Variant report

Variant	rs55753565
Chromosome Location	chr1:160074736-160074737
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160071920..160073465-chr1:160074068..160076478,2	K562	blood:
2	chr1:160071459..160074798-chr1:160230293..160234240,4	K562	blood:
3	chr1:160074657..160076797-chr1:160230314..160232456,2	MCF-7	breast:
4	chr1:160071153..160073617-chr1:160073631..160075783,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228606	Chromatin interaction
ENSG00000132716	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11265317	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11265328	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1131891	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1186675	0.82[EUR][1000 genomes]
rs12401984	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12402134	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12402888	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12408584	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12727520	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17846705	0.83[AFR][1000 genomes]
rs1884998	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747619	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3761684	0.80[EUR][1000 genomes]
rs41265757	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56187338	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56211999	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61822013	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61822015	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3327316	chr1:159985477-160151281	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv520189	chr1:160011512-160095625	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1806746	chr1:160029416-160105927	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1824420	chr1:160029416-160105927	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv1843994	chr1:160029416-160105927	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv534066	chr1:160029416-160105986	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
7	esv1794281	chr1:160029416-160111565	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	esv1820784	chr1:160029416-160159395	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv534165	chr1:160029416-160187302	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160069200-160074800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:160069400-160075600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:160069400-160075600	Enhancers	Fetal Muscle Leg	muscle
4	chr1:160070400-160074800	Enhancers	Fetal Muscle Trunk	muscle
5	chr1:160070400-160075000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:160070600-160074800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:160071000-160074800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:160071000-160074800	Enhancers	Fetal Lung	lung
9	chr1:160071000-160074800	Enhancers	Fetal Stomach	stomach
10	chr1:160071000-160074800	Enhancers	HSMMtube	muscle
11	chr1:160071200-160074800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:160071200-160074800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:160071200-160077600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:160071400-160074800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr1:160071400-160075400	Enhancers	Brain Substantia Nigra	brain
16	chr1:160071400-160075600	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:160071400-160078400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:160071600-160074800	Enhancers	Rectal Smooth Muscle	rectum
19	chr1:160071600-160075000	Enhancers	Brain Angular Gyrus	brain
20	chr1:160071600-160075000	Enhancers	Colon Smooth Muscle	Colon
21	chr1:160072400-160074800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr1:160072600-160075200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:160072600-160077000	Weak transcription	K562	blood
24	chr1:160072600-160078600	Weak transcription	Fetal Heart	heart
25	chr1:160072800-160074800	Enhancers	Stomach Smooth Muscle	stomach
26	chr1:160072800-160078400	Weak transcription	Lung	lung
27	chr1:160072800-160083200	Weak transcription	Right Atrium	heart
28	chr1:160073000-160074800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:160073000-160078400	Weak transcription	Left Ventricle	heart
30	chr1:160073200-160078400	Weak transcription	A549	lung
31	chr1:160073200-160078600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:160073200-160078800	Weak transcription	Adipose Nuclei	Adipose
33	chr1:160073400-160078800	Weak transcription	Fetal Kidney	kidney
34	chr1:160073600-160074800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:160073800-160074800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:160073800-160074800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr1:160073800-160075400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:160074000-160079000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:160074200-160075000	Enhancers	Placenta	Placenta
40	chr1:160074200-160075000	Enhancers	HepG2	liver
41	chr1:160074200-160078400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:160074200-160078600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:160074200-160081800	Weak transcription	Right Ventricle	heart
44	chr1:160074400-160074800	Enhancers	Spleen	Spleen
45	chr1:160074400-160078400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:160074400-160078400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:160074400-160078400	Weak transcription	Ovary	ovary
48	chr1:160074400-160078600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:160074400-160078800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:160074400-160083200	Weak transcription	Aorta	Aorta

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