Variant report

Variant	rs17388573
Chromosome Location	chr12:25389182-25389183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:25389042..25391439-chr12:25537346..25540580,3	K562	blood:
2	chr12:25389042..25390655-chr12:25537346..25539555,2	K562	blood:
3	chr12:25387227..25389943-chr12:25538363..25541492,5	MCF-7	breast:
4	chr12:25387876..25389586-chr12:25395973..25398657,2	MCF-7	breast:
5	chr12:25382080..25386117-chr12:25388802..25392255,4	MCF-7	breast:
6	chr12:25387866..25389921-chr12:25394570..25396396,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10743548	0.86[EUR][1000 genomes]
rs10771183	0.86[EUR][1000 genomes]
rs10842515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10842516	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10842517	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11047878	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11047879	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11047885	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11047903	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11047904	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11047912	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11047914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047917	0.90[ASN][1000 genomes]
rs1137282	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11836509	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17388587	1.00[ASN][1000 genomes]
rs17389103	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3924650	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4368021	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4606562	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61761150	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7309670	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311692	0.93[ASN][1000 genomes]
rs7315339	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7960917	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7964623	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7965763	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7968023	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7973450	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7973623	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7977616	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7980769	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7980834	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv898923	chr12:25357680-25397282	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv898924	chr12:25357680-25398972	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv557798	chr12:25359841-25397282	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv898925	chr12:25367669-25398972	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv898926	chr12:25367669-25408047	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv470279	chr12:25384658-25399121	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25348600-25402200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:25348600-25403200	Weak transcription	Spleen	Spleen
3	chr12:25349000-25402400	Weak transcription	Right Ventricle	heart
4	chr12:25349400-25393800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:25349400-25396000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:25349400-25401800	Weak transcription	Fetal Brain Male	brain
7	chr12:25349400-25402600	Weak transcription	Brain Germinal Matrix	brain
8	chr12:25349600-25394600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:25349600-25402600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:25349600-25402600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:25349600-25402600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:25349600-25402600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:25349800-25390200	Weak transcription	K562	blood
14	chr12:25350000-25402800	Weak transcription	Ovary	ovary
15	chr12:25354000-25402400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:25354400-25402200	Weak transcription	Pancreas	Pancrea
17	chr12:25355800-25396000	Weak transcription	Small Intestine	intestine
18	chr12:25356600-25402600	Weak transcription	Fetal Heart	heart
19	chr12:25360800-25389200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:25360800-25402200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:25361000-25395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:25361000-25402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:25361000-25402600	Weak transcription	Fetal Brain Female	brain
24	chr12:25361200-25389200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:25362000-25402400	Weak transcription	HepG2	liver
26	chr12:25365200-25393800	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:25372400-25402800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:25373000-25393800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:25374400-25391600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:25374800-25402600	Weak transcription	Placenta	Placenta
31	chr12:25375000-25402800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:25377800-25402200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:25377800-25402200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:25378800-25401800	Weak transcription	Adipose Nuclei	Adipose
35	chr12:25380400-25402200	Weak transcription	Fetal Lung	lung
36	chr12:25380600-25393800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:25380800-25389400	Weak transcription	Fetal Intestine Large	intestine
38	chr12:25381000-25395400	Weak transcription	HUVEC	blood vessel
39	chr12:25381200-25402400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:25382000-25402600	Weak transcription	Colonic Mucosa	Colon
41	chr12:25383000-25399000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:25384200-25392800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:25384600-25389200	Weak transcription	NHEK	skin
44	chr12:25385200-25393600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:25385200-25402600	Weak transcription	Aorta	Aorta
46	chr12:25385400-25395400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:25386200-25392600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:25386200-25402800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:25386400-25393400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:25386400-25402800	Weak transcription	Gastric	stomach

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