Variant report

Variant	rs1503863
Chromosome Location	chr4:148545425-148545426
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148542240..148544563-chr4:148545277..148546786,2	K562	blood:
2	chr4:148544238..148546653-chr4:148547718..148550909,3	K562	blood:
3	chr4:148537066..148539928-chr4:148545033..148546567,2	MCF-7	breast:
4	chr4:148545096..148546653-chr4:148547913..148549905,2	K562	blood:

Variant related genes	Relation type
ENSG00000164168	Chromatin interaction
ENSG00000251298	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10003944	1.00[EUR][1000 genomes]
rs10012917	1.00[EUR][1000 genomes]
rs10017079	1.00[EUR][1000 genomes]
rs10019644	1.00[EUR][1000 genomes]
rs10020557	1.00[EUR][1000 genomes]
rs10024734	1.00[EUR][1000 genomes]
rs10031628	1.00[EUR][1000 genomes]
rs10032638	1.00[EUR][1000 genomes]
rs10305926	1.00[EUR][1000 genomes]
rs1105266	1.00[EUR][1000 genomes]
rs11933787	1.00[EUR][1000 genomes]
rs11935436	1.00[EUR][1000 genomes]
rs11939191	1.00[EUR][1000 genomes]
rs11940536	1.00[EUR][1000 genomes]
rs1517135	1.00[EUR][1000 genomes]
rs17023736	1.00[EUR][1000 genomes]
rs2036499	1.00[EUR][1000 genomes]
rs2036502	1.00[EUR][1000 genomes]
rs2358096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718451	1.00[EUR][1000 genomes]
rs28551143	1.00[EUR][1000 genomes]
rs6535551	1.00[EUR][1000 genomes]
rs6824884	1.00[EUR][1000 genomes]
rs6854158	1.00[EUR][1000 genomes]
rs7673515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7681275	1.00[EUR][1000 genomes]
rs9308219	1.00[EUR][1000 genomes]
rs9308220	1.00[EUR][1000 genomes]
rs9308221	1.00[EUR][1000 genomes]
rs931779	1.00[EUR][1000 genomes]
rs9884319	1.00[EUR][1000 genomes]
rs9884495	1.00[EUR][1000 genomes]
rs9997823	1.00[EUR][1000 genomes]
rs9999853	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1019205	chr4:148524852-148576265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking 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	4 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	chr4:148539400-148547000	Weak transcription	Lung	lung
2	chr4:148539400-148547200	Weak transcription	Esophagus	oesophagus
3	chr4:148539400-148548200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:148539400-148576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:148539600-148546800	Weak transcription	Colonic Mucosa	Colon
6	chr4:148539600-148547000	Weak transcription	Aorta	Aorta
7	chr4:148539600-148547800	Weak transcription	HSMMtube	muscle
8	chr4:148539600-148554200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:148539800-148546600	Weak transcription	NHLF	lung
10	chr4:148539800-148547600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:148539800-148550000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:148539800-148557200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:148540200-148547000	Weak transcription	Pancreas	Pancrea
14	chr4:148540800-148561000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:148541000-148549600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr4:148541400-148546000	Weak transcription	Brain Substantia Nigra	brain
17	chr4:148541400-148546400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:148541400-148554800	Weak transcription	A549	lung
19	chr4:148541400-148563400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:148541600-148546400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:148542200-148545600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:148542200-148546000	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:148542200-148547000	Weak transcription	Thymus	Thymus
24	chr4:148542200-148564200	Strong transcription	Fetal Thymus	thymus
25	chr4:148542400-148545800	Weak transcription	NHEK	skin
26	chr4:148542400-148546000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:148542400-148546000	Weak transcription	Hela-S3	cervix
28	chr4:148542400-148547000	Weak transcription	Gastric	stomach
29	chr4:148542400-148547600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:148542400-148547600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:148542400-148548000	Weak transcription	Psoas Muscle	Psoas
32	chr4:148542400-148560400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr4:148542400-148562200	Weak transcription	Fetal Brain Male	brain
34	chr4:148542400-148575000	Weak transcription	Small Intestine	intestine
35	chr4:148542400-148576600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:148542600-148545800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:148542600-148546800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:148542600-148546800	Weak transcription	Ovary	ovary
39	chr4:148542600-148547600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:148542600-148547600	Weak transcription	K562	blood
41	chr4:148542600-148554000	Weak transcription	Brain Anterior Caudate	brain
42	chr4:148542600-148557000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:148542600-148565200	Weak transcription	Fetal Heart	heart
44	chr4:148542600-148567400	Weak transcription	Stomach Mucosa	stomach
45	chr4:148542800-148548400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:148542800-148549400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:148543000-148546000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:148543000-148547200	Weak transcription	Fetal Lung	lung
49	chr4:148543000-148560400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:148543200-148550800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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