Variant report

Variant	rs4149228
Chromosome Location	chr1:226032677-226032678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226032510..226034899-chr1:226069383..226071490,2	MCF-7	breast:
2	chr1:226032252..226033753-chr1:226185534..226188258,2	K562	blood:
3	chr1:225963673..225968224-chr1:226032543..226034938,4	MCF-7	breast:
4	chr1:226032235..226034217-chr1:226150384..226152008,2	K562	blood:
5	chr1:225964257..225969087-chr1:226030786..226035881,7	K562	blood:
6	chr1:225963873..225967033-chr1:226031330..226035962,4	MCF-7	breast:
7	chr1:226025810..226027984-chr1:226031798..226033532,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196187	Chromatin interaction
ENSG00000213032	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000143751	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10047091	0.90[EUR][1000 genomes]
rs10915874	1.00[CEU][hapmap]
rs12061043	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12071072	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12071104	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12074209	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12074247	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12075664	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236143	0.87[EUR][1000 genomes]
rs2271544	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2292556	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292559	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292560	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292561	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292568	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28384446	0.92[EUR][1000 genomes]
rs28384447	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28384448	0.95[EUR][1000 genomes]
rs28384449	0.95[EUR][1000 genomes]
rs360084	0.99[ASN][1000 genomes]
rs360087	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs360089	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3738050	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738051	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3753663	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753666	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs3753668	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs3753670	0.90[EUR][1000 genomes]
rs3766935	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766936	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.80[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766940	0.95[EUR][1000 genomes]
rs3766941	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs3806257	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3806258	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41310561	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4149227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4149230	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45467394	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56231004	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56301120	1.00[ASN][1000 genomes]
rs56325807	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57095220	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57932384	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59728172	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60847271	0.95[EUR][1000 genomes]
rs60943392	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61033712	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61227102	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61295362	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6664740	0.90[EUR][1000 genomes]
rs74150536	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7514448	0.90[EUR][1000 genomes]
rs7516538	0.90[EUR][1000 genomes]
rs805179	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv947519	chr1:225998770-226034631	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	esv1801609	chr1:226027323-226036309	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1802694	chr1:226032229-226036309	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226013600-226052600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:226013800-226037200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:226014000-226032800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:226014600-226035600	Weak transcription	Small Intestine	intestine
5	chr1:226014800-226047800	Weak transcription	Psoas Muscle	Psoas
6	chr1:226015400-226033200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:226015600-226033600	Weak transcription	K562	blood
8	chr1:226016000-226051000	Weak transcription	NH-A	brain
9	chr1:226016400-226033400	Strong transcription	Fetal Intestine Small	intestine
10	chr1:226016800-226033600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:226017400-226049800	Weak transcription	HUVEC	blood vessel
12	chr1:226020400-226033400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:226020600-226042000	Weak transcription	Hela-S3	cervix
14	chr1:226020600-226042400	Weak transcription	HSMM	muscle
15	chr1:226020800-226033400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:226020800-226033800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:226021000-226033400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:226022200-226033200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:226022200-226033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:226022800-226033800	Weak transcription	Stomach Mucosa	stomach
21	chr1:226023000-226039600	Weak transcription	NHDF-Ad	bronchial
22	chr1:226023800-226035800	Weak transcription	Fetal Brain Male	brain
23	chr1:226024000-226032800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr1:226024400-226033200	Strong transcription	Fetal Muscle Leg	muscle
25	chr1:226024600-226032800	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:226024600-226034000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:226025200-226033200	Strong transcription	A549	lung
28	chr1:226025200-226033400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:226025800-226034800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:226025800-226036400	Strong transcription	Lung	lung
31	chr1:226025800-226036400	Strong transcription	Osteobl	bone
32	chr1:226026000-226033200	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:226026000-226033400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:226026000-226034200	Strong transcription	Ovary	ovary
35	chr1:226026200-226035200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr1:226026800-226061600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:226027000-226033800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:226027200-226033600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr1:226027800-226033200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:226028600-226033800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:226029000-226033600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:226029000-226033800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:226029400-226033200	Strong transcription	Brain Anterior Caudate	brain
44	chr1:226029600-226033200	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:226029600-226033200	Strong transcription	Brain Cingulate Gyrus	brain
46	chr1:226029600-226033200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:226029600-226035600	Genic enhancers	Brain Hippocampus Middle	brain
48	chr1:226029800-226033200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:226029800-226033200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:226029800-226033200	Strong transcription	Esophagus	oesophagus

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