Variant report

Variant	rs73947251
Chromosome Location	chr2:86971347-86971348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86850257..86852408-chr2:86970682..86973822,3	MCF-7	breast:
2	chr2:86970428..86972701-chr2:86973505..86975478,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153561	Chromatin interaction
ENSG00000239305	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57238626	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59073056	1.00[EUR][1000 genomes]
rs59551477	1.00[EUR][1000 genomes]
rs73947253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv10063	chr2:86940988-87084360	Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002420	chr2:86948835-87172715	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv874472	chr2:86961252-87071474	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1008817	chr2:86970406-87172715	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv961426	chr2:86970416-86974654	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86948800-86972600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:86949000-86979600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:86962200-86975400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:86962200-86977000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:86963600-86972400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:86965200-86978800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:86966800-86977200	Weak transcription	Osteobl	bone
8	chr2:86967600-86971400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:86968600-86972600	Weak transcription	Primary T cells from cord blood	blood
10	chr2:86968600-86974800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:86968600-86993000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:86968600-86997600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:86968800-86971400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:86968800-86975000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:86968800-86977000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:86968800-86977000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:86968800-86978600	Weak transcription	Placenta	Placenta
18	chr2:86968800-86980400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:86969000-86974400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:86969000-86974600	Weak transcription	NHEK	skin
21	chr2:86969200-86971400	Weak transcription	Pancreas	Pancrea
22	chr2:86969200-86975000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:86969200-86977400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:86969200-86986400	Strong transcription	Fetal Thymus	thymus
25	chr2:86969200-86997800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:86969400-86971800	Weak transcription	Left Ventricle	heart
27	chr2:86969400-86979000	Weak transcription	Ovary	ovary
28	chr2:86969400-86984400	Weak transcription	Fetal Heart	heart
29	chr2:86969400-86997800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:86969600-86972400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:86969600-86972800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:86969600-86973800	Weak transcription	Stomach Mucosa	stomach
33	chr2:86969600-86974000	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:86969600-86974200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:86969600-86974600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:86969600-86977200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:86969600-86995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:86969600-86995400	Weak transcription	Esophagus	oesophagus
39	chr2:86969800-86971800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:86969800-86973800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:86969800-86975000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:86969800-86975000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:86969800-86977200	Weak transcription	Fetal Kidney	kidney
44	chr2:86969800-86978600	Weak transcription	HSMM	muscle
45	chr2:86970000-86971600	Strong transcription	A549	lung
46	chr2:86970000-86972000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:86970000-86972000	Strong transcription	Fetal Stomach	stomach
48	chr2:86970000-86972000	Strong transcription	Thymus	Thymus
49	chr2:86970000-86972200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr2:86970000-86973600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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