Variant report

Variant	rs6708294
Chromosome Location	chr2:233919085-233919086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233846888..233847417-chr2:233918381..233919115,2	MCF-7	breast:
2	chr2:233914078..233917204-chr2:233917220..233919359,3	MCF-7	breast:
3	chr2:233717958..233718532-chr2:233918679..233919191,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11901943	1.00[EUR][1000 genomes]
rs57218566	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58480585	1.00[EUR][1000 genomes]
rs61351720	1.00[EUR][1000 genomes]
rs6437087	1.00[EUR][1000 genomes]
rs6712466	1.00[EUR][1000 genomes]
rs73094939	1.00[EUR][1000 genomes]
rs73094940	0.89[AFR][1000 genomes]
rs73094946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094949	1.00[EUR][1000 genomes]
rs73094951	1.00[EUR][1000 genomes]
rs73094978	1.00[EUR][1000 genomes]
rs73094980	1.00[EUR][1000 genomes]
rs73094987	1.00[EUR][1000 genomes]
rs73101521	1.00[EUR][1000 genomes]
rs73101525	1.00[EUR][1000 genomes]
rs73107126	1.00[EUR][1000 genomes]
rs7569026	1.00[AMR][1000 genomes]
rs9917365	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233914200-233919200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:233914400-233926600	Weak transcription	HSMMtube	muscle
3	chr2:233914600-233919200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:233916600-233919200	Weak transcription	Osteobl	bone
5	chr2:233916600-233924000	Weak transcription	Esophagus	oesophagus
6	chr2:233916600-233924000	Weak transcription	Right Atrium	heart
7	chr2:233916600-233924600	Weak transcription	Pancreas	Pancrea
8	chr2:233916800-233919200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:233917000-233925800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:233917400-233926000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:233918200-233919200	Enhancers	Spleen	Spleen
12	chr2:233918400-233919200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr2:233918400-233919400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr2:233918400-233919600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:233918600-233919200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
16	chr2:233918600-233919200	Enhancers	Primary B cells from cord blood	blood
17	chr2:233918600-233919200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr2:233918600-233919200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr2:233918600-233919200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:233918600-233919200	Enhancers	Adipose Nuclei	Adipose
21	chr2:233918600-233919200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:233918600-233919200	Enhancers	Lung	lung
23	chr2:233918600-233919200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr2:233918600-233919200	Active TSS	A549	lung
25	chr2:233918600-233919200	Enhancers	GM12878-XiMat	blood
26	chr2:233918600-233919200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:233918600-233919400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:233918600-233919400	Enhancers	Primary B cells from peripheral blood	blood
29	chr2:233918600-233919400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:233918600-233919400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:233918600-233919400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr2:233918600-233919400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr2:233918600-233919400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr2:233918600-233919400	Enhancers	Brain Hippocampus Middle	brain
35	chr2:233918600-233919400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr2:233918600-233919400	Enhancers	Right Ventricle	heart
37	chr2:233918600-233919600	Enhancers	Brain Substantia Nigra	brain
38	chr2:233918600-233919600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr2:233918600-233919600	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr2:233918600-233919800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:233918600-233920000	Enhancers	Placenta	Placenta
42	chr2:233918600-233920200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr2:233918800-233919200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr2:233918800-233919200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:233918800-233919200	Bivalent Enhancer	Stomach Mucosa	stomach
46	chr2:233918800-233919200	Flanking Active TSS	Hela-S3	cervix
47	chr2:233918800-233919200	Enhancers	HMEC	breast
48	chr2:233918800-233919400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:233918800-233919400	Weak transcription	K562	blood
50	chr2:233919000-233919200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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