Variant report

Variant	rs11065253
Chromosome Location	chr12:121194627-121194628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121191123..121193615-chr12:121194473..121197241,2	K562	blood:
2	chr12:121161679..121164638-chr12:121193767..121195391,2	K562	blood:

Variant related genes	Relation type
ENSG00000122971	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1055059	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10849777	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10849797	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065179	1.00[ASN][1000 genomes]
rs11065201	1.00[ASN][1000 genomes]
rs11065207	1.00[ASN][1000 genomes]
rs11065210	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065213	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065222	0.83[AMR][1000 genomes]
rs11065226	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065227	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065228	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065258	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065263	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11065267	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.85[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065279	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065281	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11065285	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065288	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065294	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065309	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065315	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065318	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065326	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065328	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065334	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065347	1.00[ASN][1000 genomes]
rs11065353	1.00[ASN][1000 genomes]
rs1151854	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs1151855	1.00[ASN][1000 genomes]
rs1151860	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1151865	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1186042	1.00[ASN][1000 genomes]
rs12366451	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368617	1.00[ASN][1000 genomes]
rs12370534	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1696358	1.00[ASN][1000 genomes]
rs1696362	0.88[CEU][hapmap]
rs1718207	1.00[ASN][1000 genomes]
rs1732397	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1732399	1.00[ASN][1000 genomes]
rs2454728	1.00[ASN][1000 genomes]
rs2701179	1.00[ASN][1000 genomes]
rs497457	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498255	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513940	1.00[ASN][1000 genomes]
rs515784	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519785	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530162	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554197	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572009	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574993	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581197	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs581515	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582678	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590556	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591489	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59818945	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61108232	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61414515	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61624288	1.00[ASN][1000 genomes]
rs627211	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639343	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645661	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs645786	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647336	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs648262	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs651156	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660878	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671815	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708784	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708788	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409953	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73411916	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413874	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7960932	1.00[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
2	chr12:121177800-121197800	Weak transcription	Gastric	stomach
3	chr12:121179800-121197400	Weak transcription	Spleen	Spleen
4	chr12:121180200-121197400	Weak transcription	Pancreas	Pancrea
5	chr12:121183200-121197600	Weak transcription	Esophagus	oesophagus
6	chr12:121186400-121198400	Weak transcription	Right Ventricle	heart
7	chr12:121189600-121197000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:121190400-121197800	Weak transcription	Right Atrium	heart
9	chr12:121193000-121195600	Weak transcription	Fetal Stomach	stomach
10	chr12:121193000-121198400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:121193400-121195600	Weak transcription	Brain Germinal Matrix	brain
12	chr12:121193400-121197400	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:121193600-121197000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:121193800-121197600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:121193800-121198200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:121194000-121196800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:121194000-121197000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:121194000-121197600	Weak transcription	GM12878-XiMat	blood
19	chr12:121194000-121200800	Weak transcription	HepG2	liver
20	chr12:121194200-121195600	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:121194200-121197200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:121194200-121197600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:121194200-121197600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:121194200-121197800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:121194200-121197800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:121194200-121202200	Weak transcription	K562	blood
27	chr12:121194400-121195200	Enhancers	Fetal Intestine Small	intestine
28	chr12:121194400-121195800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr12:121194400-121196800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:121194400-121197000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:121194600-121194800	Enhancers	Fetal Intestine Large	intestine
32	chr12:121194600-121197000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:121194600-121197000	Weak transcription	Placenta	Placenta
34	chr12:121194600-121197400	Weak transcription	Primary T cells from cord blood	blood

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