Variant report

Variant	rs11065288
Chromosome Location	chr12:121274674-121274675
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121274655-121274705	GM12878	blood:	n/a
2	chr12:121274655-121274705	PANC-1	pancreas:	n/a
3	chr12:121274655-121274705	NHDF-neo	bronchial:	n/a
4	chr12:121274655-121274705	SKMC	muscle:	n/a
5	chr12:121274655-121274705	BE2_C	brain:	n/a
6	chr12:121274655-121274705	NB4	blood:	n/a
7	chr12:121274655-121274705	LNCaP	prostate:	n/a
8	chr12:121274655-121274705	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:121274655-121274705	Jurkat	blood:	n/a
10	chr12:121274655-121274705	HIPEpiC	eye:	n/a
11	chr12:121274655-121274705	SAEC	small airway:	n/a
12	chr12:121274655-121274705	SK-N-SH_RA	brain:	n/a
13	chr12:121274655-121274705	GM12891	blood:	n/a
14	chr12:121274655-121274705	SK-N-MC	brain:	n/a
15	chr12:121274655-121274705	NH-A	brain:	n/a
16	chr12:121274655-121274705	PFSK-1	brain:	n/a
17	chr12:121274655-121274705	SK-N-SH	brain:	n/a
18	chr12:121274655-121274705	MCF10A-Er-Src	breast:	n/a
19	chr12:121274655-121274705	Hepatocyte	liver:	n/a
20	chr12:121274655-121274705	K562	blood:	n/a
21	chr12:121274655-121274705	HNPCEpiC	eye:	n/a
22	chr12:121274655-121274705	AG04450	lung:	fetal
23	chr12:121274655-121274705	CMK	blood:	n/a
24	chr12:121274655-121274705	ProgFib	skin:	n/a
25	chr12:121274655-121274705	AG10803	skin:	n/a
26	chr12:121274655-121274705	HRPEpiC	eye:	n/a
27	chr12:121274655-121274705	HAEpiC	amniotic membrane:	n/a
28	chr12:121274655-121274705	HCF	heart:	n/a
29	chr12:121274655-121274705	AG09309	skin:	n/a
30	chr12:121274655-121274705	HEK293	kidney:	embryo
31	chr12:121274655-121274705	ovcar-3	ovarian:	n/a
32	chr12:121274655-121274705	A549	lung:	n/a
33	chr12:121274655-121274705	AoSMC	blood vessel:	n/a
34	chr12:121274655-121274705	PrEC	prostate:	n/a
35	chr12:121274655-121274705	Caco-2	colon:	n/a
36	chr12:121274655-121274705	U87	brain:	n/a
37	chr12:121274655-121274705	H1-hESC	embryonic stem cell:	embryo
38	chr12:121274655-121274705	Hela-S3	cervix:	n/a
39	chr12:121274655-121274705	GM19239	blood:	n/a
40	chr12:121274655-121274705	HCT-116	colon:	n/a
41	chr12:121274655-121274705	GM12892	blood:	n/a
42	chr12:121274655-121274705	AG09319	gingival:	n/a
43	chr12:121274655-121274705	HMEC	breast:	n/a
44	chr12:121274655-121274705	IMR90	lung:	fetal
45	chr12:121274655-121274705	RPTEC	kidney:	n/a
46	chr12:121274655-121274705	MCF-7	breast:	n/a
47	chr12:121274655-121274705	GM06990	blood:	n/a
48	chr12:121274655-121274705	HEEpiC	esophagus:	n/a
49	chr12:121274655-121274705	HUVEC	blood vessel:	n/a
50	chr12:121274655-121274705	NT2-D1	testis:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121273900..121276013-chr12:121279474..121281086,2	MCF-7	breast:
2	chr12:121274654..121277488-chr12:121317944..121319599,2	K562	blood:

No data

Variant related genes	Relation type
SPPL3	CpG island

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

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];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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]
rs11065253	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065258	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065263	0.83[AMR][1000 genomes]
rs11065267	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.86[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065294	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065309	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065315	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065318	0.83[AMR][1000 genomes];0.80[EUR][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];0.83[YRI][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];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151855	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151860	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151865	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1186042	1.00[ASN][1000 genomes]
rs12366451	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[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	0.89[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	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519785	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530162	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554197	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572009	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574993	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581197	1.00[ASN][1000 genomes]
rs581515	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582678	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591489	0.84[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];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645661	1.00[CEU][hapmap];0.84[EUR][1000 genomes];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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660878	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];0.84[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413874	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7960932	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121264800-121275000	Enhancers	Brain Hippocampus Middle	brain
2	chr12:121266800-121276200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr12:121267200-121282800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:121267600-121285800	Weak transcription	Colonic Mucosa	Colon
5	chr12:121267800-121274800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr12:121268400-121274800	Enhancers	Rectal Smooth Muscle	rectum
7	chr12:121268600-121274800	Enhancers	Colon Smooth Muscle	Colon
8	chr12:121268600-121276200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:121268600-121276600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:121269000-121278400	Weak transcription	Ovary	ovary
11	chr12:121269800-121281200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:121269800-121281200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:121269800-121282800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:121269800-121291400	Weak transcription	Fetal Intestine Large	intestine
15	chr12:121270200-121274800	Enhancers	Fetal Thymus	thymus
16	chr12:121270200-121274800	Enhancers	Thymus	Thymus
17	chr12:121270600-121275200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:121270800-121274800	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:121271000-121274800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr12:121271000-121275000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr12:121271200-121278400	Weak transcription	Fetal Intestine Small	intestine
22	chr12:121271600-121274800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr12:121271800-121274800	Enhancers	Dnd41	blood
24	chr12:121272200-121274800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:121272200-121275000	Enhancers	Fetal Lung	lung
26	chr12:121272600-121274800	Enhancers	NHEK	skin
27	chr12:121272800-121274800	Enhancers	Fetal Brain Male	brain
28	chr12:121272800-121285600	Weak transcription	Hela-S3	cervix
29	chr12:121273200-121276400	Enhancers	Fetal Heart	heart
30	chr12:121273400-121281200	Weak transcription	K562	blood
31	chr12:121273600-121274800	Enhancers	Psoas Muscle	Psoas
32	chr12:121273800-121274800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr12:121273800-121274800	Enhancers	Gastric	stomach
34	chr12:121273800-121274800	Enhancers	Pancreas	Pancrea
35	chr12:121273800-121274800	Enhancers	GM12878-XiMat	blood
36	chr12:121273800-121275000	Enhancers	Left Ventricle	heart
37	chr12:121273800-121280200	Weak transcription	HSMMtube	muscle
38	chr12:121273800-121282800	Weak transcription	Fetal Stomach	stomach
39	chr12:121274000-121274800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr12:121274000-121274800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr12:121274000-121274800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:121274000-121274800	Genic enhancers	Esophagus	oesophagus
43	chr12:121274000-121275000	Enhancers	Stomach Mucosa	stomach
44	chr12:121274000-121278800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:121274000-121279400	Weak transcription	Brain Anterior Caudate	brain
46	chr12:121274000-121284000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:121274000-121285800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:121274000-121287200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:121274200-121274800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr12:121274200-121274800	Enhancers	Duodenum Mucosa	Duodenum

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