Variant report

Variant	rs4845632
Chromosome Location	chr1:154458932-154458933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154457376..154460470-chr1:154460552..154464074,3	K562	blood:
2	chr1:154457376..154460470-chr1:154460552..154464074,4	K562	blood:

Variant related genes	Relation type
ENSG00000169291	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10752642	0.81[YRI][hapmap]
rs1113142	1.00[EUR][1000 genomes]
rs11265605	1.00[EUR][1000 genomes]
rs11265623	0.81[AFR][1000 genomes]
rs11265627	0.81[YRI][hapmap]
rs11265630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194591	1.00[EUR][1000 genomes]
rs1194594	1.00[EUR][1000 genomes]
rs1194597	1.00[EUR][1000 genomes]
rs1194601	1.00[EUR][1000 genomes]
rs1194605	1.00[EUR][1000 genomes]
rs1205590	1.00[EUR][1000 genomes]
rs16835909	1.00[EUR][1000 genomes]
rs1685625	1.00[EUR][1000 genomes]
rs1685626	1.00[EUR][1000 genomes]
rs1817688	1.00[EUR][1000 genomes]
rs2340487	1.00[EUR][1000 genomes]
rs2633434	1.00[EUR][1000 genomes]
rs4072391	0.88[YRI][hapmap]
rs4078519	1.00[EUR][1000 genomes]
rs4240873	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4393148	0.94[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4474240	0.83[ASW][hapmap];0.83[LWK][hapmap];0.94[MKK][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs4518898	0.81[YRI][hapmap]
rs4520411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845369	1.00[EUR][1000 genomes]
rs4845635	0.82[YRI][hapmap]
rs4845646	0.89[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55649582	1.00[EUR][1000 genomes]
rs55857358	1.00[EUR][1000 genomes]
rs6427694	0.89[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6427716	0.81[YRI][hapmap]
rs6666943	1.00[EUR][1000 genomes]
rs6670375	0.81[YRI][hapmap]
rs6678164	0.94[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6681961	0.95[AFR][1000 genomes]
rs6683078	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6684225	0.94[ASW][hapmap];0.94[LWK][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6685108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687112	0.81[YRI][hapmap]
rs6691727	0.81[YRI][hapmap]
rs715737	1.00[EUR][1000 genomes]
rs7513603	0.81[YRI][hapmap]
rs7515974	0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7527520	1.00[EUR][1000 genomes]
rs7529744	1.00[MEX][hapmap]
rs7530737	0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537595	1.00[EUR][1000 genomes]
rs7539745	0.84[YRI][hapmap];0.80[AFR][1000 genomes]
rs7556118	1.00[EUR][1000 genomes]
rs9659545	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9728545	1.00[AFR][1000 genomes]
rs9804125	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154427800-154464800	Weak transcription	Ovary	ovary
2	chr1:154438400-154463400	Weak transcription	Esophagus	oesophagus
3	chr1:154441600-154465200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:154443000-154464400	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:154450000-154462400	Weak transcription	Colonic Mucosa	Colon
6	chr1:154451600-154465600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:154454000-154461800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:154455200-154461600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:154455600-154460200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:154456400-154460200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:154456600-154460200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:154457000-154459600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:154457000-154460000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr1:154457200-154459400	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:154457600-154459000	Enhancers	Placenta	Placenta
16	chr1:154457600-154459200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:154457600-154459200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:154457600-154459200	Enhancers	Fetal Lung	lung
19	chr1:154457800-154459400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:154457800-154459400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:154457800-154460200	Genic enhancers	Adipose Nuclei	Adipose
22	chr1:154458000-154459200	Enhancers	Brain Cingulate Gyrus	brain
23	chr1:154458000-154459400	Enhancers	Brain Germinal Matrix	brain
24	chr1:154458000-154459800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:154458000-154462000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:154458200-154459000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr1:154458200-154459200	Enhancers	Brain Anterior Caudate	brain
28	chr1:154458200-154459200	Enhancers	Brain Hippocampus Middle	brain
29	chr1:154458200-154459200	Enhancers	Brain Substantia Nigra	brain
30	chr1:154458200-154459200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:154458200-154459400	Enhancers	Liver	Liver
32	chr1:154458200-154460200	Enhancers	Spleen	Spleen
33	chr1:154458200-154460200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:154458400-154459000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:154458400-154459000	Enhancers	Brain Angular Gyrus	brain
36	chr1:154458400-154459000	Enhancers	Fetal Muscle Trunk	muscle
37	chr1:154458400-154459000	Enhancers	Stomach Smooth Muscle	stomach
38	chr1:154458400-154459200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr1:154458400-154459200	Enhancers	Fetal Muscle Leg	muscle
40	chr1:154458400-154459200	Genic enhancers	Fetal Stomach	stomach
41	chr1:154458400-154459200	Genic enhancers	Lung	lung
42	chr1:154458400-154459200	Enhancers	Right Atrium	heart
43	chr1:154458400-154459200	Genic enhancers	Right Ventricle	heart
44	chr1:154458400-154459200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:154458400-154459600	Genic enhancers	HUVEC	blood vessel
46	chr1:154458600-154459200	Strong transcription	Left Ventricle	heart
47	chr1:154458600-154460000	Weak transcription	Gastric	stomach
48	chr1:154458600-154462400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:154458600-154463000	Weak transcription	Psoas Muscle	Psoas
50	chr1:154458600-154469000	Weak transcription	Small Intestine	intestine

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