Variant report

Variant	rs7945996
Chromosome Location	chr11:18303169-18303170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18302739..18305264-chr11:18414921..18417198,2	MCF-7	breast:
2	chr11:18301994..18303954-chr11:18343927..18346094,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134333	Chromatin interaction
ENSG00000110768	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1046611	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10766467	0.80[EUR][1000 genomes]
rs11024601	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024602	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2271997	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3781945	0.90[AMR][1000 genomes];0.95[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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18285200-18303200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:18285600-18308400	Weak transcription	Gastric	stomach
3	chr11:18287600-18334000	Weak transcription	Right Atrium	heart
4	chr11:18290000-18303200	Weak transcription	NHEK	skin
5	chr11:18290000-18303400	Weak transcription	Small Intestine	intestine
6	chr11:18291400-18303200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:18291800-18303200	Weak transcription	Brain Angular Gyrus	brain
8	chr11:18291800-18307800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:18291800-18314400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:18292000-18303200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:18292000-18303600	Weak transcription	Brain Germinal Matrix	brain
12	chr11:18292000-18308400	Weak transcription	Right Ventricle	heart
13	chr11:18292000-18314800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:18292400-18303200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:18292400-18303200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:18293800-18303800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:18293800-18304200	Weak transcription	Brain Substantia Nigra	brain
18	chr11:18293800-18306200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:18294200-18303200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:18295200-18308000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:18295400-18303200	Weak transcription	Fetal Kidney	kidney
22	chr11:18295800-18307800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:18296000-18303200	Weak transcription	Pancreas	Pancrea
24	chr11:18296400-18303400	Weak transcription	K562	blood
25	chr11:18296800-18315400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:18297000-18307200	Weak transcription	Fetal Brain Male	brain
27	chr11:18297400-18328400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:18297800-18303400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:18298000-18303400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr11:18298200-18303200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:18298200-18303200	Weak transcription	Psoas Muscle	Psoas
32	chr11:18298200-18303400	Weak transcription	Aorta	Aorta
33	chr11:18298200-18306600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr11:18298200-18333800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:18298400-18303200	Weak transcription	NHLF	lung
36	chr11:18298600-18303400	Weak transcription	Colonic Mucosa	Colon
37	chr11:18298600-18326200	Strong transcription	Liver	Liver
38	chr11:18298800-18314200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr11:18298800-18327600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:18298800-18331600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:18299000-18306200	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:18299000-18308400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:18299200-18304800	Strong transcription	Primary T cells from cord blood	blood
44	chr11:18299200-18305800	Weak transcription	Fetal Thymus	thymus
45	chr11:18299200-18306200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr11:18299200-18322000	Strong transcription	HMEC	breast
47	chr11:18299200-18332400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:18299600-18309600	Strong transcription	NH-A	brain
49	chr11:18299600-18326200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:18299600-18334200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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