Variant report

Variant	rs73995911
Chromosome Location	chr2:234257811-234257812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234248205..234248729-chr2:234257674..234258176,2	MCF-7	breast:
2	chr2:234247812..234248755-chr2:234257486..234258176,3	MCF-7	breast:
3	chr2:234255807..234258253-chr2:234261320..234263742,3	MCF-7	breast:
4	chr2:234243954..234247958-chr2:234256896..234259564,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000077044	Chromatin interaction
ENSG00000243637	Chromatin interaction
ENSG00000130561	Chromatin interaction
ENSG00000259793	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs4588184	1.00[AMR][1000 genomes]
rs56273947	0.92[AFR][1000 genomes]
rs56274731	1.00[AMR][1000 genomes]
rs56306918	1.00[AMR][1000 genomes]
rs56317380	1.00[AMR][1000 genomes]
rs57285092	1.00[AMR][1000 genomes]
rs58330864	1.00[AMR][1000 genomes]
rs58489211	1.00[AMR][1000 genomes]
rs58864422	1.00[AMR][1000 genomes]
rs59543173	1.00[AMR][1000 genomes]
rs60188595	0.87[AFR][1000 genomes]
rs61376069	1.00[AMR][1000 genomes]
rs6707862	0.87[AFR][1000 genomes]
rs6726032	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6734355	1.00[AMR][1000 genomes]
rs73995909	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995918	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995919	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995920	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995921	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995922	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995923	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995944	1.00[AMR][1000 genomes]
rs73995946	1.00[AMR][1000 genomes]
rs73995947	1.00[AMR][1000 genomes]
rs73995948	1.00[AMR][1000 genomes]
rs73995949	1.00[AMR][1000 genomes]
rs73995950	1.00[AMR][1000 genomes]
rs73995970	1.00[AMR][1000 genomes]
rs73995972	1.00[AMR][1000 genomes]
rs73995973	1.00[AMR][1000 genomes]
rs73995974	1.00[AMR][1000 genomes]
rs73995980	1.00[AMR][1000 genomes]
rs73996001	1.00[AMR][1000 genomes]
rs73996105	1.00[AMR][1000 genomes]
rs73996107	1.00[AMR][1000 genomes]
rs73996118	1.00[AMR][1000 genomes]
rs73996119	1.00[AMR][1000 genomes]
rs73997606	1.00[AMR][1000 genomes]
rs73997607	1.00[AMR][1000 genomes]
rs73997608	1.00[AMR][1000 genomes]
rs73997611	1.00[AMR][1000 genomes]
rs73997612	1.00[AMR][1000 genomes]
rs73997630	1.00[AMR][1000 genomes]
rs73997631	1.00[AMR][1000 genomes]
rs73997633	1.00[AMR][1000 genomes]
rs73997637	1.00[AMR][1000 genomes]
rs73997638	1.00[AMR][1000 genomes]
rs73998355	0.87[AFR][1000 genomes]
rs745154	1.00[AMR][1000 genomes]
rs7580191	1.00[AMR][1000 genomes]
rs7584192	1.00[AMR][1000 genomes]
rs7593807	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234255000-234260000	Enhancers	Liver	Liver
2	chr2:234255600-234258600	Enhancers	Brain Substantia Nigra	brain
3	chr2:234255800-234258600	Flanking Active TSS	HepG2	liver
4	chr2:234255800-234262400	Weak transcription	Right Atrium	heart
5	chr2:234256200-234260800	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:234256400-234260400	Enhancers	Fetal Intestine Small	intestine
7	chr2:234256400-234262400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr2:234256600-234259800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:234256600-234261400	Enhancers	Primary B cells from cord blood	blood
10	chr2:234256800-234258000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:234256800-234258400	Enhancers	Gastric	stomach
12	chr2:234256800-234258800	Enhancers	Brain Angular Gyrus	brain
13	chr2:234256800-234262400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:234257000-234258800	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:234257000-234259200	Enhancers	Fetal Muscle Leg	muscle
16	chr2:234257000-234262200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:234257200-234259400	Enhancers	Fetal Thymus	thymus
18	chr2:234257200-234260000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:234257200-234260400	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:234257400-234258000	Enhancers	GM12878-XiMat	blood
21	chr2:234257400-234258200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr2:234257400-234258400	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr2:234257400-234258400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr2:234257400-234258600	Enhancers	Placenta	Placenta
25	chr2:234257400-234258600	Enhancers	Spleen	Spleen
26	chr2:234257400-234258800	Weak transcription	Small Intestine	intestine
27	chr2:234257400-234260400	Enhancers	Fetal Intestine Large	intestine
28	chr2:234257600-234258000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:234257600-234258000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:234257600-234258000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr2:234257600-234258000	Flanking Active TSS	Hela-S3	cervix
32	chr2:234257600-234258200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:234257600-234258200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:234257600-234258200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:234257600-234258200	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr2:234257600-234258200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr2:234257600-234258200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr2:234257600-234258200	Enhancers	Lung	lung
39	chr2:234257600-234258200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr2:234257600-234258200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
41	chr2:234257600-234258400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:234257600-234258400	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr2:234257600-234258400	Enhancers	Thymus	Thymus
44	chr2:234257600-234258400	Enhancers	HSMMtube	muscle
45	chr2:234257600-234258600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr2:234257600-234259000	Enhancers	A549	lung
47	chr2:234257600-234260000	Enhancers	Stomach Mucosa	stomach
48	chr2:234257600-234260400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:234257800-234258000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:234257800-234258000	Flanking Active TSS	Adipose Nuclei	Adipose

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