Variant report

Variant	rs3916
Chromosome Location	chr12:121177272-121177273
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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	chr12:121171766..121173339-chr12:121175246..121177538,2	K562	blood:
7	chr11:67141023..67142718-chr12:121176121..121177621,2	MCF-7	breast:
8	chr12:121173832..121176734-chr12:121177102..121180443,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122971	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000265455	Chromatin interaction
ENSG00000256569	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10431384	0.80[CEU][hapmap]
rs10431386	0.84[CEU][hapmap]
rs12828810	0.91[EUR][1000 genomes]
rs12829722	0.88[EUR][1000 genomes]
rs1799958	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2014355	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2066938	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2239758	0.93[EUR][1000 genomes]
rs2393778	0.84[EUR][1000 genomes]
rs34030695	0.91[EUR][1000 genomes]
rs34673751	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34708625	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35525135	0.87[EUR][1000 genomes]
rs35599677	0.88[EUR][1000 genomes]
rs35771722	0.91[EUR][1000 genomes]
rs3861791	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3999408	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs71454661	0.85[EUR][1000 genomes]
rs7306541	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7313271	0.90[EUR][1000 genomes]
rs9204	0.90[JPT][hapmap];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

Variant related diseases (count:1)

Disease	PMID	Source
Urinary metabolites (H-NMR features)	24586186	GWAS catalog

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121164400-121177600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:121164400-121179600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:121164600-121178000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:121164800-121178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:121165000-121177800	Weak transcription	A549	lung
6	chr12:121165200-121179600	Weak transcription	Psoas Muscle	Psoas
7	chr12:121165600-121178000	Weak transcription	Stomach Mucosa	stomach
8	chr12:121166000-121179800	Strong transcription	Fetal Intestine Small	intestine
9	chr12:121167000-121178400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:121168400-121179200	Weak transcription	HepG2	liver
11	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
12	chr12:121168800-121177800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:121168800-121178800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:121168800-121178800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:121169000-121177600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:121169000-121177600	Weak transcription	Fetal Lung	lung
17	chr12:121169000-121178400	Weak transcription	Brain Substantia Nigra	brain
18	chr12:121169000-121178400	Weak transcription	Osteobl	bone
19	chr12:121169000-121178600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:121169200-121178200	Weak transcription	Brain Germinal Matrix	brain
21	chr12:121169200-121179000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr12:121169200-121179600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:121169200-121180200	Weak transcription	Fetal Thymus	thymus
24	chr12:121171000-121178000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:121171800-121177600	Strong transcription	Fetal Intestine Large	intestine
26	chr12:121171800-121179200	Strong transcription	Fetal Stomach	stomach
27	chr12:121172600-121180000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:121174000-121177800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:121174000-121178000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:121174000-121178000	Genic enhancers	Spleen	Spleen
31	chr12:121174200-121177600	Strong transcription	Left Ventricle	heart
32	chr12:121174200-121177800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:121174200-121177800	Strong transcription	Gastric	stomach
34	chr12:121174200-121177800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr12:121174200-121178000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr12:121174200-121178200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:121174200-121178400	Strong transcription	Colonic Mucosa	Colon
38	chr12:121174200-121178800	Strong transcription	Right Ventricle	heart
39	chr12:121174400-121177800	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:121174600-121178000	Strong transcription	Lung	lung
41	chr12:121174600-121179000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:121174800-121177800	Strong transcription	Adipose Nuclei	Adipose
43	chr12:121174800-121177800	Strong transcription	Thymus	Thymus
44	chr12:121174800-121178600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:121174800-121178600	Strong transcription	Esophagus	oesophagus
46	chr12:121175200-121177600	Genic enhancers	Liver	Liver
47	chr12:121175200-121177600	Strong transcription	Ovary	ovary
48	chr12:121175200-121179400	Strong transcription	Placenta	Placenta
49	chr12:121175400-121177400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:121175400-121178000	Strong transcription	Pancreas	Pancrea

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