Variant report

Variant	rs56383622
Chromosome Location	chr1:154405024-154405025
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	TCF7L2	chr1:154405020-154405610	HCT-116	colon:	n/a	chr1:154405253-154405260 chr1:154405253-154405262
2	MAX	chr1:154405021-154406270	HCT-116	colon:	n/a	n/a
3	FOXA1	chr1:154404953-154405361	HepG2	liver:	n/a	n/a
4	MAX	chr1:154404996-154405518	HepG2	liver:	n/a	n/a
5	MAX	chr1:154404990-154406215	HCT-116	colon:	n/a	n/a
6	FOXA1	chr1:154405014-154405416	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154401123..154404227-chr1:154404483..154407452,3	MCF-7	breast:
2	chr1:154403886..154406138-chr1:154407625..154409567,2	K562	blood:
3	chr1:154390738..154393594-chr1:154404302..154405878,2	MCF-7	breast:
4	chr1:154383846..154386269-chr1:154404015..154406956,2	K562	blood:

Variant related genes	Relation type
IL6R	TF binding region
ENSG00000160712	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11265613	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12126142	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12133641	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12730036	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12730935	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12753254	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228145	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4129267	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4133213	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4393147	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4453032	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4537545	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4576655	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4845372	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4845373	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4845620	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4845621	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4845622	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4845623	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61812598	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6664201	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6684439	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7512646	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7518199	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7521458	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7529229	0.83[EUR][1000 genomes];0.85[ASN][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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154393000-154405800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
2	chr1:154397000-154414200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:154399400-154405800	Enhancers	Right Atrium	heart
4	chr1:154399400-154407200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:154399600-154406800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:154399600-154409200	Enhancers	Placenta	Placenta
7	chr1:154399800-154405600	Enhancers	Fetal Intestine Large	intestine
8	chr1:154399800-154405800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:154399800-154406200	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr1:154400600-154405200	Weak transcription	Fetal Thymus	thymus
11	chr1:154400800-154410600	Strong transcription	Primary T cells from cord blood	blood
12	chr1:154401000-154406000	Genic enhancers	Liver	Liver
13	chr1:154401200-154406200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:154401200-154406600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:154401600-154405600	Weak transcription	Fetal Lung	lung
16	chr1:154401800-154407000	Enhancers	NHEK	skin
17	chr1:154401800-154407200	Weak transcription	Pancreas	Pancrea
18	chr1:154402000-154405400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:154402000-154406600	Genic enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:154402200-154405200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:154402200-154406200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:154402200-154406200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:154402200-154406800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:154402200-154407600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:154402400-154405800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:154402400-154405800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:154402400-154406200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:154402400-154407200	Enhancers	HMEC	breast
29	chr1:154402400-154407800	Enhancers	Fetal Heart	heart
30	chr1:154402600-154405200	Weak transcription	Brain Anterior Caudate	brain
31	chr1:154402600-154405400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:154402600-154406200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr1:154402600-154407000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:154402600-154407400	Enhancers	NHDF-Ad	bronchial
35	chr1:154402800-154405400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:154402800-154405400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:154402800-154405600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:154402800-154405800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:154402800-154406200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:154402800-154407200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:154403000-154405800	Enhancers	NH-A	brain
42	chr1:154403000-154406400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
43	chr1:154403200-154405400	Enhancers	Fetal Stomach	stomach
44	chr1:154403200-154405400	Enhancers	HSMM	muscle
45	chr1:154403200-154405800	Enhancers	Left Ventricle	heart
46	chr1:154403200-154406000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:154403200-154406000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:154403200-154406200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr1:154403200-154406200	Enhancers	Hela-S3	cervix
50	chr1:154403200-154406800	Weak transcription	Fetal Brain Male	brain

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