Variant report

Variant	rs12134109
Chromosome Location	chr1:57011661-57011662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:57011627..57012296-chr4:149920015..149920615,2	MCF-7	breast:
2	chr1:57010110..57012912-chr1:57012991..57015582,3	K562	blood:
3	chr1:57010225..57012912-chr1:57013019..57015582,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10493211	0.92[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10789026	1.00[JPT][hapmap]
rs10888977	0.84[CEU][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10888978	1.00[JPT][hapmap]
rs11206831	1.00[JPT][hapmap]
rs11206832	1.00[JPT][hapmap]
rs11206835	1.00[JPT][hapmap]
rs11206838	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576602	1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11582172	1.00[JPT][hapmap]
rs12082242	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12402226	1.00[JPT][hapmap]
rs12406517	1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1572057	1.00[JPT][hapmap]
rs1930760	0.81[EUR][1000 genomes]
rs2017955	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404716	0.81[CHD][hapmap];0.81[YRI][hapmap]
rs3738570	1.00[JPT][hapmap]
rs3927762	1.00[JPT][hapmap]
rs56152906	0.80[AMR][1000 genomes]
rs7528118	1.00[JPT][hapmap]
rs7551402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8016	1.00[JPT][hapmap]
rs869934	1.00[JPT][hapmap]
rs953856	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs953857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
2	chr1:56994000-57012400	Weak transcription	Fetal Brain Male	brain
3	chr1:56994000-57012800	Weak transcription	Fetal Brain Female	brain
4	chr1:56999400-57012800	Weak transcription	HSMMtube	muscle
5	chr1:57000400-57013000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:57001200-57018800	Weak transcription	A549	lung
7	chr1:57001800-57018600	Weak transcription	Small Intestine	intestine
8	chr1:57001800-57021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:57002800-57013200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:57002800-57018600	Weak transcription	Thymus	Thymus
11	chr1:57003200-57019800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:57003400-57015400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:57003600-57013200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:57004000-57014800	Weak transcription	Fetal Thymus	thymus
15	chr1:57004400-57013200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:57005600-57013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:57005800-57013200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:57006200-57012200	Weak transcription	Fetal Intestine Large	intestine
19	chr1:57006600-57012200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:57007400-57028400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:57007600-57013400	Weak transcription	Osteobl	bone
22	chr1:57007800-57015400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:57008400-57013000	Weak transcription	HSMM	muscle
24	chr1:57008600-57012400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:57008600-57013200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:57008600-57014800	Weak transcription	Brain Germinal Matrix	brain
27	chr1:57008600-57015000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:57008800-57013400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:57009200-57012000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:57009200-57014600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:57009400-57012200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:57009600-57012000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:57009600-57012000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:57009600-57028000	Weak transcription	Fetal Kidney	kidney
35	chr1:57009800-57012400	Enhancers	Fetal Lung	lung
36	chr1:57009800-57013200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:57010200-57012000	Enhancers	Brain Cingulate Gyrus	brain
38	chr1:57010400-57011800	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:57010400-57012000	Enhancers	Ovary	ovary
40	chr1:57010400-57012000	Enhancers	Psoas Muscle	Psoas
41	chr1:57010400-57012000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:57010400-57012200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr1:57010400-57012800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:57010400-57019200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr1:57010400-57019600	Enhancers	Right Ventricle	heart
46	chr1:57010600-57011800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:57010600-57012800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:57010600-57013000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:57010600-57017200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr1:57010800-57012000	Genic enhancers	NHLF	lung

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