Variant report

Variant	rs1548
Chromosome Location	chr12:4806553-4806554
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1009634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10128935	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1024656	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735037	0.97[ASN][1000 genomes]
rs10735038	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849118	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[ASN][1000 genomes]
rs2058209	0.80[EUR][1000 genomes]
rs4147690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4147694	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4766271	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7310700	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7311644	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7313982	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7977127	0.92[CHB][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7978162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.97[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	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4780200-4809200	Weak transcription	Fetal Heart	heart
2	chr12:4787800-4810800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:4791200-4806600	Strong transcription	Fetal Muscle Trunk	muscle
4	chr12:4792600-4809400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:4795000-4810000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:4795400-4806800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:4797000-4811000	Weak transcription	Small Intestine	intestine
8	chr12:4797400-4807400	Weak transcription	GM12878-XiMat	blood
9	chr12:4797400-4809800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:4797400-4809800	Weak transcription	NH-A	brain
11	chr12:4797600-4807800	Weak transcription	Brain Substantia Nigra	brain
12	chr12:4797600-4809800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:4797600-4809800	Weak transcription	Gastric	stomach
14	chr12:4797600-4809800	Weak transcription	Right Ventricle	heart
15	chr12:4797600-4809800	Weak transcription	NHLF	lung
16	chr12:4797600-4810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:4797600-4810800	Weak transcription	HepG2	liver
18	chr12:4797800-4809600	Weak transcription	Fetal Brain Male	brain
19	chr12:4797800-4809800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:4797800-4809800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:4797800-4810200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:4797800-4810600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:4798000-4808000	Weak transcription	Psoas Muscle	Psoas
24	chr12:4798000-4809200	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:4798000-4809600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:4798000-4809800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:4798000-4809800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:4798000-4810000	Weak transcription	Ovary	ovary
29	chr12:4798000-4811400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:4798000-4813400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:4798000-4814200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:4798200-4810800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:4798400-4809800	Weak transcription	Adipose Nuclei	Adipose
34	chr12:4798400-4817200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:4799200-4807200	Weak transcription	Brain Angular Gyrus	brain
36	chr12:4799200-4809800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:4799400-4809000	Weak transcription	Thymus	Thymus
38	chr12:4799400-4809800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:4799400-4809800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:4799400-4809800	Weak transcription	Aorta	Aorta
41	chr12:4799400-4810600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:4799400-4811000	Weak transcription	Spleen	Spleen
43	chr12:4799400-4811200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:4799400-4811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:4799400-4812000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:4799600-4809800	Weak transcription	Brain Anterior Caudate	brain
47	chr12:4799600-4811400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:4799600-4826800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr12:4799800-4810000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:4799800-4810800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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