Variant report

Variant	rs17082052
Chromosome Location	chr13:67597634-67597635
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10492594	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10492595	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1323902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1323904	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1323926	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1323927	0.93[EUR][1000 genomes]
rs17070560	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17082025	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs17082029	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17082030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17082032	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17082048	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17082049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17082105	1.00[CEU][hapmap]
rs28623094	0.80[AFR][1000 genomes]
rs56064337	0.80[AFR][1000 genomes]
rs7319864	0.93[EUR][1000 genomes]
rs73211167	0.80[AFR][1000 genomes]
rs73211168	0.80[AFR][1000 genomes]
rs7321207	0.80[EUR][1000 genomes]
rs74096719	0.93[EUR][1000 genomes]
rs74096720	0.93[EUR][1000 genomes]
rs7991921	0.80[AFR][1000 genomes]
rs8001464	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs8001867	1.00[CEU][hapmap]
rs9599174	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs972201	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs972202	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530605	chr13:67126136-67697306	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv900407	chr13:67434161-67603745	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv832640	chr13:67460304-67635966	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv428604	chr13:67480426-67645030	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv900414	chr13:67515590-67701341	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1045093	chr13:67517932-67693875	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv541821	chr13:67517932-67693875	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv430581	chr13:67572850-67762288	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv430582	chr13:67589898-67762299	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1037217	chr13:67589937-67728156	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv1039600	chr13:67593961-67726047	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv541823	chr13:67593961-67726047	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67595800-67598400	Enhancers	Fetal Thymus	thymus
2	chr13:67596600-67598600	Flanking Active TSS	Dnd41	blood
3	chr13:67596800-67597800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:67596800-67597800	Enhancers	Primary hematopoietic stem cells	blood
5	chr13:67596800-67598400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:67596800-67598400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:67597000-67597800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr13:67597000-67597800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr13:67597000-67598200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:67597000-67598200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:67597000-67598200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:67597000-67598400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:67597000-67598400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:67597000-67598400	Enhancers	Primary B cells from cord blood	blood
15	chr13:67597000-67598400	Enhancers	Primary T cells from cord blood	blood
16	chr13:67597000-67598400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:67597200-67597800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:67597200-67598200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr13:67597200-67598400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr13:67597200-67598400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:67597400-67597800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr13:67597400-67597800	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr13:67597400-67597800	Enhancers	Fetal Kidney	kidney
24	chr13:67597400-67597800	Enhancers	HSMM	muscle
25	chr13:67597400-67598000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr13:67597400-67598200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:67597400-67598400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr13:67597400-67598400	Enhancers	NH-A	brain
29	chr13:67597400-67598400	Enhancers	Osteobl	bone
30	chr13:67597400-67598800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:67597600-67598000	Enhancers	Primary B cells from peripheral blood	blood
32	chr13:67597600-67598000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:67597600-67598000	Active TSS	Thymus	Thymus
34	chr13:67597600-67598200	Weak transcription	Brain Substantia Nigra	brain

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