Variant report

Variant	rs4960132
Chromosome Location	chr6:5783967-5783968
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	chr13:25557368..25557868-chr6:5783697..5784353,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1108303	0.97[EUR][1000 genomes]
rs1108304	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12528811	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13437141	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17141291	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1815271	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4291133	0.86[JPT][hapmap]
rs4960134	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4960135	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4960136	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4960137	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4960138	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55864325	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55991338	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56061157	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60232193	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60475061	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60532879	0.96[EUR][1000 genomes]
rs60625891	0.88[EUR][1000 genomes]
rs6597163	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6917712	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6919521	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72821941	0.90[EUR][1000 genomes]
rs7766672	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9504505	0.84[JPT][hapmap]

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	nsv518398	chr6:5777546-5787400	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv970669	chr6:5783028-5791204	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5753000-5786000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:5772800-5786800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:5774400-5787400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:5776400-5786800	Weak transcription	Thymus	Thymus
5	chr6:5779200-5787200	Weak transcription	Primary B cells from cord blood	blood
6	chr6:5779600-5786600	Weak transcription	Primary T cells from cord blood	blood
7	chr6:5781200-5784400	Enhancers	Fetal Muscle Leg	muscle
8	chr6:5781400-5784200	Enhancers	Fetal Muscle Trunk	muscle
9	chr6:5781600-5788000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:5781800-5786800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:5782000-5784400	Enhancers	Fetal Intestine Large	intestine
12	chr6:5782200-5784200	Enhancers	Fetal Heart	heart
13	chr6:5782200-5788200	Enhancers	Fetal Thymus	thymus
14	chr6:5782400-5784000	Enhancers	Stomach Mucosa	stomach
15	chr6:5782400-5784200	Enhancers	Right Ventricle	heart
16	chr6:5782400-5785000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:5782600-5784000	Enhancers	Fetal Brain Female	brain
18	chr6:5782600-5784200	Enhancers	Colonic Mucosa	Colon
19	chr6:5782600-5784200	Enhancers	Fetal Brain Male	brain
20	chr6:5782600-5784200	Enhancers	Fetal Intestine Small	intestine
21	chr6:5782600-5787600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:5782800-5784200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr6:5782800-5784200	Weak transcription	Small Intestine	intestine
24	chr6:5782800-5784400	Enhancers	Placenta	Placenta
25	chr6:5782800-5784800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:5783200-5784000	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr6:5783200-5784200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:5783400-5784000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr6:5783400-5784000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:5783400-5784200	Enhancers	Stomach Smooth Muscle	stomach
31	chr6:5783400-5785000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:5783600-5784000	Weak transcription	Right Atrium	heart
33	chr6:5783600-5784800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr6:5783600-5786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:5783600-5786800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:5783600-5787400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:5783800-5784000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr6:5783800-5784400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:5783800-5784400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr6:5783800-5785000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:5783800-5785800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:5783800-5786400	Weak transcription	Brain Germinal Matrix	brain
43	chr6:5783800-5787000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:5783800-5787000	Weak transcription	Left Ventricle	heart
45	chr6:5783800-5794600	Weak transcription	Psoas Muscle	Psoas

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