Variant report

Variant	rs13417294
Chromosome Location	chr2:9830414-9830415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9819937..9821738-chr2:9829641..9832067,2	MCF-7	breast:
2	chr2:9828760..9831117-chr2:9835245..9838030,2	K562	blood:
3	chr2:9825009..9828236-chr2:9829697..9833325,6	K562	blood:
4	chr2:9830401..9832024-chr2:9844409..9846965,2	K562	blood:
5	chr2:9770790..9772411-chr2:9828051..9830819,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1004488	1.00[EUR][1000 genomes]
rs10185303	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10188428	1.00[EUR][1000 genomes]
rs10200454	1.00[EUR][1000 genomes]
rs10208526	1.00[EUR][1000 genomes]
rs10469619	1.00[EUR][1000 genomes]
rs11685143	1.00[EUR][1000 genomes]
rs11900302	1.00[EUR][1000 genomes]
rs11901478	1.00[EUR][1000 genomes]
rs13392859	1.00[EUR][1000 genomes]
rs13392861	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13420034	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16867063	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16867103	1.00[EUR][1000 genomes]
rs16867145	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4327210	1.00[EUR][1000 genomes]
rs56832685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57119165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58377484	1.00[EUR][1000 genomes]
rs59042599	1.00[EUR][1000 genomes]
rs59457002	1.00[EUR][1000 genomes]
rs60115192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73155171	1.00[EUR][1000 genomes]
rs73164230	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73164231	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164234	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164239	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164242	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9821800-9833000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:9826800-9832800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:9829600-9831200	Enhancers	Spleen	Spleen
4	chr2:9829600-9831600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:9829600-9831800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:9830200-9830800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:9830200-9830800	Enhancers	Esophagus	oesophagus
8	chr2:9830200-9830800	Enhancers	Placenta	Placenta
9	chr2:9830200-9831000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:9830200-9831000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:9830200-9831000	Enhancers	Primary hematopoietic stem cells	blood
12	chr2:9830200-9831000	Enhancers	Adipose Nuclei	Adipose
13	chr2:9830200-9831000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:9830200-9831000	Enhancers	NHDF-Ad	bronchial
15	chr2:9830200-9831000	Enhancers	Osteobl	bone
16	chr2:9830200-9831200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:9830200-9831200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:9830200-9831200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:9830200-9831200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:9830200-9831200	Enhancers	Left Ventricle	heart
21	chr2:9830200-9831400	Enhancers	HMEC	breast
22	chr2:9830200-9831600	Enhancers	Fetal Muscle Trunk	muscle
23	chr2:9830200-9831600	Enhancers	Stomach Smooth Muscle	stomach
24	chr2:9830200-9831800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:9830200-9832400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:9830400-9830600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:9830400-9830600	Enhancers	HSMM	muscle
28	chr2:9830400-9830800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:9830400-9830800	Enhancers	Fetal Thymus	thymus
30	chr2:9830400-9831000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:9830400-9831000	Enhancers	K562	blood
32	chr2:9830400-9831200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:9830400-9832600	Weak transcription	NHLF	lung
34	chr2:9830400-9834200	Enhancers	Fetal Muscle Leg	muscle

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