Variant report

Variant	rs34708625
Chromosome Location	chr12:121180019-121180020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121170705..121172790-chr12:121179544..121181594,2	MCF-7	breast:
2	chr12:121179321..121181352-chr12:121340474..121342443,2	MCF-7	breast:
3	chr12:121173832..121176734-chr12:121177102..121180443,4	K562	blood:

Variant related genes	Relation type
ENSG00000157837	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12828810	0.91[EUR][1000 genomes]
rs12829722	0.88[EUR][1000 genomes]
rs12832102	0.89[ASN][1000 genomes]
rs1799958	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014355	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066938	0.91[EUR][1000 genomes]
rs2239758	0.93[EUR][1000 genomes]
rs2393778	0.84[EUR][1000 genomes]
rs34030695	0.91[EUR][1000 genomes]
rs34673751	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35525135	0.87[EUR][1000 genomes]
rs35599677	0.88[EUR][1000 genomes]
rs35771722	0.91[EUR][1000 genomes]
rs36066142	0.92[ASN][1000 genomes]
rs3861791	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3916	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3999408	0.93[EUR][1000 genomes]
rs71454661	0.85[EUR][1000 genomes]
rs7306541	0.86[EUR][1000 genomes]
rs7313271	0.90[EUR][1000 genomes]
rs9204	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	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	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
2	chr12:121169200-121180200	Weak transcription	Fetal Thymus	thymus
3	chr12:121177200-121183200	Weak transcription	Primary T cells from cord blood	blood
4	chr12:121177400-121180800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:121177400-121181400	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:121177600-121180200	Weak transcription	Small Intestine	intestine
7	chr12:121177600-121180400	Enhancers	Liver	Liver
8	chr12:121177600-121184600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:121177600-121186000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:121177600-121186200	Weak transcription	Left Ventricle	heart
11	chr12:121177800-121181400	Weak transcription	Dnd41	blood
12	chr12:121177800-121182400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:121177800-121183000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:121177800-121186000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:121177800-121186000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:121177800-121186200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:121177800-121197800	Weak transcription	Gastric	stomach
18	chr12:121178000-121181200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:121178000-121183600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:121178000-121186000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:121178000-121194400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:121178200-121186200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:121178400-121185800	Weak transcription	Colonic Mucosa	Colon
24	chr12:121178600-121180800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:121178600-121182800	Weak transcription	Esophagus	oesophagus
26	chr12:121178800-121186000	Weak transcription	Right Ventricle	heart
27	chr12:121179000-121183000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:121179200-121180200	Enhancers	Fetal Muscle Leg	muscle
29	chr12:121179200-121181000	Weak transcription	Fetal Stomach	stomach
30	chr12:121179400-121180200	Enhancers	Ovary	ovary
31	chr12:121179400-121180200	Enhancers	Pancreas	Pancrea
32	chr12:121179600-121180200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:121179600-121180200	Enhancers	Fetal Intestine Large	intestine
34	chr12:121179600-121180200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr12:121179600-121180200	Flanking Active TSS	HepG2	liver
36	chr12:121179600-121182800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:121179800-121180200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr12:121179800-121180200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr12:121179800-121185600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:121179800-121185600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:121179800-121197400	Weak transcription	Spleen	Spleen
42	chr12:121180000-121180200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:121180000-121180200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr12:121180000-121180200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr12:121180000-121183000	Weak transcription	Fetal Intestine Small	intestine

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