Variant report

Variant	rs12054712
Chromosome Location	chr5:146853057-146853058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:146852615..146855525-chr5:146856529..146860037,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10072652	0.80[JPT][hapmap];0.96[YRI][hapmap];0.80[ASN][1000 genomes]
rs10075216	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17106769	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4705171	0.82[YRI][hapmap]
rs7734086	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs958677	1.00[CEU][hapmap];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv5055	chr5:146812672-146857424	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv992285	chr5:146843809-146854803	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146835800-146858800	Weak transcription	NH-A	brain
2	chr5:146840000-146859200	Weak transcription	NHLF	lung
3	chr5:146842600-146857600	Weak transcription	Osteobl	bone
4	chr5:146844400-146857800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:146846600-146858000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:146846600-146863600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:146849000-146859200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:146850400-146854000	Enhancers	Brain Germinal Matrix	brain
9	chr5:146850400-146854200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:146850600-146858800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:146851400-146853400	Enhancers	Colon Smooth Muscle	Colon
12	chr5:146851400-146856000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:146851600-146853400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:146851600-146854000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:146851800-146853400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:146851800-146856000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:146851800-146859400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:146851800-146883000	Weak transcription	Psoas Muscle	Psoas
19	chr5:146852000-146854000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:146852200-146853600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:146852400-146853400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr5:146852600-146853400	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:146852600-146855600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:146852800-146853800	Enhancers	Ovary	ovary
25	chr5:146852800-146853800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:146852800-146858000	Weak transcription	Aorta	Aorta
27	chr5:146852800-146858800	Weak transcription	Fetal Stomach	stomach
28	chr5:146853000-146853800	Enhancers	HUES48 Cell Line	embryonic stem cell

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