Variant report

Variant	rs7310292
Chromosome Location	chr12:56420990-56420991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56387127..56392729-chr12:56419203..56425417,17	MCF-7	breast:
2	chr12:56400024..56405744-chr12:56418580..56425265,13	MCF-7	breast:
3	chr12:56387922..56391678-chr12:56420770..56424828,6	MCF-7	breast:
4	chr12:56419317..56422414-chr12:56434888..56438037,4	K562	blood:
5	chr12:56417053..56422414-chr12:56432550..56437155,7	K562	blood:
6	chr12:56350151..56351741-chr12:56420142..56422270,2	MCF-7	breast:
7	chr12:56418842..56421090-chr12:56423782..56426240,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139531	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000123411	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000257449	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1066130	1.00[EUR][1000 genomes]
rs1068188	1.00[EUR][1000 genomes]
rs1068189	1.00[EUR][1000 genomes]
rs1088050	1.00[EUR][1000 genomes]
rs1091527	1.00[EUR][1000 genomes]
rs11833164	1.00[EUR][1000 genomes]
rs11834873	1.00[EUR][1000 genomes]
rs11835018	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11835310	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11837075	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11837183	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1626158	1.00[EUR][1000 genomes]
rs1681071	1.00[EUR][1000 genomes]
rs1681079	1.00[EUR][1000 genomes]
rs1681080	1.00[EUR][1000 genomes]
rs1681088	1.00[EUR][1000 genomes]
rs1689508	1.00[EUR][1000 genomes]
rs1689509	1.00[EUR][1000 genomes]
rs1689517	1.00[EUR][1000 genomes]
rs1689518	1.00[EUR][1000 genomes]
rs1701701	1.00[EUR][1000 genomes]
rs1701702	1.00[EUR][1000 genomes]
rs1702872	1.00[EUR][1000 genomes]
rs17118461	1.00[EUR][1000 genomes]
rs2035948	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2625137	1.00[EUR][1000 genomes]
rs2625146	1.00[EUR][1000 genomes]
rs2629445	1.00[EUR][1000 genomes]
rs2640566	1.00[EUR][1000 genomes]
rs2640568	1.00[EUR][1000 genomes]
rs2658478	1.00[EUR][1000 genomes]
rs2661728	1.00[EUR][1000 genomes]
rs2661729	1.00[EUR][1000 genomes]
rs2934152	1.00[EUR][1000 genomes]
rs34323718	1.00[EUR][1000 genomes]
rs4417324	1.00[EUR][1000 genomes]
rs56696262	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57237559	1.00[EUR][1000 genomes]
rs57785224	1.00[EUR][1000 genomes]
rs57990974	1.00[EUR][1000 genomes]
rs58349500	1.00[EUR][1000 genomes]
rs59794023	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60740107	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61733171	1.00[EUR][1000 genomes]
rs705697	1.00[EUR][1000 genomes]
rs705710	1.00[EUR][1000 genomes]
rs705712	1.00[EUR][1000 genomes]
rs705713	1.00[EUR][1000 genomes]
rs705714	1.00[EUR][1000 genomes]
rs705716	1.00[EUR][1000 genomes]
rs7298109	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7300292	1.00[EUR][1000 genomes]
rs7304690	1.00[EUR][1000 genomes]
rs7305481	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7309327	0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338377	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338385	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772459	1.00[EUR][1000 genomes]
rs772463	1.00[EUR][1000 genomes]
rs772464	1.00[EUR][1000 genomes]
rs772470	1.00[EUR][1000 genomes]
rs772474	1.00[EUR][1000 genomes]
rs772697	1.00[EUR][1000 genomes]
rs772698	1.00[EUR][1000 genomes]
rs772699	1.00[EUR][1000 genomes]
rs772701	1.00[EUR][1000 genomes]
rs772705	1.00[EUR][1000 genomes]
rs7954155	1.00[EUR][1000 genomes]
rs7957187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7958958	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962107	1.00[EUR][1000 genomes]
rs7970035	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7975037	1.00[EUR][1000 genomes]
rs7975405	1.00[EUR][1000 genomes]
rs7980782	1.00[EUR][1000 genomes]
rs9738143	0.91[AFR][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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56402200-56434800	Weak transcription	Psoas Muscle	Psoas
2	chr12:56402400-56422400	Weak transcription	Osteobl	bone
3	chr12:56402400-56423000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:56406000-56422800	Weak transcription	HSMM	muscle
5	chr12:56409400-56435000	Weak transcription	Stomach Mucosa	stomach
6	chr12:56409800-56422600	Weak transcription	Liver	Liver
7	chr12:56415400-56422400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:56415600-56426200	Weak transcription	Aorta	Aorta
9	chr12:56415800-56422400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:56415800-56422400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:56416000-56421200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:56416000-56421200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:56416000-56422800	Weak transcription	NH-A	brain
14	chr12:56416000-56426000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:56416000-56434800	Weak transcription	Primary B cells from cord blood	blood
16	chr12:56416000-56434800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:56416000-56435000	Weak transcription	Right Atrium	heart
18	chr12:56416200-56421000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:56416200-56421600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:56416200-56421600	Weak transcription	Spleen	Spleen
21	chr12:56416200-56422600	Weak transcription	NHDF-Ad	bronchial
22	chr12:56416200-56425800	Weak transcription	Small Intestine	intestine
23	chr12:56416200-56426000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:56416200-56426000	Weak transcription	Colonic Mucosa	Colon
25	chr12:56416200-56434800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr12:56416400-56421400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:56416400-56421400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:56416400-56421600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:56416400-56431000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:56416600-56422800	Weak transcription	HepG2	liver
31	chr12:56416600-56431000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:56417400-56430800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:56417600-56422200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:56417800-56423200	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr12:56417800-56430600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:56418000-56423600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:56418000-56425400	Weak transcription	Fetal Brain Male	brain
38	chr12:56418000-56431000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:56418200-56422000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:56418200-56423400	Strong transcription	Brain Anterior Caudate	brain
41	chr12:56418200-56423800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:56418200-56423800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:56418200-56427200	Strong transcription	K562	blood
44	chr12:56418200-56432600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:56418400-56421400	Strong transcription	Placenta	Placenta
46	chr12:56418400-56421600	Strong transcription	HSMMtube	muscle
47	chr12:56418400-56421800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:56418400-56422600	Strong transcription	Fetal Intestine Large	intestine
49	chr12:56418400-56422600	Strong transcription	Fetal Thymus	thymus
50	chr12:56418400-56422800	Strong transcription	Fetal Intestine Small	intestine

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