Variant report

Variant	rs72921231
Chromosome Location	chr6:35589637-35589638
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	chr6:35568378..35571092-chr6:35588420..35590433,2	K562	blood:
2	chr6:35587727..35590044-chr6:35594516..35597168,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10498734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11545925	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12526404	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12527303	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12527329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12527893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12528458	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12529688	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12665445	1.00[AFR][1000 genomes]
rs1334894	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16877540	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs16878812	0.84[AMR][1000 genomes]
rs1807142	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1883637	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1977654	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1977655	0.94[EUR][1000 genomes]
rs2103680	1.00[AFR][1000 genomes]
rs2294807	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55791123	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs55922240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56062505	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56313753	1.00[AFR][1000 genomes]
rs56318292	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56353810	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6906096	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6906359	0.83[AMR][1000 genomes]
rs72894781	1.00[AFR][1000 genomes]
rs72894784	1.00[AFR][1000 genomes]
rs72899748	0.82[EUR][1000 genomes]
rs72899772	0.85[EUR][1000 genomes]
rs72899794	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72899796	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72911380	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72911394	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72911397	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72913405	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72913412	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72913417	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72913427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs747411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs755658	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7754668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756437	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7765792	0.85[EUR][1000 genomes]
rs7768598	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9688674	1.00[AFR][1000 genomes]
rs9689799	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv462913	chr6:35502202-35592744	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv602923	chr6:35502202-35592744	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS 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 target site	8 gene(s)	inside rSNPs	diseases
5	nsv517211	chr6:35502202-35607571	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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
6	nsv602924	chr6:35505311-35750299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv885801	chr6:35537406-35671651	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	esv1799813	chr6:35589070-35597703	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35545000-35601800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:35569400-35591600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:35570200-35608600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:35570800-35611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:35571000-35590600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:35571000-35602400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:35571200-35611800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:35574800-35607200	Weak transcription	Hela-S3	cervix
9	chr6:35575000-35611600	Strong transcription	Liver	Liver
10	chr6:35575200-35592800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:35575600-35610400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:35577000-35592800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:35577400-35592800	Strong transcription	HSMM	muscle
14	chr6:35577400-35593000	Strong transcription	Fetal Thymus	thymus
15	chr6:35577400-35595200	Strong transcription	Left Ventricle	heart
16	chr6:35577600-35613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:35578800-35592000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:35578800-35592800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:35579200-35597200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:35579400-35601400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:35579400-35603000	Weak transcription	HSMMtube	muscle
22	chr6:35579400-35603600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:35579400-35603800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:35579600-35593000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr6:35579600-35604000	Weak transcription	Osteobl	bone
26	chr6:35579800-35592000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:35579800-35593400	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr6:35580200-35602000	Weak transcription	Fetal Intestine Large	intestine
29	chr6:35583200-35608000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:35584200-35607600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:35584600-35592800	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:35585000-35592200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:35585200-35589800	Strong transcription	Lung	lung
34	chr6:35585200-35592800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:35585600-35590200	Strong transcription	NHEK	skin
36	chr6:35585600-35610800	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:35585800-35607800	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:35586400-35606200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:35586800-35603000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:35586800-35606000	Weak transcription	Primary B cells from cord blood	blood
41	chr6:35586800-35613800	Weak transcription	Fetal Stomach	stomach
42	chr6:35587000-35590600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr6:35587000-35594600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:35587000-35607800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr6:35587000-35607800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:35587200-35606400	Weak transcription	Small Intestine	intestine
47	chr6:35587800-35590200	Genic enhancers	Primary monocytes fromperipheralblood	blood
48	chr6:35587800-35591600	Weak transcription	Right Ventricle	heart
49	chr6:35587800-35603800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:35588000-35589800	Weak transcription	GM12878-XiMat	blood

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