Variant report

Variant	rs62291982
Chromosome Location	chr4:7766939-7766940
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7760394..7761920-chr4:7766669..7769385,2	K562	blood:
2	chr4:7765704..7768382-chr4:7782855..7784797,2	K562	blood:
3	chr4:7762684..7766410-chr4:7766886..7769453,3	MCF-7	breast:
4	chr4:7762573..7764644-chr4:7765812..7768936,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11721583	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11724632	0.84[AFR][1000 genomes]
rs11729332	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11729602	0.91[AMR][1000 genomes]
rs11730169	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11734524	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11737447	0.87[AMR][1000 genomes]
rs13117918	0.84[AFR][1000 genomes]
rs13125295	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17382393	0.87[AMR][1000 genomes]
rs34250310	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34352176	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34949259	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35041036	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35161247	0.84[AFR][1000 genomes]
rs35509185	0.91[AMR][1000 genomes]
rs35515779	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35592594	0.84[AFR][1000 genomes]
rs35617438	0.91[AMR][1000 genomes]
rs35889107	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3934645	0.84[AFR][1000 genomes]
rs41264705	0.91[AMR][1000 genomes]
rs55698135	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56352084	0.85[AMR][1000 genomes]
rs62289280	0.84[AFR][1000 genomes]
rs62291980	0.89[AMR][1000 genomes]
rs62291983	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62291984	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs885261	0.84[AFR][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7746200-7772000	Weak transcription	Brain Anterior Caudate	brain
2	chr4:7749400-7767000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:7752800-7767400	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:7755400-7768400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:7756400-7767800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:7756600-7768000	Weak transcription	Brain Angular Gyrus	brain
7	chr4:7757000-7772000	Strong transcription	Brain Germinal Matrix	brain
8	chr4:7757600-7770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:7757600-7779600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:7757800-7768200	Weak transcription	Fetal Heart	heart
11	chr4:7757800-7768600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:7757800-7772000	Strong transcription	Fetal Intestine Small	intestine
13	chr4:7758000-7780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:7758200-7783200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:7758400-7795400	Weak transcription	Hela-S3	cervix
16	chr4:7758600-7780600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:7759400-7790400	Weak transcription	Psoas Muscle	Psoas
18	chr4:7759800-7771600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:7759800-7773800	Weak transcription	Fetal Kidney	kidney
20	chr4:7760000-7770000	Strong transcription	Fetal Stomach	stomach
21	chr4:7760000-7783000	Strong transcription	HSMMtube	muscle
22	chr4:7760000-7783200	Strong transcription	HSMM	muscle
23	chr4:7760200-7768800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:7760200-7774200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:7760200-7779400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:7760400-7767200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:7760400-7768400	Weak transcription	Left Ventricle	heart
28	chr4:7760400-7780400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:7760600-7780000	Weak transcription	Right Atrium	heart
30	chr4:7761000-7767800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr4:7761000-7780400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:7761200-7769800	Weak transcription	Small Intestine	intestine
33	chr4:7761200-7770600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:7761200-7772000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:7761200-7781000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:7761400-7773400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr4:7761400-7784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:7761600-7767800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:7761600-7769200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:7761800-7767800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:7761800-7774400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:7762000-7772000	Strong transcription	Fetal Intestine Large	intestine
43	chr4:7762000-7773800	Strong transcription	NHLF	lung
44	chr4:7762000-7788000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:7762000-7805800	Weak transcription	Stomach Mucosa	stomach
46	chr4:7762200-7770200	Strong transcription	Fetal Brain Female	brain
47	chr4:7762200-7771200	Strong transcription	NHEK	skin
48	chr4:7762200-7772800	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr4:7762400-7772200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr4:7762800-7767800	Weak transcription	Pancreas	Pancrea

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