Variant report

Variant	rs2484442
Chromosome Location	chr1:179265257-179265258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179264767..179267490-chr1:179269682..179272613,2	K562	blood:
2	chr1:179263909..179265943-chr1:179276676..179278197,2	MCF-7	breast:
3	chr1:179264612..179267610-chr1:179271522..179273939,3	MCF-7	breast:
4	chr1:179050855..179053575-chr1:179263211..179266215,3	K562	blood:

Variant related genes	Relation type
ENSG00000186283	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10913709	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10913717	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10913723	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10913726	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11581659	0.84[ASN][1000 genomes]
rs12061572	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12066392	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12078723	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12135682	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12143460	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12730051	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12746331	0.84[ASN][1000 genomes]
rs12755434	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17277834	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2247071	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2248818	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2254098	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2265932	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2493120	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34164740	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34315375	0.84[ASN][1000 genomes]
rs4651023	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4652362	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4652363	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6425536	0.84[ASN][1000 genomes]
rs68039464	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179261800-179265800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:179263600-179266600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:179263800-179267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:179263800-179268400	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:179263800-179304600	Weak transcription	Lung	lung
6	chr1:179263800-179306400	Weak transcription	Gastric	stomach
7	chr1:179264000-179265400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:179264000-179266400	Enhancers	Small Intestine	intestine
9	chr1:179264000-179266800	Enhancers	Placenta	Placenta
10	chr1:179264000-179271400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:179264000-179279600	Weak transcription	Fetal Brain Male	brain
12	chr1:179264200-179290200	Weak transcription	Aorta	Aorta
13	chr1:179264400-179266400	Enhancers	Liver	Liver
14	chr1:179264400-179266600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:179264400-179267400	Weak transcription	Spleen	Spleen
16	chr1:179264400-179267600	Weak transcription	Fetal Thymus	thymus
17	chr1:179264400-179271400	Weak transcription	Left Ventricle	heart
18	chr1:179264600-179265600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:179264600-179266000	Enhancers	Stomach Mucosa	stomach
20	chr1:179264600-179266400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:179264600-179266600	Enhancers	Primary B cells from cord blood	blood
22	chr1:179264600-179266600	Weak transcription	Pancreas	Pancrea
23	chr1:179264600-179267800	Weak transcription	A549	lung
24	chr1:179264600-179268000	Weak transcription	Thymus	Thymus
25	chr1:179264600-179268400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:179264600-179271400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:179264600-179271400	Weak transcription	Fetal Stomach	stomach
28	chr1:179264600-179271600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:179264600-179271600	Weak transcription	Psoas Muscle	Psoas
30	chr1:179264600-179271600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:179264600-179272000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:179264600-179272800	Weak transcription	Fetal Lung	lung
33	chr1:179264600-179273400	Weak transcription	Fetal Intestine Small	intestine
34	chr1:179264600-179273400	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:179264600-179274200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:179264600-179275000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:179264600-179278600	Weak transcription	Colonic Mucosa	Colon
38	chr1:179264600-179281200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:179264600-179292000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:179264600-179304600	Weak transcription	Right Ventricle	heart
41	chr1:179264600-179310200	Weak transcription	Brain Substantia Nigra	brain
42	chr1:179264600-179314000	Weak transcription	Brain Angular Gyrus	brain
43	chr1:179264600-179314000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:179264800-179265400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:179264800-179265400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:179264800-179265600	Enhancers	GM12878-XiMat	blood
47	chr1:179264800-179265800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr1:179264800-179265800	Weak transcription	Fetal Kidney	kidney
49	chr1:179264800-179265800	Weak transcription	NHDF-Ad	bronchial
50	chr1:179264800-179266000	Enhancers	NH-A	brain

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