Variant report

Variant	rs2460905
Chromosome Location	chr8:12834600-12834601
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	chr8:12832989..12835183-chr8:12836926..12839783,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2460346	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2460347	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460352	1.00[GIH][hapmap]
rs2460898	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460903	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2466255	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2466256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2466273	1.00[CEU][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs2947370	0.85[GIH][hapmap]
rs6992991	0.90[EUR][1000 genomes]
rs73204351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349565	chr8:12478847-12927595	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv931594	chr8:12556004-13238849	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv948913	chr8:12559835-13444346	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv530902	chr8:12586413-13401795	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1030002	chr8:12736989-12903261	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv465469	chr8:12807061-12895780	Weak transcription Enhancers Flanking Active TSS Strong 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	2 gene(s)	inside rSNPs	diseases
7	nsv610409	chr8:12807061-12895780	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1022427	chr8:12814583-12840361	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1028076	chr8:12817882-12840361	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Post-traumatic stress disorder	24677629	GWAS catalog

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:12830400-12837000	Weak transcription	HSMMtube	muscle
2	chr8:12830600-12856000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:12830800-12836200	Weak transcription	Fetal Lung	lung
4	chr8:12831000-12836200	Weak transcription	Right Ventricle	heart
5	chr8:12831200-12836400	Weak transcription	Right Atrium	heart
6	chr8:12831400-12836200	Weak transcription	Left Ventricle	heart
7	chr8:12831800-12841600	Weak transcription	Fetal Brain Male	brain
8	chr8:12832400-12851000	Weak transcription	Fetal Brain Female	brain
9	chr8:12833200-12835000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:12833400-12839400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:12833600-12834800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:12833600-12834800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:12833600-12834800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:12833600-12834800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:12833600-12835000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:12833600-12835000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:12833600-12835200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:12833800-12835600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:12834000-12834600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:12834000-12835000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:12834200-12834600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:12834200-12834600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:12834200-12834600	Enhancers	Gastric	stomach
24	chr8:12834200-12834600	Enhancers	Pancreas	Pancrea
25	chr8:12834200-12834600	Enhancers	A549	lung
26	chr8:12834200-12834800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:12834200-12834800	Enhancers	Fetal Heart	heart
28	chr8:12834200-12834800	Enhancers	Fetal Kidney	kidney
29	chr8:12834200-12834800	Enhancers	HepG2	liver
30	chr8:12834200-12835000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:12834200-12836400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:12834400-12834800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr8:12834400-12834800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:12834400-12834800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:12834400-12834800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr8:12834400-12834800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:12834400-12834800	Enhancers	Duodenum Mucosa	Duodenum
38	chr8:12834400-12839000	Enhancers	Placenta	Placenta
39	chr8:12834600-12834800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:12834600-12834800	Flanking Active TSS	A549	lung
41	chr8:12834600-12835400	Weak transcription	Pancreas	Pancrea
42	chr8:12834600-12837200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:12834600-12849200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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