Variant report

Variant	rs1194592
Chromosome Location	chr1:154324384-154324385
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154321971..154324545-chr1:154326207..154328422,3	MCF-7	breast:
2	chr1:154321735..154323249-chr1:154324165..154326087,2	MCF-7	breast:
3	chr1:154323094..154325358-chr1:154357953..154361791,3	K562	blood:
4	chr1:154314633..154318404-chr1:154324088..154325783,3	K562	blood:
5	chr1:154190008..154193329-chr1:154323255..154327327,4	K562	blood:
6	chr1:154320515..154323145-chr1:154323844..154326958,4	K562	blood:
7	chr1:154192255..154193961-chr1:154323093..154325348,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143569	Chromatin interaction
ENSG00000143612	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10908831	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11265604	0.90[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs1194584	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1194585	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1194586	0.91[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1194587	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1194607	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1194608	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12029292	0.91[ASN][1000 genomes]
rs12033720	0.84[CEU][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12121085	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs1685606	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1685634	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1685635	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1760794	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1760795	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1889312	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2483712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633433	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28409746	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34870927	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72696290	0.89[ASN][1000 genomes]
rs7514026	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154303200-154324600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:154307600-154324600	Weak transcription	Right Atrium	heart
3	chr1:154312200-154325200	Weak transcription	Fetal Kidney	kidney
4	chr1:154319000-154324400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr1:154319000-154324800	Weak transcription	Fetal Heart	heart
6	chr1:154319200-154324600	Weak transcription	Small Intestine	intestine
7	chr1:154321800-154324600	Weak transcription	Esophagus	oesophagus
8	chr1:154321800-154324600	Enhancers	Stomach Mucosa	stomach
9	chr1:154321800-154324800	Weak transcription	GM12878-XiMat	blood
10	chr1:154321800-154325400	Weak transcription	Aorta	Aorta
11	chr1:154322000-154324800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:154322200-154324400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:154322200-154324600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:154322200-154324800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:154322200-154324800	Weak transcription	NH-A	brain
16	chr1:154322200-154325000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:154322400-154324400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:154322400-154324400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:154322400-154324600	Weak transcription	Adipose Nuclei	Adipose
20	chr1:154322400-154324600	Weak transcription	Brain Anterior Caudate	brain
21	chr1:154322400-154324600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:154322400-154324600	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:154322400-154324600	Weak transcription	HSMMtube	muscle
24	chr1:154322400-154324800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:154322400-154324800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:154322400-154324800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:154322400-154324800	Weak transcription	Brain Angular Gyrus	brain
28	chr1:154322400-154324800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:154322400-154324800	Weak transcription	Brain Substantia Nigra	brain
30	chr1:154322400-154324800	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:154322400-154324800	Weak transcription	Left Ventricle	heart
32	chr1:154322400-154324800	Weak transcription	Thymus	Thymus
33	chr1:154322400-154324800	Weak transcription	HSMM	muscle
34	chr1:154322400-154324800	Weak transcription	HUVEC	blood vessel
35	chr1:154322400-154324800	Weak transcription	NHDF-Ad	bronchial
36	chr1:154322400-154324800	Weak transcription	NHEK	skin
37	chr1:154322400-154325000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:154322600-154324600	Weak transcription	Lung	lung
39	chr1:154322600-154324600	Weak transcription	Right Ventricle	heart
40	chr1:154322600-154324800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:154322600-154324800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:154322600-154324800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:154322600-154324800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:154322600-154324800	Weak transcription	Osteobl	bone
45	chr1:154322800-154324600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:154322800-154324800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr1:154323000-154324600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:154323000-154324600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:154323000-154324600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:154323000-154324600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links