Variant report

Variant	rs17131534
Chromosome Location	chr1:92179147-92179148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:92179079-92179250	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr1:92178594-92179317	K562	blood:	n/a	n/a
3	USF1	chr1:92179067-92179261	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr1:92179057-92179163	K562	blood:	n/a	n/a
5	WRNIP1	chr1:92178945-92179226	GM12878	blood:	n/a	n/a
6	MTA3	chr1:92178705-92179533	GM12878	blood:	n/a	n/a
7	CHD2	chr1:92178692-92179452	GM12878	blood:	n/a	n/a
8	MYC	chr1:92178577-92179364	K562	blood:	n/a	n/a
9	MEF2A	chr1:92178863-92179256	GM12878	blood:	n/a	n/a
10	RCOR1	chr1:92178552-92179345	K562	blood:	n/a	n/a
11	CBX3	chr1:92178523-92179430	K562	blood:	n/a	n/a
12	NFIC	chr1:92178629-92179511	GM12878	blood:	n/a	n/a
13	USF2	chr1:92179093-92179294	H1-hESC	embryonic stem cell:	n/a	n/a
14	EP300	chr1:92178903-92179489	GM12878	blood:	n/a	n/a
15	MAX	chr1:92178805-92179388	NB4	blood:	n/a	n/a
16	RELA	chr1:92178585-92179379	GM19193	blood:	n/a	n/a
17	EP300	chr1:92178891-92179502	GM12878	blood:	n/a	n/a
18	IKZF1	chr1:92178798-92179368	GM12878	blood:	n/a	n/a
19	ZNF143	chr1:92179017-92179284	K562	blood:	n/a	n/a
20	RUNX3	chr1:92178517-92179509	GM12878	blood:	n/a	n/a
21	USF1	chr1:92179041-92179298	GM12878	blood:	n/a	n/a
22	MAX	chr1:92178503-92179288	K562	blood:	n/a	n/a
23	RELA	chr1:92178589-92179400	GM12891	blood:	n/a	n/a
24	CEBPB	chr1:92179022-92179401	K562	blood:	n/a	chr1:92179321-92179334
25	UBTF	chr1:92178576-92179286	K562	blood:	n/a	n/a
26	CEBPB	chr1:92179037-92179343	K562	blood:	n/a	chr1:92179321-92179334
27	MAX	chr1:92178562-92179317	K562	blood:	n/a	n/a
28	CEBPB	chr1:92179046-92179392	H1-hESC	embryonic stem cell:	n/a	chr1:92179321-92179334
29	ATF1	chr1:92178624-92179281	K562	blood:	n/a	n/a
30	MAFK	chr1:92179123-92179292	K562	blood:	n/a	n/a
31	TBL1XR1	chr1:92178731-92179418	K562	blood:	n/a	n/a
32	ATF2	chr1:92178671-92179395	GM12878	blood:	n/a	n/a
33	MAX	chr1:92178958-92179158	H1-hESC	embryonic stem cell:	n/a	n/a
34	EP300	chr1:92178915-92179547	GM12878	blood:	n/a	n/a
35	TEAD4	chr1:92178471-92179402	K562	blood:	n/a	n/a
36	FOXM1	chr1:92178622-92179519	GM12878	blood:	n/a	n/a
37	USF2	chr1:92178958-92179398	GM12878	blood:	n/a	n/a
38	MYC	chr1:92178521-92179427	K562	blood:	n/a	n/a
39	USF1	chr1:92179030-92179324	K562	blood:	n/a	n/a
40	NFIC	chr1:92178745-92179349	GM12878	blood:	n/a	n/a
41	TBL1XR1	chr1:92179024-92179299	K562	blood:	n/a	n/a
42	BHLHE40	chr1:92178632-92179229	K562	blood:	n/a	n/a
43	JUND	chr1:92178491-92179374	K562	blood:	n/a	n/a
44	REST	chr1:92178586-92179446	HL-60	blood:	n/a	chr1:92178636-92178656
45	CEBPB	chr1:92178976-92179353	K562	blood:	n/a	chr1:92179321-92179334
46	POLR2A	chr1:92178566-92179405	HL-60	blood:	n/a	n/a
47	ZMIZ1	chr1:92179086-92179292	K562	blood:	n/a	n/a
48	POLR2A	chr1:92178522-92179439	HL-60	blood:	n/a	n/a
49	STAT1	chr1:92179086-92179286	GM12878	blood:	n/a	n/a
50	EBF1	chr1:92178699-92179462	GM12878	blood:	n/a	chr1:92179156-92179166 chr1:92179156-92179165 chr1:92179155-92179166

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92178299..92180371-chr1:92198181..92200886,2	K562	blood:

No data

Variant related genes	Relation type
TGFBR3	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11466587	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11466605	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11811962	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12722864	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12735851	0.85[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17131531	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17879938	0.80[AFR][1000 genomes]
rs35166025	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6660401	0.81[AMR][1000 genomes]
rs6665312	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7524679	0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92152600-92184200	Strong transcription	HepG2	liver
2	chr1:92153000-92197000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:92155800-92191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:92159800-92183800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:92164000-92184400	Weak transcription	Hela-S3	cervix
6	chr1:92164000-92195000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:92165800-92184800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:92165800-92196800	Weak transcription	Small Intestine	intestine
9	chr1:92166600-92191000	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:92167400-92184800	Weak transcription	A549	lung
11	chr1:92168000-92191000	Weak transcription	HUVEC	blood vessel
12	chr1:92169800-92187200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:92171000-92196800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:92171200-92196800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:92172800-92197000	Weak transcription	Colonic Mucosa	Colon
16	chr1:92173200-92182400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:92173200-92202400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:92173600-92185000	Weak transcription	Gastric	stomach
19	chr1:92173600-92197800	Weak transcription	Brain Angular Gyrus	brain
20	chr1:92173800-92184400	Weak transcription	Fetal Intestine Small	intestine
21	chr1:92173800-92184600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:92174400-92180200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:92174400-92181600	Weak transcription	Pancreas	Pancrea
24	chr1:92174400-92184400	Weak transcription	Esophagus	oesophagus
25	chr1:92174400-92191200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:92174600-92180200	Weak transcription	Spleen	Spleen
27	chr1:92174600-92184800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:92175400-92180600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:92176600-92179400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:92176800-92184400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:92177200-92179400	Flanking Active TSS	GM12878-XiMat	blood
32	chr1:92177800-92179200	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr1:92177800-92181800	Genic enhancers	NHDF-Ad	bronchial
34	chr1:92178000-92179400	Enhancers	Fetal Stomach	stomach
35	chr1:92178000-92181600	Weak transcription	Lung	lung
36	chr1:92178000-92185000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:92178200-92179400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:92178200-92179400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:92178200-92179400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr1:92178200-92180000	Enhancers	NHLF	lung
41	chr1:92178200-92180200	Weak transcription	Fetal Intestine Large	intestine
42	chr1:92178200-92180400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:92178200-92180600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:92178200-92180800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:92178200-92181600	Enhancers	Fetal Lung	lung
46	chr1:92178200-92183600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:92178400-92179200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr1:92178400-92179200	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr1:92178400-92179400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:92178400-92179400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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