Variant report

Variant	rs2107182
Chromosome Location	chr4:7764821-7764822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7762684..7766410-chr4:7766886..7769453,3	MCF-7	breast:
2	chr4:7764728..7766346-chr4:7767900..7769988,2	K562	blood:
3	chr4:7763518..7765099-chr4:7771981..7774242,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10015031	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10025154	0.82[ASN][1000 genomes]
rs10029941	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap]
rs10032821	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12645231	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13109291	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs1557817	0.80[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[ASN][1000 genomes]
rs16841211	0.82[ASN][1000 genomes]
rs16841229	0.82[ASN][1000 genomes]
rs2018399	0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2240057	0.85[CHD][hapmap]
rs28460880	0.82[ASN][1000 genomes]
rs28729246	0.82[ASN][1000 genomes]
rs4234829	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4388087	0.85[CHB][hapmap]
rs4404542	0.85[CHB][hapmap]
rs4413405	0.85[CHB][hapmap]
rs4689161	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6446619	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6827395	0.80[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6828807	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs6829473	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6838291	0.82[CHB][hapmap]
rs6852990	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs756255	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap]
rs9790401	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9917925	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer 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	8 gene(s)	inside rSNPs	diseases
5	nsv878575	chr4:7715181-7767755	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv878577	chr4:7757650-7771201	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv822468	chr4:7764413-7764868	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2107182	CRMP1	cis	cerebellum	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7740200-7765000	Weak transcription	Aorta	Aorta
2	chr4:7746200-7772000	Weak transcription	Brain Anterior Caudate	brain
3	chr4:7749400-7765600	Weak transcription	Fetal Brain Male	brain
4	chr4:7749400-7767000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:7752800-7767400	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:7754200-7765400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:7755400-7768400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:7756000-7766000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:7756400-7767800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:7756600-7768000	Weak transcription	Brain Angular Gyrus	brain
11	chr4:7757000-7772000	Strong transcription	Brain Germinal Matrix	brain
12	chr4:7757600-7765400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:7757600-7765400	Strong transcription	Osteobl	bone
14	chr4:7757600-7770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:7757600-7779600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:7757800-7768200	Weak transcription	Fetal Heart	heart
17	chr4:7757800-7768600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:7757800-7772000	Strong transcription	Fetal Intestine Small	intestine
19	chr4:7758000-7780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:7758200-7783200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:7758400-7795400	Weak transcription	Hela-S3	cervix
22	chr4:7758600-7780600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:7759400-7790400	Weak transcription	Psoas Muscle	Psoas
24	chr4:7759800-7771600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:7759800-7773800	Weak transcription	Fetal Kidney	kidney
26	chr4:7760000-7770000	Strong transcription	Fetal Stomach	stomach
27	chr4:7760000-7783000	Strong transcription	HSMMtube	muscle
28	chr4:7760000-7783200	Strong transcription	HSMM	muscle
29	chr4:7760200-7768800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:7760200-7774200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:7760200-7779400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:7760400-7765000	Weak transcription	Spleen	Spleen
33	chr4:7760400-7767200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:7760400-7768400	Weak transcription	Left Ventricle	heart
35	chr4:7760400-7780400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:7760600-7765400	Strong transcription	HUVEC	blood vessel
37	chr4:7760600-7780000	Weak transcription	Right Atrium	heart
38	chr4:7761000-7767800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr4:7761000-7780400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:7761200-7766000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:7761200-7769800	Weak transcription	Small Intestine	intestine
42	chr4:7761200-7770600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr4:7761200-7772000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:7761200-7781000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:7761400-7765600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:7761400-7773400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr4:7761400-7784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:7761600-7767800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:7761600-7769200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr4:7761800-7767800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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