47133793-47133843	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47132421..47133961-chr1:47797739..47800236,2	K562	blood:
2	chr1:47131887..47139340-chr1:47181784..47186573,11	K562	blood:
3	chr1:47133479..47134274-chr2:32390536..32391142,2	HCT-116	colon:
4	chr1:47132021..47134292-chr1:47182751..47186267,3	MCF-7	breast:
5	chr1:47133631..47136554-chr1:47137710..47141962,4	K562	blood:
6	chr1:47130612..47137538-chr1:47138503..47143012,9	K562	blood:
7	chr1:47077660..47081751-chr1:47132686..47135354,3	MCF-7	breast:

Variant related genes	Relation type
TEX38	TF binding region
ENSG00000233647	TF binding region
ATPAF1	TF binding region
ENSG00000233647	CpG island
ATPAF1	CpG island
TEX38	CpG island
ENSG00000152683	Chromatin interaction
ENSG00000123472	Chromatin interaction
ENSG00000142961	Chromatin interaction
ENSG00000159658	Chromatin interaction
ENSG00000272716	Chromatin interaction
ENSG00000162368	Chromatin interaction
ENSG00000228237	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10749863	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10749864	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10789491	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1258061	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12794	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1371834	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440487	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545206	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1595898	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1866770	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1890473	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083485	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099766	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2218191	0.94[EUR][1000 genomes]
rs2476158	0.92[EUR][1000 genomes]
rs35050319	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35861275	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4097354	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4553120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660359	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4660956	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618505	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6668899	0.84[ASN][1000 genomes]
rs7516616	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547522	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11211337	EFCAB14	cis	Esophagus Mucosa	GTEx
rs11211337	EFCAB14	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47132600-47134800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:47132600-47134800	Active TSS	A549	lung
3	chr1:47132800-47134600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:47132800-47134600	Active TSS	Psoas Muscle	Psoas
5	chr1:47133000-47134200	Active TSS	Lung	lung
6	chr1:47133000-47134400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:47133000-47134600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:47133000-47134600	Active TSS	Aorta	Aorta
9	chr1:47133000-47134800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr1:47133200-47134000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:47133200-47134400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:47133200-47134400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:47133200-47134400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:47133200-47134400	Active TSS	HSMMtube	muscle
15	chr1:47133200-47134600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:47133200-47134600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr1:47133200-47134600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:47133200-47134600	Active TSS	Gastric	stomach
19	chr1:47133200-47134600	Active TSS	Ovary	ovary
20	chr1:47133200-47134800	Active TSS	Brain Cingulate Gyrus	brain
21	chr1:47133400-47134200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:47133400-47134200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:47133400-47134200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:47133400-47134200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:47133400-47134200	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr1:47133400-47134200	Active TSS	Pancreas	Pancrea
27	chr1:47133400-47134200	Active TSS	Stomach Smooth Muscle	stomach
28	chr1:47133400-47134200	Active TSS	Spleen	Spleen
29	chr1:47133400-47134200	Active TSS	Dnd41	blood
30	chr1:47133400-47134200	Active TSS	GM12878-XiMat	blood
31	chr1:47133400-47134200	Active TSS	K562	blood
32	chr1:47133400-47134400	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr1:47133400-47134400	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:47133400-47134400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:47133400-47134400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:47133400-47134400	Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:47133400-47134400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:47133400-47134400	Active TSS	Brain Germinal Matrix	brain
39	chr1:47133400-47134400	Active TSS	Colonic Mucosa	Colon
40	chr1:47133400-47134400	Active TSS	Colon Smooth Muscle	Colon
41	chr1:47133400-47134400	Active TSS	Fetal Stomach	stomach
42	chr1:47133400-47134400	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr1:47133400-47134400	Active TSS	Small Intestine	intestine
44	chr1:47133400-47134400	Active TSS	Hela-S3	cervix
45	chr1:47133400-47134400	Active TSS	NHLF	lung
46	chr1:47133400-47134600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:47133400-47134600	Active TSS	H9 Cell Line	embryonic stem cell
48	chr1:47133400-47134600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:47133400-47134600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:47133400-47134600	Active TSS	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links