Variant report

Variant	rs7521726
Chromosome Location	chr1:92178753-92178754
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	YY1	chr1:92178534-92178827	GM12878	blood:	n/a	chr1:92178678-92178700
2	YY1	chr1:92178554-92178854	GM12892	blood:	n/a	chr1:92178678-92178700
3	YY1	chr1:92178450-92178884	K562	blood:	n/a	chr1:92178678-92178700
4	MAZ	chr1:92178594-92179317	K562	blood:	n/a	n/a
5	MTA3	chr1:92178705-92179533	GM12878	blood:	n/a	n/a
6	CHD2	chr1:92178692-92179452	GM12878	blood:	n/a	n/a
7	MYC	chr1:92178577-92179364	K562	blood:	n/a	n/a
8	RCOR1	chr1:92178552-92179345	K562	blood:	n/a	n/a
9	ZC3H11A	chr1:92178601-92179093	K562	blood:	n/a	n/a
10	POLR2A	chr1:92178601-92178753	K562	blood:	n/a	n/a
11	IRF1	chr1:92177976-92179059	K562	blood:	n/a	chr1:92178145-92178158 chr1:92178144-92178155 chr1:92178142-92178156 chr1:92178145-92178158 chr1:92178140-92178157
12	CBX3	chr1:92178523-92179430	K562	blood:	n/a	n/a
13	NFIC	chr1:92178629-92179511	GM12878	blood:	n/a	n/a
14	RELA	chr1:92178585-92179379	GM19193	blood:	n/a	n/a
15	RUNX3	chr1:92178517-92179509	GM12878	blood:	n/a	n/a
16	MAX	chr1:92178503-92179288	K562	blood:	n/a	n/a
17	RELA	chr1:92178589-92179400	GM12891	blood:	n/a	n/a
18	YY1	chr1:92178518-92178823	GM12878	blood:	n/a	chr1:92178678-92178700
19	UBTF	chr1:92178576-92179286	K562	blood:	n/a	n/a
20	MAX	chr1:92178562-92179317	K562	blood:	n/a	n/a
21	ATF1	chr1:92178624-92179281	K562	blood:	n/a	n/a
22	TBL1XR1	chr1:92178731-92179418	K562	blood:	n/a	n/a
23	POLR2A	chr1:92178524-92178758	GM12878	blood:	n/a	n/a
24	ATF2	chr1:92178671-92179395	GM12878	blood:	n/a	n/a
25	YY1	chr1:92178503-92178812	K562	blood:	n/a	chr1:92178678-92178700
26	TEAD4	chr1:92178471-92179402	K562	blood:	n/a	n/a
27	FOXM1	chr1:92178622-92179519	GM12878	blood:	n/a	n/a
28	MYC	chr1:92178521-92179427	K562	blood:	n/a	n/a
29	NFIC	chr1:92178745-92179349	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:92178491-92178797	K562	blood:	n/a	n/a
31	BHLHE40	chr1:92178632-92179229	K562	blood:	n/a	n/a
32	JUND	chr1:92178491-92179374	K562	blood:	n/a	n/a
33	REST	chr1:92178586-92179446	HL-60	blood:	n/a	chr1:92178636-92178656
34	RCOR1	chr1:92178640-92179115	K562	blood:	n/a	n/a
35	POLR2A	chr1:92178566-92179405	HL-60	blood:	n/a	n/a
36	POLR2A	chr1:92178522-92179439	HL-60	blood:	n/a	n/a
37	EBF1	chr1:92178699-92179462	GM12878	blood:	n/a	chr1:92179156-92179166 chr1:92179156-92179165 chr1:92179155-92179166
38	CTCF	chr1:92178620-92178770	AG09319	gingival:	n/a	chr1:92178666-92178684
39	EP300	chr1:92178317-92179409	K562	blood:	n/a	n/a
40	BCLAF1	chr1:92178690-92179438	GM12878	blood:	n/a	chr1:92179162-92179171 chr1:92179161-92179170
41	RUNX3	chr1:92178689-92179597	GM12878	blood:	n/a	n/a
42	MXI1	chr1:92178750-92179471	GM12878	blood:	n/a	n/a

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

Variant related genes	Relation type
TGFBR3	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10782997	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165279	0.92[JPT][hapmap]
rs11165306	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165308	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165310	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11165313	0.92[JPT][hapmap]
rs12082710	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12117058	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133463	0.92[JPT][hapmap]
rs12141338	0.91[JPT][hapmap]
rs1805113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291477	0.92[JPT][hapmap]
rs2296621	0.92[JPT][hapmap]
rs3754021	0.92[JPT][hapmap]
rs3767574	0.92[JPT][hapmap]
rs6604050	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7521418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7549755	0.92[JPT][hapmap]

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:100 , 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	chr1:92155400-92178800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:92155600-92178800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:92155800-92191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:92159800-92183800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:92164000-92184400	Weak transcription	Hela-S3	cervix
8	chr1:92164000-92195000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:92165800-92184800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:92165800-92196800	Weak transcription	Small Intestine	intestine
11	chr1:92166600-92191000	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:92167400-92184800	Weak transcription	A549	lung
13	chr1:92168000-92191000	Weak transcription	HUVEC	blood vessel
14	chr1:92169200-92178800	Strong transcription	Liver	Liver
15	chr1:92169800-92187200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:92171000-92196800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:92171200-92196800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:92172800-92197000	Weak transcription	Colonic Mucosa	Colon
19	chr1:92173200-92182400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:92173200-92202400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:92173600-92185000	Weak transcription	Gastric	stomach
22	chr1:92173600-92197800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:92173800-92184400	Weak transcription	Fetal Intestine Small	intestine
24	chr1:92173800-92184600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:92174400-92180200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:92174400-92181600	Weak transcription	Pancreas	Pancrea
27	chr1:92174400-92184400	Weak transcription	Esophagus	oesophagus
28	chr1:92174400-92191200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:92174600-92180200	Weak transcription	Spleen	Spleen
30	chr1:92174600-92184800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:92175400-92180600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:92176600-92179400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:92176800-92184400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:92177200-92179400	Flanking Active TSS	GM12878-XiMat	blood
35	chr1:92177800-92179000	Genic enhancers	Placenta	Placenta
36	chr1:92177800-92179000	Enhancers	Left Ventricle	heart
37	chr1:92177800-92179200	Genic enhancers	Primary T cells fromperipheralblood	blood
38	chr1:92177800-92181800	Genic enhancers	NHDF-Ad	bronchial
39	chr1:92178000-92178800	Enhancers	Colon Smooth Muscle	Colon
40	chr1:92178000-92178800	Weak transcription	Fetal Kidney	kidney
41	chr1:92178000-92179000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr1:92178000-92179000	Active TSS	Right Atrium	heart
43	chr1:92178000-92179400	Enhancers	Fetal Stomach	stomach
44	chr1:92178000-92181600	Weak transcription	Lung	lung
45	chr1:92178000-92185000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:92178200-92179000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:92178200-92179400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:92178200-92179400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:92178200-92179400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:92178200-92180000	Enhancers	NHLF	lung

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