Variant report

Variant	rs3934659
Chromosome Location	chr6:13013289-13013290
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13011649..13013861-chr6:13014295..13015902,2	K562	blood:
2	chr6:13004185..13006578-chr6:13012805..13015375,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13215349	0.82[AMR][1000 genomes]
rs13218974	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34054869	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34267578	0.82[AMR][1000 genomes]
rs34476983	0.85[AMR][1000 genomes]
rs35776201	0.82[AMR][1000 genomes]
rs4132044	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4361612	0.80[AMR][1000 genomes]
rs4373361	0.80[AMR][1000 genomes]
rs4580848	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4715064	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs67193572	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72820860	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13009000-13013400	Weak transcription	Aorta	Aorta
2	chr6:13010200-13013400	Weak transcription	Pancreas	Pancrea
3	chr6:13011000-13013400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:13011200-13013400	Enhancers	Fetal Heart	heart
5	chr6:13012000-13013400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr6:13012000-13013400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:13012200-13013400	Enhancers	Left Ventricle	heart
8	chr6:13012200-13013400	Enhancers	Right Ventricle	heart
9	chr6:13012400-13013400	Bivalent Enhancer	Placenta	Placenta
10	chr6:13012400-13013400	Weak transcription	Right Atrium	heart
11	chr6:13012600-13013400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
12	chr6:13012600-13013400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:13012600-13013400	Bivalent Enhancer	Fetal Thymus	thymus
14	chr6:13012600-13013600	Bivalent Enhancer	Fetal Lung	lung
15	chr6:13012600-13014000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:13012800-13013400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:13012800-13013400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
18	chr6:13012800-13013600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:13012800-13013600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
20	chr6:13012800-13013600	Weak transcription	Gastric	stomach
21	chr6:13012800-13013600	Weak transcription	Lung	lung
22	chr6:13013000-13013400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
23	chr6:13013000-13013400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr6:13013000-13013400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:13013000-13013400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:13013000-13013400	Bivalent Enhancer	Colonic Mucosa	Colon
27	chr6:13013000-13013400	Enhancers	Duodenum Mucosa	Duodenum
28	chr6:13013000-13013400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr6:13013000-13013400	Bivalent Enhancer	Fetal Intestine Small	intestine
30	chr6:13013000-13013400	Bivalent Enhancer	Fetal Stomach	stomach
31	chr6:13013000-13013400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
32	chr6:13013000-13013600	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr6:13013000-13013600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:13013000-13013600	Bivalent Enhancer	Liver	Liver
35	chr6:13013000-13013600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr6:13013000-13013600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr6:13013000-13013600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
38	chr6:13013000-13014800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr6:13013000-13015400	Active TSS	Brain Angular Gyrus	brain
40	chr6:13013000-13015600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr6:13013200-13013400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:13013200-13013400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:13013200-13013400	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr6:13013200-13013400	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr6:13013200-13013400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:13013200-13013400	Bivalent Enhancer	Thymus	Thymus
47	chr6:13013200-13013400	Bivalent Enhancer	HSMM	muscle
48	chr6:13013200-13013400	Enhancers	HSMMtube	muscle
49	chr6:13013200-13013400	Enhancers	HUVEC	blood vessel
50	chr6:13013200-13013400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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