Variant report

Variant	rs331446
Chromosome Location	chr11:36446712-36446713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36440676..36443131-chr11:36444698..36447631,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1863398	0.83[CHB][hapmap]
rs2422251	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs744895	0.93[CEU][hapmap];0.82[LWK][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs744896	0.87[CEU][hapmap];0.84[LWK][hapmap];0.83[MKK][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs746762	0.87[CEU][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs750940	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs754005	0.87[CEU][hapmap];0.90[LWK][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs7945831	0.84[LWK][hapmap];0.80[MKK][hapmap]
rs7952013	0.93[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs331446	EIF3M	cis	cerebellum	SCAN
rs331446	PAMR1	cis	cerebellum	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
3	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:36420400-36453200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:36431200-36453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:36432000-36467800	Weak transcription	Esophagus	oesophagus
7	chr11:36432600-36452200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:36433200-36448600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:36433400-36452600	Weak transcription	Left Ventricle	heart
10	chr11:36433800-36471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:36435000-36447600	Weak transcription	Brain Substantia Nigra	brain
12	chr11:36435000-36448400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:36435200-36453400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:36435200-36463200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:36438000-36450200	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:36439600-36447000	Weak transcription	Primary B cells from cord blood	blood
17	chr11:36440800-36452200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:36441000-36447000	Weak transcription	Ovary	ovary
19	chr11:36441000-36447200	Weak transcription	Spleen	Spleen
20	chr11:36441000-36449400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:36441200-36447400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:36442200-36451800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:36442600-36449400	Weak transcription	Right Atrium	heart
24	chr11:36442600-36451200	Weak transcription	NHEK	skin
25	chr11:36442600-36462200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:36442800-36447200	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:36443000-36447400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr11:36443000-36453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:36443400-36446800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr11:36443400-36447000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:36443400-36447000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr11:36443400-36448200	Weak transcription	A549	lung
33	chr11:36443600-36447000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:36443600-36448000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:36443600-36448600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:36443600-36449200	Weak transcription	HMEC	breast
37	chr11:36443600-36451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:36443600-36451800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:36443600-36452600	Weak transcription	NHDF-Ad	bronchial
40	chr11:36443600-36453200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:36443800-36447200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:36443800-36447200	Weak transcription	HSMM	muscle
43	chr11:36443800-36447400	Weak transcription	Adipose Nuclei	Adipose
44	chr11:36443800-36447400	Strong transcription	Fetal Intestine Small	intestine
45	chr11:36443800-36448200	Weak transcription	Osteobl	bone
46	chr11:36443800-36450200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:36443800-36457400	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:36444000-36447000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:36444000-36447000	Weak transcription	Fetal Thymus	thymus
50	chr11:36444000-36447400	Strong transcription	Fetal Intestine Large	intestine

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