Variant report

Variant	rs7568949
Chromosome Location	chr2:46687501-46687502
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46593545..46595636-chr2:46687242..46688788,2	MCF-7	breast:
2	chr2:46673194..46677108-chr2:46685172..46689084,4	MCF-7	breast:
3	chr2:46616407..46617253-chr2:46687109..46688120,3	MCF-7	breast:
4	chr2:46219810..46222412-chr2:46687121..46689791,4	MCF-7	breast:
5	chr2:46654324..46657409-chr2:46685735..46688601,3	K562	blood:
6	chr2:46636115..46638908-chr2:46687157..46689113,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187600	Chromatin interaction
ENSG00000241791	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17035171	1.00[EUR][1000 genomes]
rs57689608	1.00[EUR][1000 genomes]
rs57855710	1.00[EUR][1000 genomes]
rs58237950	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58816264	1.00[AMR][1000 genomes]
rs59180948	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59376417	1.00[EUR][1000 genomes]
rs60076970	1.00[AMR][1000 genomes]
rs60271025	1.00[EUR][1000 genomes]
rs60358606	0.89[AMR][1000 genomes]
rs61029748	1.00[AMR][1000 genomes]
rs61093993	1.00[EUR][1000 genomes]
rs61307189	1.00[AMR][1000 genomes]
rs61436327	1.00[EUR][1000 genomes]
rs61498129	1.00[EUR][1000 genomes]
rs61515550	0.89[AMR][1000 genomes]
rs61693092	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61995899	1.00[EUR][1000 genomes]
rs6741442	1.00[EUR][1000 genomes]
rs6741678	1.00[EUR][1000 genomes]
rs72871953	1.00[AMR][1000 genomes]
rs72871958	0.89[AMR][1000 genomes]
rs72871989	1.00[AMR][1000 genomes]
rs72873709	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72873728	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72873778	1.00[EUR][1000 genomes]
rs72873781	1.00[EUR][1000 genomes]
rs72873783	1.00[EUR][1000 genomes]
rs72873787	1.00[EUR][1000 genomes]
rs72873789	1.00[EUR][1000 genomes]
rs72873791	1.00[EUR][1000 genomes]
rs72875604	1.00[EUR][1000 genomes]
rs72875615	1.00[EUR][1000 genomes]
rs72875623	1.00[EUR][1000 genomes]
rs7557688	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7572109	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7591555	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv581745	chr2:46660445-46693963	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv9702	chr2:46668106-46745740	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv817828	chr2:46670146-46739157	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking 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	35 gene(s)	inside rSNPs	diseases
14	nsv519216	chr2:46683683-46723219	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46667000-46688400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:46684000-46688000	Weak transcription	K562	blood
3	chr2:46684800-46687600	Enhancers	HepG2	liver
4	chr2:46685800-46688400	Enhancers	Stomach Smooth Muscle	stomach
5	chr2:46685800-46688600	Enhancers	Fetal Stomach	stomach
6	chr2:46686000-46687800	Enhancers	Fetal Kidney	kidney
7	chr2:46686000-46688200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:46686000-46688600	Enhancers	Fetal Lung	lung
9	chr2:46686000-46689000	Enhancers	Adipose Nuclei	Adipose
10	chr2:46686200-46688600	Enhancers	Fetal Muscle Leg	muscle
11	chr2:46686200-46688800	Enhancers	Fetal Muscle Trunk	muscle
12	chr2:46686400-46688600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:46686400-46688600	Enhancers	Colon Smooth Muscle	Colon
14	chr2:46686400-46689000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:46686400-46689000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:46686400-46689000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr2:46686400-46689200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:46686400-46689200	Enhancers	Right Atrium	heart
19	chr2:46686400-46689400	Enhancers	Lung	lung
20	chr2:46686400-46704400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:46686600-46687800	Weak transcription	Colonic Mucosa	Colon
22	chr2:46686600-46688000	Enhancers	Esophagus	oesophagus
23	chr2:46686600-46688400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:46686600-46688600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:46686600-46688600	Enhancers	Fetal Intestine Large	intestine
26	chr2:46686600-46689000	Enhancers	Duodenum Mucosa	Duodenum
27	chr2:46686600-46689000	Enhancers	NHLF	lung
28	chr2:46686800-46688600	Enhancers	Fetal Heart	heart
29	chr2:46686800-46691600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:46687000-46689000	Enhancers	Pancreas	Pancrea
31	chr2:46687000-46689200	Enhancers	Hela-S3	cervix
32	chr2:46687200-46687800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr2:46687200-46688000	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr2:46687200-46688000	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr2:46687200-46688600	Enhancers	Left Ventricle	heart
36	chr2:46687200-46688600	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:46687200-46688600	Enhancers	Right Ventricle	heart
38	chr2:46687200-46688600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr2:46687200-46689000	Enhancers	Stomach Mucosa	stomach
40	chr2:46687200-46689200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:46687200-46690600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:46687400-46687600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:46687400-46687800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:46687400-46688200	Enhancers	Fetal Brain Male	brain
45	chr2:46687400-46688600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:46687400-46688600	Enhancers	Brain Angular Gyrus	brain
47	chr2:46687400-46688600	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr2:46687400-46688600	Enhancers	Brain Germinal Matrix	brain
49	chr2:46687400-46688600	Enhancers	Fetal Brain Female	brain
50	chr2:46687400-46688600	Enhancers	Gastric	stomach

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