Variant report

Variant	rs1233054
Chromosome Location	chr12:48084556-48084557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48082467..48084685-chr12:48086429..48089093,4	K562	blood:
2	chr12:48083861..48085835-chr12:48091960..48094223,2	MCF-7	breast:
3	chr12:48082733..48084619-chr12:48086537..48089093,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1034733	0.81[EUR][1000 genomes]
rs11615607	0.91[EUR][1000 genomes]
rs11615629	0.91[EUR][1000 genomes]
rs1233048	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1233056	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1233057	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1233060	1.00[EUR][1000 genomes]
rs1233062	1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[ASN][1000 genomes]
rs2010734	0.97[EUR][1000 genomes]
rs2025	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2072116	0.80[YRI][hapmap]
rs3829317	0.80[YRI][hapmap]
rs757282	0.80[YRI][hapmap]
rs855271	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs855274	0.83[EUR][1000 genomes]
rs855275	0.83[EUR][1000 genomes]
rs855276	0.83[EUR][1000 genomes]
rs855278	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs855279	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs929270	0.80[YRI][hapmap]

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	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv695	chr12:48043261-48088221	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:48040600-48086000	Weak transcription	Fetal Brain Male	brain
3	chr12:48046600-48087800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:48046600-48090000	Weak transcription	Psoas Muscle	Psoas
5	chr12:48046600-48097000	Weak transcription	Brain Angular Gyrus	brain
6	chr12:48046600-48097600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:48046600-48099200	Weak transcription	Gastric	stomach
8	chr12:48046800-48098600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:48046800-48099000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:48050200-48098600	Weak transcription	Pancreas	Pancrea
11	chr12:48052000-48094400	Weak transcription	Aorta	Aorta
12	chr12:48056000-48099000	Weak transcription	Right Ventricle	heart
13	chr12:48057200-48098800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:48058000-48098600	Weak transcription	Colonic Mucosa	Colon
15	chr12:48058200-48086000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:48058800-48086000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:48060400-48088400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:48060600-48086000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:48060600-48094200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:48060800-48094200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:48061600-48088600	Weak transcription	Brain Substantia Nigra	brain
22	chr12:48062600-48094200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:48062800-48098600	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:48063000-48086400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:48063000-48099000	Weak transcription	Small Intestine	intestine
26	chr12:48064600-48086000	Weak transcription	Lung	lung
27	chr12:48064600-48086000	Weak transcription	HSMMtube	muscle
28	chr12:48064600-48099200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:48064800-48089600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:48064800-48090000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:48065000-48092800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:48066400-48086000	Weak transcription	Fetal Heart	heart
33	chr12:48068400-48097200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:48071800-48091600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:48072800-48086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:48072800-48090200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr12:48072800-48091400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:48072800-48091600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:48073000-48091800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:48073200-48086600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:48073600-48091200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:48074000-48093600	Weak transcription	HMEC	breast
43	chr12:48074000-48095400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:48074000-48095800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr12:48074200-48097000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:48074200-48099000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr12:48075000-48086000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:48075400-48085200	Weak transcription	Fetal Kidney	kidney
49	chr12:48075400-48085800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:48075600-48085800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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