Variant report

Variant	rs10947565
Chromosome Location	chr6:35694926-35694927
allele	A/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35632201..35634939-chr6:35692167..35695081,2	K562	blood:
2	chr6:35435945..35437939-chr6:35694170..35698146,4	MCF-7	breast:
3	chr6:35643310..35645988-chr6:35693405..35695855,2	K562	blood:
4	chr6:35463864..35467437-chr6:35691991..35696071,4	K562	blood:
5	chr6:35689928..35692023-chr6:35693949..35695467,2	MCF-7	breast:
6	chr6:35649031..35660636-chr6:35692310..35701686,35	K562	blood:
7	chr6:35649127..35664209-chr6:35693738..35704622,45	K562	blood:
8	chr6:35678386..35681633-chr6:35693027..35696348,6	K562	blood:
9	chr6:35692072..35693972-chr6:35694350..35696021,2	MCF-7	breast:
10	chr6:35670182..35673104-chr6:35694466..35696068,2	K562	blood:
11	chr6:35654560..35658324-chr6:35694292..35699560,11	MCF-7	breast:
12	chr6:35646147..35649006-chr6:35694213..35696052,2	K562	blood:
13	chr6:35434857..35438603-chr6:35692996..35696802,4	K562	blood:
14	chr6:35464312..35466499-chr6:35694204..35696742,2	MCF-7	breast:
15	chr6:35653875..35657933-chr6:35692950..35698749,12	MCF-7	breast:
16	chr6:35464733..35466429-chr6:35694489..35696071,2	K562	blood:
17	chr6:35436055..35438159-chr6:35694441..35696005,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265527	Chromatin interaction
ENSG00000007866	Chromatin interaction
ENSG00000198755	Chromatin interaction
ENSG00000096060	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12193672	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12200498	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12203716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12206670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs45586442	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56354119	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
4	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
5	nsv821646	chr6:35604428-35802594	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv885802	chr6:35621781-35787417	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	nsv885803	chr6:35621781-35805133	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv885804	chr6:35621781-35809776	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv428143	chr6:35637083-35806504	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv1028947	chr6:35670521-35714541	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv885805	chr6:35685955-35779879	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv7890	chr6:35692021-35701911	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35688400-35695000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:35688400-35695000	Enhancers	Right Ventricle	heart
3	chr6:35688600-35695200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:35689600-35695000	Enhancers	Pancreas	Pancrea
5	chr6:35689800-35695000	Enhancers	Left Ventricle	heart
6	chr6:35689800-35695000	Enhancers	Right Atrium	heart
7	chr6:35690200-35695200	Enhancers	Spleen	Spleen
8	chr6:35690800-35699400	Weak transcription	Ovary	ovary
9	chr6:35691200-35698400	Enhancers	Lung	lung
10	chr6:35691400-35695000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:35691400-35695400	Enhancers	Psoas Muscle	Psoas
12	chr6:35691600-35695000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:35691600-35695200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:35691600-35695400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr6:35691800-35695000	Enhancers	Brain Substantia Nigra	brain
16	chr6:35692000-35695200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:35692200-35695000	Enhancers	Primary T cells from cord blood	blood
18	chr6:35692200-35695000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:35692200-35695800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr6:35692600-35695000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:35692800-35695000	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:35692800-35695000	Enhancers	Brain Cingulate Gyrus	brain
23	chr6:35692800-35695000	Enhancers	Fetal Intestine Large	intestine
24	chr6:35692800-35695200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:35693000-35695000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:35693000-35695000	Enhancers	Fetal Intestine Small	intestine
27	chr6:35693000-35695200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:35693000-35695200	Enhancers	Esophagus	oesophagus
29	chr6:35693000-35695400	Enhancers	Small Intestine	intestine
30	chr6:35693000-35695800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr6:35693000-35697400	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr6:35693000-35697800	Enhancers	Gastric	stomach
33	chr6:35693000-35699200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:35693200-35695000	Enhancers	Fetal Heart	heart
35	chr6:35693200-35695000	Enhancers	Fetal Muscle Trunk	muscle
36	chr6:35693200-35695000	Enhancers	Fetal Muscle Leg	muscle
37	chr6:35693200-35695000	Enhancers	GM12878-XiMat	blood
38	chr6:35693200-35695000	Enhancers	NHLF	lung
39	chr6:35693200-35695200	Enhancers	Fetal Stomach	stomach
40	chr6:35693200-35695400	Enhancers	Aorta	Aorta
41	chr6:35693200-35695800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:35693200-35695800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr6:35693200-35697000	Flanking Active TSS	Fetal Thymus	thymus
44	chr6:35693200-35697200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:35693200-35697200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:35693200-35697200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr6:35693400-35695000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
48	chr6:35693400-35695000	Enhancers	Fetal Lung	lung
49	chr6:35693400-35695000	Enhancers	HUVEC	blood vessel
50	chr6:35693400-35695200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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