Variant report

Variant	rs4149222
Chromosome Location	chr1:226018027-226018028
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226016918..226019631-chr1:226062636..226064658,2	K562	blood:
2	chr1:226011523..226014376-chr1:226017221..226018923,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143819	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11587295	1.00[AFR][1000 genomes]
rs11587753	1.00[AFR][1000 genomes]
rs11588167	1.00[AFR][1000 genomes]
rs11588197	1.00[AFR][1000 genomes]
rs11588766	1.00[AFR][1000 genomes]
rs12568108	1.00[AFR][1000 genomes]
rs3738045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3753658	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3753659	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3753660	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs45607741	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56187333	1.00[AFR][1000 genomes]
rs61837988	1.00[AFR][1000 genomes]
rs61837989	1.00[AFR][1000 genomes]
rs61837991	1.00[AFR][1000 genomes]
rs61837993	1.00[AFR][1000 genomes]
rs61837995	1.00[AFR][1000 genomes]
rs61837996	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv945328	chr1:226015604-226031170	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226000000-226019400	Weak transcription	Fetal Brain Female	brain
2	chr1:226001800-226019200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:226005600-226019400	Weak transcription	Brain Germinal Matrix	brain
4	chr1:226005800-226019200	Weak transcription	NHLF	lung
5	chr1:226005800-226019400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:226005800-226019400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:226006200-226019400	Weak transcription	HSMM	muscle
8	chr1:226006200-226022000	Weak transcription	NHDF-Ad	bronchial
9	chr1:226006400-226018600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:226006400-226019400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:226006400-226019600	Weak transcription	Hela-S3	cervix
12	chr1:226008800-226019400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:226010800-226019200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:226013400-226019200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:226013400-226019200	Weak transcription	Brain Angular Gyrus	brain
16	chr1:226013400-226031800	Weak transcription	Fetal Kidney	kidney
17	chr1:226013600-226019200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:226013600-226052600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:226013800-226019200	Weak transcription	Osteobl	bone
20	chr1:226013800-226019400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:226013800-226019400	Weak transcription	HSMMtube	muscle
22	chr1:226013800-226032000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:226013800-226037200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:226014000-226032800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:226014400-226019400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:226014400-226021200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:226014600-226020000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:226014600-226022400	Weak transcription	Right Atrium	heart
29	chr1:226014600-226035600	Weak transcription	Small Intestine	intestine
30	chr1:226014800-226047800	Weak transcription	Psoas Muscle	Psoas
31	chr1:226015000-226022400	Weak transcription	Right Ventricle	heart
32	chr1:226015000-226022400	Weak transcription	Stomach Mucosa	stomach
33	chr1:226015400-226026400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:226015400-226032400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:226015400-226033200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:226015600-226019200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:226015600-226019400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:226015600-226021400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr1:226015600-226033600	Weak transcription	K562	blood
40	chr1:226015800-226018600	Strong transcription	Fetal Muscle Leg	muscle
41	chr1:226016000-226051000	Weak transcription	NH-A	brain
42	chr1:226016200-226020600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:226016400-226018200	Strong transcription	Brain Cingulate Gyrus	brain
44	chr1:226016400-226021000	Strong transcription	Ovary	ovary
45	chr1:226016400-226021400	Strong transcription	Brain Hippocampus Middle	brain
46	chr1:226016400-226022000	Strong transcription	Fetal Stomach	stomach
47	chr1:226016400-226033400	Strong transcription	Fetal Intestine Small	intestine
48	chr1:226016600-226018200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:226016600-226018400	Strong transcription	Left Ventricle	heart
50	chr1:226016600-226018600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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