Variant report

Variant	rs34734847
Chromosome Location	chr12:121154221-121154222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121124118..121126659-chr12:121152766..121154503,2	K562	blood:
2	chr12:121148398..121150885-chr12:121151004..121154800,4	MCF-7	breast:
3	chr12:121151830..121154450-chr12:121158751..121160355,2	MCF-7	breast:
4	chr12:121019438..121021278-chr12:121153857..121156212,2	K562	blood:

Variant related genes	Relation type
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10431385	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12311479	0.84[ASN][1000 genomes]
rs12828810	0.97[ASN][1000 genomes]
rs12829722	0.97[ASN][1000 genomes]
rs2005455	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2066938	0.97[ASN][1000 genomes]
rs2239758	0.90[ASN][1000 genomes]
rs2239760	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2948149	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3021337	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3021338	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34030695	0.97[ASN][1000 genomes]
rs35360964	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35525135	0.90[ASN][1000 genomes]
rs35599677	0.90[ASN][1000 genomes]
rs35771722	0.97[ASN][1000 genomes]
rs3752531	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3999408	0.90[ASN][1000 genomes]
rs548093	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs556001	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55730005	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56273049	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57830821	0.85[ASN][1000 genomes]
rs60858026	0.90[ASN][1000 genomes]
rs6490300	0.80[EUR][1000 genomes]
rs695948	0.87[EUR][1000 genomes]
rs695949	0.84[EUR][1000 genomes]
rs696337	0.80[EUR][1000 genomes]
rs71454661	0.90[ASN][1000 genomes]
rs7306541	0.90[ASN][1000 genomes]
rs7313271	0.97[ASN][1000 genomes]
rs998727	0.98[AMR][1000 genomes];0.95[EUR][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	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121149600-121157200	Weak transcription	Psoas Muscle	Psoas
2	chr12:121149600-121159000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:121149800-121157600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:121149800-121162800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:121150000-121154400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:121150000-121154800	Weak transcription	Small Intestine	intestine
7	chr12:121150000-121155200	Strong transcription	HSMM	muscle
8	chr12:121150000-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:121150200-121157400	Strong transcription	Osteobl	bone
10	chr12:121150400-121157800	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:121150400-121161600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:121150400-121163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:121150600-121158400	Strong transcription	NH-A	brain
14	chr12:121150800-121162400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:121150800-121162400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:121151000-121156200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:121151000-121158200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:121151000-121158200	Strong transcription	HMEC	breast
19	chr12:121151000-121161200	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr12:121151000-121161800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:121151000-121161800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:121151000-121162200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:121151000-121163000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:121151200-121154800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:121151200-121155400	Strong transcription	Fetal Intestine Small	intestine
26	chr12:121151200-121155800	Strong transcription	Fetal Intestine Large	intestine
27	chr12:121151200-121156000	Strong transcription	Liver	Liver
28	chr12:121151200-121156200	Strong transcription	Fetal Kidney	kidney
29	chr12:121151200-121156800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:121151200-121156800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:121151200-121157200	Strong transcription	Gastric	stomach
32	chr12:121151200-121157400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr12:121151200-121157800	Strong transcription	NHLF	lung
34	chr12:121151200-121158000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:121151200-121158000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:121151200-121158000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:121151200-121158200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:121151200-121158200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr12:121151200-121158200	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:121151200-121158600	Strong transcription	NHEK	skin
41	chr12:121151200-121160400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:121151200-121160600	Strong transcription	Lung	lung
43	chr12:121151200-121161200	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr12:121151200-121161200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:121151200-121161200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:121151200-121161200	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr12:121151200-121161200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr12:121151200-121161200	Strong transcription	Hela-S3	cervix
49	chr12:121151200-121161200	Strong transcription	HUVEC	blood vessel
50	chr12:121151200-121161400	Strong transcription	Fetal Muscle Leg	muscle

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