Variant report

Variant	rs73949510
Chromosome Location	chr2:86671146-86671147
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86670537..86672265-chr2:86924211..86926595,2	MCF-7	breast:
2	chr2:86669725..86671528-chr2:86682298..86684898,2	MCF-7	breast:
3	chr2:86669498..86671776-chr2:86849448..86851643,2	MCF-7	breast:
4	chr2:86667181..86671352-chr2:86788569..86792016,9	K562	blood:
5	chr2:86667874..86671580-chr2:86848738..86852940,5	K562	blood:
6	chr2:86670380..86672664-chr2:86788557..86791421,2	MCF-7	breast:
7	chr2:86668149..86671762-chr2:86690412..86696565,6	K562	blood:

Variant related genes	Relation type
ENSG00000115561	Chromatin interaction
ENSG00000115548	Chromatin interaction
ENSG00000249884	Chromatin interaction
ENSG00000239305	Chromatin interaction
ENSG00000228363	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17027287	1.00[AMR][1000 genomes]
rs56249372	1.00[AMR][1000 genomes]
rs58376522	1.00[AMR][1000 genomes]
rs58487331	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72928459	1.00[AMR][1000 genomes]
rs73945296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73946220	1.00[AMR][1000 genomes]
rs73949507	1.00[AMR][1000 genomes]
rs73949509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73949511	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73949513	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7557127	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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86667800-86671200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:86668600-86671200	Active TSS	Right Atrium	heart
3	chr2:86669200-86672000	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr2:86669400-86671600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:86669800-86671800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:86669800-86671800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:86669800-86678600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:86669800-86679200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:86670000-86671400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr2:86670000-86671600	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr2:86670000-86671600	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr2:86670000-86671600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr2:86670000-86672800	Enhancers	Small Intestine	intestine
14	chr2:86670000-86678200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:86670000-86684200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:86670200-86671200	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr2:86670200-86671400	Flanking Active TSS	Fetal Brain Female	brain
18	chr2:86670200-86671400	Enhancers	Gastric	stomach
19	chr2:86670200-86671400	Transcr. at gene 5' and 3'	HepG2	liver
20	chr2:86670200-86671600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
21	chr2:86670200-86671600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:86670200-86671600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:86670200-86671800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:86670200-86672800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
25	chr2:86670400-86671200	Genic enhancers	Primary B cells from cord blood	blood
26	chr2:86670400-86671200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:86670400-86671200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:86670400-86671200	Flanking Active TSS	HSMMtube	muscle
29	chr2:86670400-86671200	Genic enhancers	NHEK	skin
30	chr2:86670400-86671400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:86670400-86671400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:86670400-86671400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
33	chr2:86670400-86671400	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
34	chr2:86670400-86671400	Enhancers	Spleen	Spleen
35	chr2:86670400-86671600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:86670400-86671600	Genic enhancers	Fetal Thymus	thymus
37	chr2:86670400-86671600	Enhancers	Ovary	ovary
38	chr2:86670400-86671600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
39	chr2:86670400-86671800	Enhancers	Pancreas	Pancrea
40	chr2:86670400-86676400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:86670400-86693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:86670600-86671200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:86670600-86671200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr2:86670600-86671400	Enhancers	Liver	Liver
45	chr2:86670600-86671400	Genic enhancers	Fetal Stomach	stomach
46	chr2:86670600-86671600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:86670600-86671600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
48	chr2:86670600-86671600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr2:86670600-86671800	Genic enhancers	Fetal Muscle Leg	muscle
50	chr2:86670600-86672000	Genic enhancers	Thymus	Thymus

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