Variant report

Variant	rs4768967
Chromosome Location	chr12:51506328-51506329
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51474772..51479608-chr12:51503474..51507126,4	K562	blood:
2	chr12:51506045..51508271-chr12:51509266..51511241,2	MCF-7	breast:
3	chr12:51475747..51477340-chr12:51505218..51507269,2	K562	blood:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs1005559	0.85[EUR][1000 genomes]
rs1048230	0.80[CEU][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs10506298	0.82[EUR][1000 genomes]
rs10506299	0.82[EUR][1000 genomes]
rs1056897	0.94[GIH][hapmap];0.83[TSI][hapmap]
rs10747604	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10783412	0.80[YRI][hapmap]
rs11169633	0.80[EUR][1000 genomes]
rs11169636	0.80[EUR][1000 genomes]
rs11169637	0.80[EUR][1000 genomes]
rs11169641	0.80[EUR][1000 genomes]
rs11169642	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs11169644	0.80[EUR][1000 genomes]
rs11169647	0.80[EUR][1000 genomes]
rs11169648	0.80[EUR][1000 genomes]
rs11169649	0.80[EUR][1000 genomes]
rs11169652	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs11169654	0.80[CEU][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs11169655	0.82[EUR][1000 genomes]
rs11169661	0.82[EUR][1000 genomes]
rs11169667	0.82[EUR][1000 genomes]
rs11169669	0.82[EUR][1000 genomes]
rs11169670	0.82[EUR][1000 genomes]
rs11169671	0.82[EUR][1000 genomes]
rs11169672	0.81[EUR][1000 genomes]
rs11169682	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs11169712	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169752	0.84[GIH][hapmap];0.80[TSI][hapmap]
rs11519977	0.80[EUR][1000 genomes]
rs11738	0.84[GIH][hapmap]
rs11831810	0.91[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11831946	0.92[CEU][hapmap];0.82[CHB][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11833022	0.93[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11834746	0.93[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12366476	0.80[EUR][1000 genomes]
rs12366756	0.82[EUR][1000 genomes]
rs12369639	0.82[CEU][hapmap]
rs12370820	0.96[EUR][1000 genomes]
rs12371463	0.83[EUR][1000 genomes]
rs12372173	0.85[EUR][1000 genomes]
rs12809563	0.80[EUR][1000 genomes]
rs12809790	0.81[ASN][1000 genomes]
rs12810174	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12810455	0.87[EUR][1000 genomes]
rs12810596	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12810659	0.82[EUR][1000 genomes]
rs12810700	0.93[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12810990	0.81[ASN][1000 genomes]
rs12811508	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12811658	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12811684	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12812650	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12813309	0.94[EUR][1000 genomes]
rs12813368	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12813728	0.81[EUR][1000 genomes]
rs12814498	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12817386	0.82[EUR][1000 genomes]
rs12818033	0.80[EUR][1000 genomes]
rs12819225	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12819517	0.93[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12820074	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12820966	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12821444	0.80[EUR][1000 genomes]
rs12822509	0.97[EUR][1000 genomes]
rs12823402	0.85[EUR][1000 genomes]
rs12824225	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12824958	0.80[CEU][hapmap];0.91[GIH][hapmap];0.90[TSI][hapmap]
rs12826153	0.93[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12827861	0.82[EUR][1000 genomes]
rs12828349	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12828536	0.85[EUR][1000 genomes]
rs12829630	0.87[EUR][1000 genomes]
rs12830048	0.80[EUR][1000 genomes]
rs12830073	0.85[EUR][1000 genomes]
rs12831269	0.82[EUR][1000 genomes]
rs12833565	0.87[EUR][1000 genomes]
rs150909	0.81[YRI][hapmap]
rs15897	0.82[EUR][1000 genomes]
rs161044	0.81[YRI][hapmap]
rs161045	0.82[YRI][hapmap]
rs161047	0.81[YRI][hapmap]
rs17125137	0.80[CEU][hapmap];0.91[GIH][hapmap];0.97[TSI][hapmap];0.80[EUR][1000 genomes]
rs17296192	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs224566	0.81[YRI][hapmap]
rs224569	0.81[YRI][hapmap]
rs224573	0.81[YRI][hapmap]
rs224574	0.81[YRI][hapmap]
rs2285228	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs2285230	0.80[CEU][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs2301529	0.80[CEU][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs2630362	0.81[YRI][hapmap]
rs34057357	0.83[EUR][1000 genomes]
rs34481246	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34735738	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35037088	0.80[EUR][1000 genomes]
rs390424	0.85[YRI][hapmap]
rs394384	0.82[YRI][hapmap]
rs4768959	0.81[YRI][hapmap]
rs4768964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6580780	0.83[YRI][hapmap]
rs6580784	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6580792	0.87[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6580793	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs67133203	0.84[EUR][1000 genomes]
rs67259551	0.82[EUR][1000 genomes]
rs67260912	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67293043	0.87[EUR][1000 genomes]
rs7135059	0.96[EUR][1000 genomes]
rs71445772	0.80[EUR][1000 genomes]
rs7305638	0.80[EUR][1000 genomes]
rs7306293	0.80[EUR][1000 genomes]
rs7954140	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7959075	0.80[EUR][1000 genomes]
rs7959082	0.80[EUR][1000 genomes]
rs7960381	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs7964570	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7972406	0.85[EUR][1000 genomes]
rs7972608	0.80[YRI][hapmap]
rs7974923	0.80[YRI][hapmap]
rs7975147	0.85[EUR][1000 genomes]
rs7975628	0.80[YRI][hapmap]
rs7976777	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7977104	0.94[GIH][hapmap];0.83[TSI][hapmap]
rs7978723	0.93[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7978782	0.81[YRI][hapmap]
rs7980874	0.96[EUR][1000 genomes]
rs970098	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs970099	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477400-51518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51477800-51518400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:51477800-51518400	Weak transcription	Pancreas	Pancrea
4	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:51483800-51513400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:51484000-51519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:51484800-51507000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:51485000-51507600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr12:51485000-51513200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:51485800-51513200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:51486000-51511400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:51486400-51510800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:51486600-51508000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:51486800-51508000	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr12:51487000-51506600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:51487000-51511400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:51487200-51508200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:51487200-51513000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:51487200-51513200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:51487400-51511000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:51487600-51508200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr12:51487600-51512000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr12:51488000-51507600	Strong transcription	Fetal Intestine Large	intestine
24	chr12:51488400-51526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:51489200-51509400	Weak transcription	Fetal Heart	heart
26	chr12:51493600-51512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:51494400-51515600	Weak transcription	Stomach Mucosa	stomach
28	chr12:51494600-51518200	Weak transcription	Esophagus	oesophagus
29	chr12:51494800-51518400	Weak transcription	Aorta	Aorta
30	chr12:51496400-51523400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:51499000-51507600	Strong transcription	Fetal Lung	lung
32	chr12:51499000-51510200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:51499200-51508000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:51499200-51508200	Strong transcription	Placenta	Placenta
35	chr12:51499200-51513000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr12:51499600-51507800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:51499600-51507800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:51499600-51508000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:51499600-51508000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:51499600-51508200	Strong transcription	Left Ventricle	heart
41	chr12:51499600-51511400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:51499800-51508200	Strong transcription	Primary T cells from cord blood	blood
43	chr12:51499800-51513400	Strong transcription	Fetal Thymus	thymus
44	chr12:51500000-51507600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:51500000-51511400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:51500000-51512800	Strong transcription	Fetal Muscle Leg	muscle
47	chr12:51500200-51506600	Strong transcription	Fetal Stomach	stomach
48	chr12:51500200-51507400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:51500200-51507800	Strong transcription	Thymus	Thymus
50	chr12:51500600-51507600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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