Variant report

Variant	rs7122987
Chromosome Location	chr11:85357174-85357175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:85357034-85357234	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85337127..85343160-chr11:85357064..85364111,20	MCF-7	breast:
2	chr11:85338390..85343522-chr11:85356567..85360273,9	MCF-7	breast:

Variant related genes	Relation type
TMEM126A	TF binding region
ENSG00000171204	Chromatin interaction
ENSG00000150672	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10501593	0.92[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12099145	0.92[YRI][hapmap];0.85[AMR][1000 genomes]
rs17148234	0.85[AMR][1000 genomes]
rs17148242	0.84[YRI][hapmap];0.85[AMR][1000 genomes]
rs17148285	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17148316	0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56047795	0.85[AMR][1000 genomes]
rs56401259	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56838978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57309067	0.85[AMR][1000 genomes]
rs57313830	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57361884	0.85[AMR][1000 genomes]
rs60032790	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60192818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60734322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60865542	0.82[AFR][1000 genomes]
rs61169921	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61180955	0.85[AMR][1000 genomes]
rs61198962	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61465434	0.85[AMR][1000 genomes]
rs6592254	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6592256	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6592257	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7116532	0.85[AMR][1000 genomes]
rs7116553	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs744173	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs7938991	0.92[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7942218	0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs7946793	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7949114	1.00[AMR][1000 genomes]
rs7952219	1.00[AMR][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85340600-85358200	Weak transcription	Aorta	Aorta
2	chr11:85340800-85358200	Weak transcription	Fetal Stomach	stomach
3	chr11:85340800-85358200	Weak transcription	Right Ventricle	heart
4	chr11:85340800-85358200	Weak transcription	HSMMtube	muscle
5	chr11:85341200-85358000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:85341200-85358000	Weak transcription	NHLF	lung
7	chr11:85341200-85358200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:85341200-85358200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:85341200-85358200	Weak transcription	Spleen	Spleen
10	chr11:85341200-85358400	Weak transcription	Small Intestine	intestine
11	chr11:85342200-85358200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:85345800-85358000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:85346000-85358000	Weak transcription	HMEC	breast
14	chr11:85346000-85358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:85346000-85358200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:85346000-85358200	Weak transcription	Brain Angular Gyrus	brain
17	chr11:85346000-85358200	Weak transcription	Brain Substantia Nigra	brain
18	chr11:85346000-85358200	Weak transcription	Fetal Lung	lung
19	chr11:85346000-85358200	Weak transcription	NHEK	skin
20	chr11:85346400-85358000	Weak transcription	HepG2	liver
21	chr11:85346400-85358200	Weak transcription	Lung	lung
22	chr11:85346600-85358200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:85346800-85358000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:85346800-85358200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:85347200-85357800	Weak transcription	GM12878-XiMat	blood
26	chr11:85347200-85358200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:85347400-85358000	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:85347400-85358000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:85347600-85358000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:85347600-85358200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:85347600-85358200	Weak transcription	Brain Anterior Caudate	brain
32	chr11:85347800-85358000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:85347800-85358200	Weak transcription	Placenta	Placenta
34	chr11:85348000-85358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:85348200-85358200	Weak transcription	NHDF-Ad	bronchial
36	chr11:85348200-85358400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:85348400-85358000	Weak transcription	Fetal Kidney	kidney
38	chr11:85348400-85358200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:85348400-85358200	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:85348600-85358000	Weak transcription	K562	blood
41	chr11:85348600-85358200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:85348800-85358000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:85348800-85358000	Weak transcription	Liver	Liver
44	chr11:85348800-85358000	Weak transcription	A549	lung
45	chr11:85348800-85358400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:85349000-85358200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:85349000-85358400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:85349200-85358000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:85349400-85357800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:85349400-85358000	Weak transcription	Dnd41	blood

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