Variant report

Variant	rs4944532
Chromosome Location	chr11:85352368-85352369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85337741..85343545-chr11:85345780..85354384,11	MCF-7	breast:
2	chr11:85347047..85348575-chr11:85349849..85352834,2	MCF-7	breast:
3	chr11:85338250..85341391-chr11:85347882..85353212,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171204	Chromatin interaction
ENSG00000150672	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10501595	0.96[ASN][1000 genomes]
rs11604028	0.85[ASN][1000 genomes]
rs11820071	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1192	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1214001	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12417341	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12419172	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17148254	0.97[ASN][1000 genomes]
rs17148293	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17148306	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17208492	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17208519	0.96[ASN][1000 genomes]
rs17810659	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1892872	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1991923	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2162055	0.92[ASN][1000 genomes]
rs2290823	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2467059	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs290177	0.85[ASN][1000 genomes]
rs290178	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs290182	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs290186	0.90[ASN][1000 genomes]
rs35097455	0.81[ASN][1000 genomes]
rs35844123	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4280023	0.84[ASN][1000 genomes]
rs4943925	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4944527	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4944529	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4944531	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs497698	0.90[ASN][1000 genomes]
rs55739259	0.84[ASN][1000 genomes]
rs56073783	0.86[ASN][1000 genomes]
rs56238215	0.81[ASN][1000 genomes]
rs56579	0.87[ASN][1000 genomes]
rs56737296	0.84[ASN][1000 genomes]
rs57223077	0.86[ASN][1000 genomes]
rs58152312	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58931064	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60838923	0.89[ASN][1000 genomes]
rs61133973	0.82[ASN][1000 genomes]
rs61286868	0.85[ASN][1000 genomes]
rs6592252	0.93[ASN][1000 genomes]
rs6592253	0.93[ASN][1000 genomes]
rs7108132	0.93[ASN][1000 genomes]
rs7108137	0.86[ASN][1000 genomes]
rs7115250	0.95[ASN][1000 genomes]
rs7119617	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7939217	0.90[ASN][1000 genomes]
rs7943586	0.96[ASN][1000 genomes]
rs881121	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs947861	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs947862	0.97[ASN][1000 genomes]
rs947863	0.97[ASN][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	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85340200-85352400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:85340600-85352800	Weak transcription	Fetal Brain Male	brain
3	chr11:85340600-85358200	Weak transcription	Aorta	Aorta
4	chr11:85340800-85358200	Weak transcription	Fetal Stomach	stomach
5	chr11:85340800-85358200	Weak transcription	Right Ventricle	heart
6	chr11:85340800-85358200	Weak transcription	HSMMtube	muscle
7	chr11:85341200-85354400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:85341200-85358000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:85341200-85358000	Weak transcription	NHLF	lung
10	chr11:85341200-85358200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:85341200-85358200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:85341200-85358200	Weak transcription	Spleen	Spleen
13	chr11:85341200-85358400	Weak transcription	Small Intestine	intestine
14	chr11:85341400-85354200	Weak transcription	Fetal Intestine Small	intestine
15	chr11:85341800-85353000	Weak transcription	Fetal Heart	heart
16	chr11:85342200-85358200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:85342400-85352600	Weak transcription	Psoas Muscle	Psoas
18	chr11:85342800-85352600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:85345800-85358000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:85346000-85354400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:85346000-85358000	Weak transcription	HMEC	breast
22	chr11:85346000-85358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:85346000-85358200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:85346000-85358200	Weak transcription	Brain Angular Gyrus	brain
25	chr11:85346000-85358200	Weak transcription	Brain Substantia Nigra	brain
26	chr11:85346000-85358200	Weak transcription	Fetal Lung	lung
27	chr11:85346000-85358200	Weak transcription	NHEK	skin
28	chr11:85346400-85352600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:85346400-85354200	Weak transcription	Hela-S3	cervix
30	chr11:85346400-85358000	Weak transcription	HepG2	liver
31	chr11:85346400-85358200	Weak transcription	Lung	lung
32	chr11:85346600-85358200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr11:85346800-85358000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:85346800-85358200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:85347200-85357800	Weak transcription	GM12878-XiMat	blood
36	chr11:85347200-85358200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:85347400-85358000	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:85347400-85358000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:85347600-85354200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:85347600-85358000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:85347600-85358200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:85347600-85358200	Weak transcription	Brain Anterior Caudate	brain
43	chr11:85347800-85354400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:85347800-85358000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:85347800-85358200	Weak transcription	Placenta	Placenta
46	chr11:85348000-85353200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:85348000-85358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:85348200-85358200	Weak transcription	NHDF-Ad	bronchial
49	chr11:85348200-85358400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:85348400-85358000	Weak transcription	Fetal Kidney	kidney

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