Variant report

Variant	rs56752149
Chromosome Location	chr1:154176987-154176988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154152910..154155985-chr1:154176488..154179732,3	K562	blood:
2	chr1:154173463..154177075-chr1:154177370..154181076,3	K562	blood:
3	chr1:154157284..154158987-chr1:154175294..154177755,2	K562	blood:

Variant related genes	Relation type
ENSG00000163263	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143549	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1113142	1.00[EUR][1000 genomes]
rs11265605	1.00[EUR][1000 genomes]
rs11802893	0.81[AFR][1000 genomes]
rs1194591	1.00[EUR][1000 genomes]
rs1194594	1.00[EUR][1000 genomes]
rs1194597	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194601	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194605	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1205590	0.91[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	0.88[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55664806	1.00[EUR][1000 genomes]
rs55857358	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56760430	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57011078	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59310765	1.00[EUR][1000 genomes]
rs59651124	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60506384	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60743909	0.98[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	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154159000-154184400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:154163800-154178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:154164600-154178800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:154164800-154178200	Weak transcription	Lung	lung
5	chr1:154164800-154178400	Weak transcription	Ovary	ovary
6	chr1:154165200-154177800	Weak transcription	Placenta	Placenta
7	chr1:154165800-154178400	Weak transcription	Psoas Muscle	Psoas
8	chr1:154166800-154177800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:154167000-154178600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:154167200-154177800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:154167600-154177200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:154167800-154178800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:154169600-154178400	Weak transcription	NH-A	brain
14	chr1:154169800-154177600	Weak transcription	Fetal Thymus	thymus
15	chr1:154169800-154178800	Weak transcription	Gastric	stomach
16	chr1:154170000-154178400	Weak transcription	Hela-S3	cervix
17	chr1:154170000-154178800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:154171800-154178600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:154172000-154177200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:154172000-154177200	Weak transcription	Primary T cells from cord blood	blood
21	chr1:154172000-154177200	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:154172000-154177600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:154172000-154177600	Weak transcription	Fetal Brain Female	brain
24	chr1:154172000-154177800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:154172000-154177800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:154172000-154177800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:154172000-154177800	Weak transcription	Fetal Intestine Small	intestine
28	chr1:154172000-154177800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:154172000-154177800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:154172000-154177800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:154172000-154178000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:154172000-154178000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:154172000-154178000	Weak transcription	Brain Anterior Caudate	brain
34	chr1:154172000-154178000	Weak transcription	GM12878-XiMat	blood
35	chr1:154172000-154178200	Weak transcription	Aorta	Aorta
36	chr1:154172000-154178400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:154172000-154178400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:154172000-154178400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:154172000-154178400	Weak transcription	Primary B cells from cord blood	blood
40	chr1:154172000-154178400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:154172000-154178400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:154172000-154178400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:154172000-154178400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:154172000-154178600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:154172000-154178600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:154172000-154178600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:154172000-154178600	Weak transcription	Brain Germinal Matrix	brain
48	chr1:154172000-154178600	Weak transcription	Fetal Kidney	kidney
49	chr1:154172000-154178600	Weak transcription	HSMM	muscle
50	chr1:154172000-154178800	Weak transcription	H9 Cell Line	embryonic stem cell

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