Variant report

Variant	rs73979189
Chromosome Location	chr2:187348195-187348196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr2:187348052-187348232	HepG2	liver:	n/a	chr2:187348094-187348109 chr2:187348099-187348110 chr2:187348099-187348110 chr2:187348097-187348111 chr2:187348098-187348109

No.	Distal block	Cell Line	Cell type
1	chr2:187331928..187334444-chr2:187348052..187350692,2	MCF-7	breast:
2	chr2:187347068..187348940-chr2:187349193..187350808,2	MCF-7	breast:
3	chr2:187347420..187348961-chr2:187351951..187353598,2	MCF-7	breast:

Variant related genes	Relation type
ZC3H15	TF binding region
ENSG00000065548	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10177972	1.00[AMR][1000 genomes]
rs10188241	1.00[AMR][1000 genomes]
rs12463482	1.00[AMR][1000 genomes]
rs1349155	1.00[AMR][1000 genomes]
rs1349156	1.00[AMR][1000 genomes]
rs1375320	1.00[AMR][1000 genomes]
rs1442432	1.00[AMR][1000 genomes]
rs1448853	1.00[AMR][1000 genomes]
rs1448864	1.00[AMR][1000 genomes]
rs1451879	1.00[AMR][1000 genomes]
rs1823298	1.00[AMR][1000 genomes]
rs1992931	1.00[AMR][1000 genomes]
rs2084487	1.00[AMR][1000 genomes]
rs4667096	1.00[AMR][1000 genomes]
rs59395554	1.00[AMR][1000 genomes]
rs60816826	1.00[AMR][1000 genomes]
rs61318824	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62196179	1.00[AMR][1000 genomes]
rs6434178	1.00[AMR][1000 genomes]
rs6723903	1.00[AMR][1000 genomes]
rs6727428	1.00[AMR][1000 genomes]
rs6740754	1.00[AMR][1000 genomes]
rs6741234	1.00[AMR][1000 genomes]
rs6759051	1.00[AMR][1000 genomes]
rs73979110	1.00[AMR][1000 genomes]
rs73979115	1.00[AMR][1000 genomes]
rs73979116	1.00[AMR][1000 genomes]
rs73979131	1.00[AMR][1000 genomes]
rs73979138	1.00[AMR][1000 genomes]
rs73979143	1.00[AMR][1000 genomes]
rs73979161	1.00[AMR][1000 genomes]
rs73979174	1.00[AMR][1000 genomes]
rs7558856	1.00[AMR][1000 genomes]
rs967425	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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187328000-187350400	Weak transcription	Pancreas	Pancrea
2	chr2:187339800-187348400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:187339800-187349800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:187346200-187348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:187346400-187348600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:187346400-187348600	Weak transcription	HMEC	breast
7	chr2:187346400-187349200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:187346600-187348200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:187346600-187350000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:187347000-187348400	Enhancers	HepG2	liver
11	chr2:187347400-187348200	Enhancers	K562	blood
12	chr2:187347400-187348200	Weak transcription	NHEK	skin
13	chr2:187347400-187348400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:187347600-187348200	Enhancers	Fetal Intestine Small	intestine
15	chr2:187347600-187348200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr2:187347800-187348200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:187348000-187348200	Enhancers	Duodenum Mucosa	Duodenum
18	chr2:187348000-187348200	Enhancers	Fetal Kidney	kidney
19	chr2:187348000-187348400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:187348000-187348600	Flanking Active TSS	Fetal Intestine Large	intestine
21	chr2:187348000-187349000	Flanking Active TSS	GM12878-XiMat	blood
22	chr2:187348000-187349400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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