Variant report

Variant	rs34415086
Chromosome Location	chr12:122220559-122220560
allele	C/T
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:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122217817..122222625-chr12:122235790..122242692,8	K562	blood:
2	chr12:122215351..122218115-chr12:122220558..122222536,3	K562	blood:
3	chr12:122219403..122222568-chr12:122228956..122233435,5	K562	blood:
4	chr12:122218052..122221666-chr12:122223927..122226116,4	MCF-7	breast:
5	chr12:122139575..122141363-chr12:122218691..122220563,2	MCF-7	breast:
6	chr12:122219448..122221422-chr12:122224935..122227842,2	MCF-7	breast:
7	chr12:122219428..122221615-chr12:122247331..122249175,2	K562	blood:
8	chr12:122216201..122218544-chr12:122220514..122222536,2	K562	blood:
9	chr12:122213667..122215925-chr12:122218453..122221543,3	MCF-7	breast:
10	chr12:122217066..122219995-chr12:122220346..122223627,4	MCF-7	breast:
11	chr12:122212369..122214424-chr12:122220297..122223082,3	K562	blood:
12	chr12:122216581..122218765-chr12:122219403..122221969,2	MCF-7	breast:
13	chr12:122220378..122221895-chr12:122249646..122252036,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SETD1B-4	chr12:122218847-122220907	NONHSAT031439
2	lnc-SETD1B-4	chr12:122219938-122220907	NONHSAT031441

No data

Variant related genes	Relation type
ENSG00000188735	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139718	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10082850	0.91[EUR][1000 genomes]
rs11834522	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11837955	0.98[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs12299238	0.91[EUR][1000 genomes]
rs12303659	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs12310051	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12312375	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12314801	0.96[EUR][1000 genomes]
rs12318048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12832268	0.98[EUR][1000 genomes]
rs12832320	0.87[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs28493021	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs34226605	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs3741588	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136373	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7300684	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7308123	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7308348	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73413728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413732	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9282	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122183800-122224400	Weak transcription	Small Intestine	intestine
2	chr12:122206400-122228200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:122206400-122230600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:122206600-122226400	Weak transcription	Aorta	Aorta
5	chr12:122211600-122225000	Weak transcription	Psoas Muscle	Psoas
6	chr12:122211600-122231200	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:122211800-122231600	Weak transcription	Brain Substantia Nigra	brain
8	chr12:122213400-122221200	Genic enhancers	Fetal Thymus	thymus
9	chr12:122214200-122228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:122214600-122224200	Weak transcription	Pancreas	Pancrea
11	chr12:122214600-122224800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122215400-122223000	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr12:122217200-122222400	Weak transcription	Liver	Liver
14	chr12:122217800-122230400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:122218600-122220600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:122218800-122220600	Enhancers	Esophagus	oesophagus
17	chr12:122218800-122220600	Genic enhancers	Spleen	Spleen
18	chr12:122218800-122220800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:122218800-122221200	Enhancers	Primary hematopoietic stem cells	blood
20	chr12:122219000-122220600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr12:122219000-122220800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:122219000-122220800	Genic enhancers	Fetal Muscle Leg	muscle
23	chr12:122219000-122220800	Enhancers	NH-A	brain
24	chr12:122219000-122221000	Enhancers	Fetal Muscle Trunk	muscle
25	chr12:122219000-122225000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:122219000-122227400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:122219000-122229800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:122219200-122220600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:122219200-122220600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:122219200-122220800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:122219200-122220800	Enhancers	NHEK	skin
32	chr12:122219200-122221200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:122219200-122222800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:122219200-122224200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:122219200-122224200	Weak transcription	Gastric	stomach
36	chr12:122219200-122224400	Weak transcription	Dnd41	blood
37	chr12:122219200-122230600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:122219200-122230600	Weak transcription	Fetal Brain Female	brain
39	chr12:122219400-122220600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:122219400-122220600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:122219400-122220600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:122219400-122220600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:122219400-122220600	Enhancers	Fetal Heart	heart
44	chr12:122219400-122220600	Enhancers	Placenta	Placenta
45	chr12:122219400-122220600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr12:122219400-122220600	Enhancers	Rectal Smooth Muscle	rectum
47	chr12:122219400-122220600	Flanking Active TSS	HepG2	liver
48	chr12:122219400-122220600	Enhancers	HSMMtube	muscle
49	chr12:122219400-122220800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:122219400-122220800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--

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