Variant report

Variant	rs7964228
Chromosome Location	chr12:121179277-121179278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121173832..121176734-chr12:121177102..121180443,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPPL3.1-1	chr12:121179015-121179321	ENSG00000255946.1

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10849779	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065208	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065211	0.85[ASN][1000 genomes]
rs11065212	0.85[ASN][1000 genomes]
rs11065230	0.91[ASN][1000 genomes]
rs11829037	0.91[ASN][1000 genomes]
rs12296423	0.85[ASN][1000 genomes]
rs1803508	0.87[ASN][1000 genomes]
rs2176086	0.86[EUR][1000 genomes]
rs3830155	0.91[ASN][1000 genomes]
rs4559761	0.90[ASN][1000 genomes]
rs59358833	0.87[ASN][1000 genomes]
rs61229807	0.91[ASN][1000 genomes]
rs6490302	0.91[ASN][1000 genomes]
rs695950	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7303170	0.91[ASN][1000 genomes]
rs73409923	0.86[ASN][1000 genomes]
rs7958698	0.85[ASN][1000 genomes]
rs7972583	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7973907	0.91[ASN][1000 genomes]
rs949443	0.82[EUR][1000 genomes];0.87[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:57 , 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	chr12:121165200-121179600	Weak transcription	Psoas Muscle	Psoas
3	chr12:121166000-121179800	Strong transcription	Fetal Intestine Small	intestine
4	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
5	chr12:121169200-121179600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:121169200-121180200	Weak transcription	Fetal Thymus	thymus
7	chr12:121172600-121180000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:121175200-121179400	Strong transcription	Placenta	Placenta
9	chr12:121176800-121179600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:121177200-121179600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:121177200-121179800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:121177200-121180000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:121177200-121183200	Weak transcription	Primary T cells from cord blood	blood
14	chr12:121177400-121180800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:121177400-121181400	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:121177600-121179400	Weak transcription	Ovary	ovary
17	chr12:121177600-121179400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:121177600-121180200	Weak transcription	Small Intestine	intestine
19	chr12:121177600-121180400	Enhancers	Liver	Liver
20	chr12:121177600-121184600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:121177600-121186000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:121177600-121186200	Weak transcription	Left Ventricle	heart
23	chr12:121177800-121179400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:121177800-121179400	Weak transcription	Adipose Nuclei	Adipose
25	chr12:121177800-121179400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:121177800-121179400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:121177800-121179600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:121177800-121180000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:121177800-121181400	Weak transcription	Dnd41	blood
30	chr12:121177800-121182400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:121177800-121183000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:121177800-121186000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:121177800-121186000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:121177800-121186200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:121177800-121197800	Weak transcription	Gastric	stomach
36	chr12:121178000-121179400	Weak transcription	Pancreas	Pancrea
37	chr12:121178000-121180000	Weak transcription	Lung	lung
38	chr12:121178000-121181200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:121178000-121183600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:121178000-121186000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:121178000-121194400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr12:121178200-121179400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:121178200-121186200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:121178400-121185800	Weak transcription	Colonic Mucosa	Colon
45	chr12:121178600-121180800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:121178600-121182800	Weak transcription	Esophagus	oesophagus
47	chr12:121178800-121179400	Genic enhancers	Spleen	Spleen
48	chr12:121178800-121186000	Weak transcription	Right Ventricle	heart
49	chr12:121179000-121179400	Strong transcription	Fetal Intestine Large	intestine
50	chr12:121179000-121179400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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