Variant report

Variant	rs72845064
Chromosome Location	chr6:27654970-27654971
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27559025..27560718-chr6:27653331..27656285,2	K562	blood:
2	chr6:27635489..27641593-chr6:27648456..27655439,10	K562	blood:
3	chr6:27653789..27659338-chr6:27659392..27663401,13	K562	blood:
4	chr6:27644939..27650269-chr6:27651814..27657274,7	K562	blood:
5	chr6:27486558..27487262-chr6:27654877..27655530,2	MCF-7	breast:
6	chr6:27568300..27570576-chr6:27654240..27656534,2	K562	blood:
7	chr6:27598725..27601418-chr6:27654092..27655925,2	K562	blood:
8	chr6:27637832..27638430-chr6:27654490..27655382,2	K562	blood:
9	chr6:27654225..27656931-chr6:27719778..27721751,2	K562	blood:
10	chr6:27585095..27585874-chr6:27654939..27655471,2	MCF-7	breast:
11	chr6:27104177..27107088-chr6:27654712..27657071,2	K562	blood:
12	chr6:27653465..27656102-chr6:27740718..27743462,2	K562	blood:
13	chr6:27651170..27656145-chr6:27660253..27663653,4	MCF-7	breast:
14	chr6:27652290..27655444-chr6:27857919..27861967,3	K562	blood:
15	chr6:27585038..27585933-chr6:27654899..27655854,3	MCF-7	breast:
16	chr6:27596183..27599052-chr6:27654192..27655700,2	K562	blood:
17	chr6:27652463..27655224-chr6:27720018..27721922,3	K562	blood:
18	chr6:27654652..27657286-chr6:27777694..27780046,3	K562	blood:
19	chr6:27114783..27117247-chr6:27654285..27656648,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196331	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000238648	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000265565	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17693877	0.86[EUR][1000 genomes]
rs56099947	0.81[AMR][1000 genomes]
rs59701161	0.80[EUR][1000 genomes]
rs60888769	0.81[AMR][1000 genomes]
rs71546544	0.81[AMR][1000 genomes]
rs72841397	0.81[AMR][1000 genomes]
rs72841398	0.81[AMR][1000 genomes]
rs72841399	0.81[AMR][1000 genomes]
rs72841400	0.81[AMR][1000 genomes]
rs72845006	0.81[AMR][1000 genomes]
rs72845008	0.81[AMR][1000 genomes]
rs72845011	0.81[AMR][1000 genomes]
rs72845012	0.81[AMR][1000 genomes]
rs72845016	0.89[AMR][1000 genomes]
rs72845025	0.81[AMR][1000 genomes]
rs72845027	0.81[AMR][1000 genomes]
rs72845028	0.81[AMR][1000 genomes]
rs72845030	0.81[AMR][1000 genomes]
rs72845031	0.81[AMR][1000 genomes]
rs72845032	0.89[AMR][1000 genomes]
rs72845042	0.81[AMR][1000 genomes]
rs72845044	0.81[AMR][1000 genomes]
rs72845050	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72845051	0.80[EUR][1000 genomes]
rs72845058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845061	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72845062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845068	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72845896	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72847322	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72847323	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72847329	0.86[EUR][1000 genomes]
rs9380018	0.84[EUR][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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv525669	chr6:27623511-27657647	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv883511	chr6:27623511-27660508	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2830157	chr6:27634640-27657647	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv518945	chr6:27634640-27668013	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27649200-27655000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:27652200-27655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:27652200-27655000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:27652400-27655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:27652400-27655000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:27652400-27655000	Weak transcription	GM12878-XiMat	blood
7	chr6:27652600-27655000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:27652800-27655000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:27653000-27655000	Weak transcription	Right Atrium	heart
10	chr6:27653600-27656600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:27654200-27656600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr6:27654600-27655000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr6:27654600-27655000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:27654600-27655000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:27654600-27656400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr6:27654600-27656600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:27654800-27655000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:27654800-27655000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr6:27654800-27655000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:27654800-27655000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:27654800-27655000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:27654800-27655000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:27654800-27655000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:27654800-27655000	Flanking Active TSS	Hela-S3	cervix
25	chr6:27654800-27655000	Active TSS	HepG2	liver
26	chr6:27654800-27655000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
27	chr6:27654800-27655000	Enhancers	NH-A	brain
28	chr6:27654800-27655200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
29	chr6:27654800-27655200	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr6:27654800-27655400	Flanking Active TSS	NHEK	skin
31	chr6:27654800-27656000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:27654800-27656200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:27654800-27656400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:27654800-27656400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:27654800-27656400	Active TSS	HMEC	breast
36	chr6:27654800-27656600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:27654800-27656600	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr6:27654800-27656600	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr6:27654800-27656600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:27654800-27656600	Active TSS	A549	lung
41	chr6:27654800-27656600	Flanking Active TSS	Dnd41	blood
42	chr6:27654800-27657200	Active TSS	K562	blood

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