Variant report

Variant	rs12649666
Chromosome Location	chr4:119673704-119673705
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119672125..119675106-chr4:119676573..119679208,2	K562	blood:
2	chr4:119668086..119670543-chr4:119672730..119674481,2	K562	blood:
3	chr4:119668733..119670600-chr4:119673523..119675124,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10011672	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10014208	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10470914	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10518322	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10518323	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10518324	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11098449	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11098450	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11730993	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11736024	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500272	0.81[ASN][1000 genomes]
rs12505513	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12506295	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12506576	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12509236	0.81[ASN][1000 genomes]
rs13109947	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13109966	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13114964	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13120798	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13128195	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17050423	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34384498	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34616305	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34730066	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35868882	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3775836	0.83[ASN][1000 genomes]
rs58450672	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67175714	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7676832	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs960738	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9997799	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:119608600-119674000	Weak transcription	Stomach Mucosa	stomach
3	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
4	chr4:119630400-119674200	Weak transcription	A549	lung
5	chr4:119640800-119692600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr4:119641600-119679800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:119649200-119675200	Weak transcription	Brain Substantia Nigra	brain
8	chr4:119649200-119687600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:119649200-119693600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:119651800-119687400	Weak transcription	Thymus	Thymus
11	chr4:119654400-119687400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:119654800-119676000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:119659600-119690400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:119660400-119688200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:119660400-119689800	Weak transcription	Brain Angular Gyrus	brain
16	chr4:119661800-119684600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:119662000-119677400	Weak transcription	Fetal Kidney	kidney
18	chr4:119662000-119687600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:119662000-119694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:119663600-119675000	Weak transcription	Aorta	Aorta
21	chr4:119665200-119675000	Weak transcription	Fetal Brain Male	brain
22	chr4:119665200-119687600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:119665600-119675200	Weak transcription	Small Intestine	intestine
24	chr4:119665600-119678000	Weak transcription	Esophagus	oesophagus
25	chr4:119665800-119687400	Weak transcription	Spleen	Spleen
26	chr4:119667200-119675000	Strong transcription	Placenta	Placenta
27	chr4:119667800-119674200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:119668000-119683600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:119668000-119689800	Weak transcription	Brain Germinal Matrix	brain
30	chr4:119668200-119675400	Weak transcription	Psoas Muscle	Psoas
31	chr4:119668200-119675400	Weak transcription	Right Ventricle	heart
32	chr4:119668200-119678200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:119668200-119684000	Weak transcription	K562	blood
34	chr4:119668200-119690200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:119668400-119678400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:119669400-119677000	Weak transcription	Fetal Intestine Small	intestine
37	chr4:119669400-119679000	Strong transcription	GM12878-XiMat	blood
38	chr4:119669600-119674000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:119669800-119673800	Strong transcription	Adipose Nuclei	Adipose
40	chr4:119669800-119676000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr4:119669800-119676000	Strong transcription	HepG2	liver
42	chr4:119669800-119676400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:119670000-119674200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:119670000-119675400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:119670600-119674000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr4:119670800-119674200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:119671000-119675200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:119671000-119675400	Weak transcription	Right Atrium	heart
49	chr4:119671200-119673800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr4:119671200-119674000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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