Variant report

Variant	rs73971696
Chromosome Location	chr2:173969611-173969612
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173939636..173941560-chr2:173969375..173971001,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56200856	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57073707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57131128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57152825	1.00[AMR][1000 genomes]
rs60769697	1.00[AMR][1000 genomes]
rs6707106	1.00[AMR][1000 genomes]
rs6751482	1.00[AMR][1000 genomes]
rs73971692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73971693	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73971888	1.00[AMR][1000 genomes]
rs73971891	1.00[AMR][1000 genomes]
rs73974104	1.00[AMR][1000 genomes]
rs73974106	1.00[AMR][1000 genomes]
rs73974108	1.00[AMR][1000 genomes]
rs73974109	1.00[AMR][1000 genomes]
rs73974110	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173942800-173971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:173943000-173971200	Weak transcription	HSMMtube	muscle
3	chr2:173943400-173974200	Weak transcription	Fetal Intestine Large	intestine
4	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:173952000-173973400	Weak transcription	Hela-S3	cervix
6	chr2:173952200-173971400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:173955400-173970200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:173955600-173971800	Weak transcription	Lung	lung
10	chr2:173955600-173972000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:173955600-173984000	Weak transcription	Gastric	stomach
12	chr2:173955800-173977200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:173956600-173971600	Weak transcription	Fetal Thymus	thymus
14	chr2:173957000-173974400	Weak transcription	Fetal Stomach	stomach
15	chr2:173957600-173972000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:173957800-173973400	Weak transcription	Fetal Lung	lung
17	chr2:173957800-173983800	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:173958000-173983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:173958200-173973800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:173958200-173974000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:173959800-173974200	Weak transcription	HepG2	liver
22	chr2:173961400-173973400	Weak transcription	Fetal Intestine Small	intestine
23	chr2:173961800-173970800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:173961800-173974400	Weak transcription	NHLF	lung
25	chr2:173962000-173971000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:173962200-173983800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:173964600-173971200	Weak transcription	HSMM	muscle
28	chr2:173964600-173971600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:173965000-173974000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:173965000-173987400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:173965400-173971400	Weak transcription	HMEC	breast
32	chr2:173965400-173984400	Weak transcription	Aorta	Aorta
33	chr2:173965400-173987200	Weak transcription	Dnd41	blood
34	chr2:173965400-173989200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:173965600-173970200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr2:173965600-173971000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:173965600-173973800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:173965600-173983800	Weak transcription	Adipose Nuclei	Adipose
39	chr2:173965800-173970400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:173966800-173971000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:173966800-173971200	Weak transcription	A549	lung
42	chr2:173966800-173973800	Weak transcription	NHEK	skin
43	chr2:173967000-173972600	Weak transcription	Osteobl	bone
44	chr2:173967200-173970000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:173967200-173971200	Weak transcription	Liver	Liver
46	chr2:173967200-173971400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:173967200-173973200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:173967200-173973200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:173967400-173970200	Enhancers	Fetal Heart	heart
50	chr2:173967600-173971200	Weak transcription	Colon Smooth Muscle	Colon

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