Variant report

Variant	rs73394186
Chromosome Location	chr12:105186320-105186321
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	chr12:105184845..105186362-chr12:105189504..105191210,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1038969	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10778350	1.00[EUR][1000 genomes]
rs11112189	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11834087	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12307301	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12320887	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12321404	1.00[EUR][1000 genomes]
rs12579202	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12579469	0.89[ASN][1000 genomes]
rs12579505	0.87[ASN][1000 genomes]
rs12579945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12580114	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12580128	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12580794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12582312	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1565814	0.91[AMR][1000 genomes]
rs17036358	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17036429	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17036433	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17036489	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17036545	0.89[ASN][1000 genomes]
rs4369494	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4545639	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57144501	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57685442	0.90[ASN][1000 genomes]
rs59079144	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60976244	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61129422	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61262317	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61587191	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7301525	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7302213	1.00[EUR][1000 genomes]
rs73383408	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73383420	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73383435	0.90[ASN][1000 genomes]
rs73383439	0.86[ASN][1000 genomes]
rs73383441	0.90[ASN][1000 genomes]
rs73383467	0.89[ASN][1000 genomes]
rs73383473	0.89[ASN][1000 genomes]
rs73394174	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73394185	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396157	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73396159	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73399912	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73399925	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73399927	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73399929	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73399931	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73399934	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73399944	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73399947	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73399956	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73399960	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73399968	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7971315	1.00[EUR][1000 genomes]
rs7971613	1.00[EUR][1000 genomes]
rs7976092	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899496	chr12:105152391-105199038	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105178000-105186400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:105178800-105186800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:105179600-105186400	Weak transcription	Ovary	ovary
4	chr12:105183000-105186400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:105183000-105186400	Weak transcription	Adipose Nuclei	Adipose
6	chr12:105183000-105186400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:105183000-105186400	Weak transcription	Gastric	stomach
8	chr12:105183000-105186400	Weak transcription	Left Ventricle	heart
9	chr12:105183000-105186800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:105183000-105189800	Weak transcription	Brain Germinal Matrix	brain
11	chr12:105183200-105186400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:105184400-105186400	Weak transcription	Pancreas	Pancrea
13	chr12:105184400-105186400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:105184400-105186800	Weak transcription	Right Ventricle	heart
15	chr12:105184600-105186400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:105184600-105186400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:105184600-105186400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr12:105184600-105186400	Weak transcription	Right Atrium	heart
19	chr12:105184600-105186600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:105184600-105186800	Weak transcription	Spleen	Spleen
21	chr12:105184600-105187400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:105184800-105186400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:105184800-105186400	Weak transcription	K562	blood
24	chr12:105185800-105186800	Enhancers	Colon Smooth Muscle	Colon
25	chr12:105186000-105186400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:105186000-105186600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:105186000-105187200	Enhancers	NHLF	lung
28	chr12:105186000-105187600	Enhancers	Hela-S3	cervix
29	chr12:105186200-105186600	Active TSS	Rectal Smooth Muscle	rectum
30	chr12:105186200-105186600	Active TSS	Stomach Smooth Muscle	stomach
31	chr12:105186200-105186600	Enhancers	Osteobl	bone
32	chr12:105186200-105186800	Enhancers	Fetal Heart	heart
33	chr12:105186200-105186800	Enhancers	Stomach Mucosa	stomach
34	chr12:105186200-105187200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:105186200-105187200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:105186200-105187200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:105186200-105187200	Enhancers	A549	lung
38	chr12:105186200-105187200	Enhancers	HSMM	muscle
39	chr12:105186200-105187200	Enhancers	NH-A	brain
40	chr12:105186200-105187200	Flanking Active TSS	NHDF-Ad	bronchial
41	chr12:105186200-105187400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr12:105186200-105187400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:105186200-105187400	Enhancers	HMEC	breast
44	chr12:105186200-105187400	Enhancers	NHEK	skin
45	chr12:105186200-105187600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr12:105186200-105187600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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