Variant report

Variant	rs56760430
Chromosome Location	chr1:154201486-154201487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154201106..154203777-chr1:154208596..154211363,2	K562	blood:
2	chr1:154200748..154203473-chr1:154220403..154223108,2	MCF-7	breast:
3	chr1:154201393..154203526-chr1:154206473..154209093,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1113142	1.00[EUR][1000 genomes]
rs11265605	1.00[EUR][1000 genomes]
rs1194591	1.00[EUR][1000 genomes]
rs1194594	1.00[EUR][1000 genomes]
rs1194597	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194601	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194605	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1205590	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835909	1.00[EUR][1000 genomes]
rs1685625	1.00[EUR][1000 genomes]
rs1685626	1.00[EUR][1000 genomes]
rs1760791	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1817688	1.00[EUR][1000 genomes]
rs2340487	1.00[EUR][1000 genomes]
rs2500222	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2633434	1.00[EUR][1000 genomes]
rs4406621	1.00[EUR][1000 genomes]
rs4845369	1.00[EUR][1000 genomes]
rs55649582	1.00[EUR][1000 genomes]
rs55650526	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55664806	1.00[EUR][1000 genomes]
rs55857358	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56752149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57011078	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59310765	1.00[EUR][1000 genomes]
rs59651124	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60506384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60743909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6666943	1.00[EUR][1000 genomes]
rs715737	1.00[EUR][1000 genomes]
rs7527520	1.00[EUR][1000 genomes]
rs7556118	1.00[EUR][1000 genomes]
rs9804125	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154194800-154202000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:154195200-154211400	Weak transcription	Right Atrium	heart
3	chr1:154195400-154234600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:154195600-154244000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:154195800-154204000	Weak transcription	Stomach Mucosa	stomach
6	chr1:154196200-154203200	Weak transcription	Fetal Brain Male	brain
7	chr1:154196200-154243800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:154196400-154218600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:154196400-154243800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:154196600-154237600	Strong transcription	Fetal Thymus	thymus
11	chr1:154196600-154243600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:154196800-154211800	Strong transcription	NHEK	skin
13	chr1:154196800-154224200	Strong transcription	K562	blood
14	chr1:154196800-154224400	Strong transcription	Primary B cells from cord blood	blood
15	chr1:154196800-154235800	Strong transcription	HUVEC	blood vessel
16	chr1:154196800-154242600	Strong transcription	A549	lung
17	chr1:154197000-154235000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:154197000-154242800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:154197000-154243200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:154197000-154243600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:154197000-154243800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:154197000-154243800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:154197200-154205000	Strong transcription	NHDF-Ad	bronchial
24	chr1:154197200-154210800	Strong transcription	HMEC	breast
25	chr1:154197200-154214200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:154197200-154243600	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:154197200-154244000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:154197400-154203400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:154197400-154212200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr1:154197400-154224200	Strong transcription	Hela-S3	cervix
31	chr1:154197400-154242800	Strong transcription	Brain Anterior Caudate	brain
32	chr1:154197600-154201800	Strong transcription	Fetal Kidney	kidney
33	chr1:154197600-154202800	Strong transcription	Spleen	Spleen
34	chr1:154197600-154203600	Strong transcription	NH-A	brain
35	chr1:154197600-154204400	Strong transcription	HSMM	muscle
36	chr1:154197600-154204600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:154197600-154205200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:154197600-154205400	Strong transcription	Fetal Lung	lung
39	chr1:154197600-154205800	Strong transcription	Rectal Smooth Muscle	rectum
40	chr1:154197600-154208800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:154197600-154209600	Strong transcription	Fetal Intestine Small	intestine
42	chr1:154197600-154210600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:154197600-154211200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:154197600-154211200	Strong transcription	Lung	lung
45	chr1:154197600-154212800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:154197600-154213200	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr1:154197600-154214000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:154197600-154214600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:154197600-154218600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:154197600-154218800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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