Variant report

Variant	rs11065238
Chromosome Location	chr12:121177638-121177639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121166188..121170592-chr12:121174629..121177744,4	K562	blood:
2	chr12:121161408..121164023-chr12:121176552..121178436,2	K562	blood:
3	chr12:121158850..121162908-chr12:121176341..121179016,3	K562	blood:
4	chr12:121166701..121168249-chr12:121176996..121179213,2	MCF-7	breast:
5	chr12:120965517..120967163-chr12:121175492..121177700,2	K562	blood:
6	chr12:121173832..121176734-chr12:121177102..121180443,4	K562	blood:

Variant related genes	Relation type
ENSG00000122971	Chromatin interaction
ENSG00000256569	Chromatin interaction
ENSG00000265455	Chromatin interaction
ENSG00000110871	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10431372	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10431383	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10849780	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10849781	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065194	0.86[EUR][1000 genomes]
rs11065195	0.86[EUR][1000 genomes]
rs11065196	0.86[EUR][1000 genomes]
rs11065197	0.86[EUR][1000 genomes]
rs11065198	0.86[EUR][1000 genomes]
rs11065199	0.86[EUR][1000 genomes]
rs11065204	0.86[EUR][1000 genomes]
rs11065205	0.86[EUR][1000 genomes]
rs11065214	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065215	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065217	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11065220	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065221	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065224	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065229	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065234	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065235	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065243	1.00[ASN][1000 genomes]
rs11065244	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065245	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228118	0.86[EUR][1000 genomes]
rs12229164	0.86[EUR][1000 genomes]
rs12229181	0.86[EUR][1000 genomes]
rs12231101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12231499	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17848090	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071266	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2229534	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239687	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239757	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2239759	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3751166	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7302002	0.86[EUR][1000 genomes]
rs7973568	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
3	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
4	nsv899558	chr12:121161589-121179939	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121164400-121179600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:121164600-121178000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:121164800-121178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:121165000-121177800	Weak transcription	A549	lung
5	chr12:121165200-121179600	Weak transcription	Psoas Muscle	Psoas
6	chr12:121165600-121178000	Weak transcription	Stomach Mucosa	stomach
7	chr12:121166000-121179800	Strong transcription	Fetal Intestine Small	intestine
8	chr12:121167000-121178400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:121168400-121179200	Weak transcription	HepG2	liver
10	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
11	chr12:121168800-121177800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:121168800-121178800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:121168800-121178800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:121169000-121178400	Weak transcription	Brain Substantia Nigra	brain
15	chr12:121169000-121178400	Weak transcription	Osteobl	bone
16	chr12:121169000-121178600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:121169200-121178200	Weak transcription	Brain Germinal Matrix	brain
18	chr12:121169200-121179000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:121169200-121179600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:121169200-121180200	Weak transcription	Fetal Thymus	thymus
21	chr12:121171000-121178000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:121171800-121179200	Strong transcription	Fetal Stomach	stomach
23	chr12:121172600-121180000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:121174000-121177800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:121174000-121178000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:121174000-121178000	Genic enhancers	Spleen	Spleen
27	chr12:121174200-121177800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr12:121174200-121177800	Strong transcription	Gastric	stomach
29	chr12:121174200-121177800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr12:121174200-121178000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr12:121174200-121178200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:121174200-121178400	Strong transcription	Colonic Mucosa	Colon
33	chr12:121174200-121178800	Strong transcription	Right Ventricle	heart
34	chr12:121174400-121177800	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:121174600-121178000	Strong transcription	Lung	lung
36	chr12:121174600-121179000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:121174800-121177800	Strong transcription	Adipose Nuclei	Adipose
38	chr12:121174800-121177800	Strong transcription	Thymus	Thymus
39	chr12:121174800-121178600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:121174800-121178600	Strong transcription	Esophagus	oesophagus
41	chr12:121175200-121179400	Strong transcription	Placenta	Placenta
42	chr12:121175400-121178000	Strong transcription	Pancreas	Pancrea
43	chr12:121175800-121177800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:121176000-121177800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:121176000-121177800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:121176000-121177800	Strong transcription	Dnd41	blood
47	chr12:121176200-121177800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:121176600-121177800	Strong transcription	Brain Cingulate Gyrus	brain
49	chr12:121176600-121178000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:121176800-121178000	Strong transcription	Fetal Muscle Leg	muscle

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