Variant report

Variant	rs1724607
Chromosome Location	chr15:52815388-52815389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52814093..52816387-chr15:52859030..52861250,2	K562	blood:
2	chr15:52812726..52818760-chr15:52818912..52822448,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197535	Chromatin interaction
ENSG00000128989	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10851519	0.90[MKK][hapmap];0.81[YRI][hapmap]
rs1612233	0.81[YRI][hapmap]
rs1693490	1.00[MEX][hapmap];0.88[MKK][hapmap]
rs1693504	0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1693509	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs1724602	0.81[MKK][hapmap]
rs1724619	0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1724620	0.92[YRI][hapmap];0.87[AMR][1000 genomes]
rs2414157	0.84[YRI][hapmap]
rs2453987	1.00[MEX][hapmap];0.88[MKK][hapmap];0.81[YRI][hapmap]
rs2462845	0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2693464	0.83[YRI][hapmap]

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	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv1832020	chr15:52702400-52901914	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52796800-52819400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:52796800-52820000	Weak transcription	Primary T cells from cord blood	blood
3	chr15:52797600-52819800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr15:52807400-52820200	Weak transcription	Lung	lung
5	chr15:52807800-52816800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr15:52807800-52819800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:52809000-52815400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr15:52811400-52816400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr15:52811600-52817400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:52811600-52817600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:52811600-52819400	Weak transcription	Primary B cells from cord blood	blood
12	chr15:52812400-52816000	Enhancers	Brain Hippocampus Middle	brain
13	chr15:52812400-52819600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr15:52812600-52820200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:52812800-52815400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:52812800-52815400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:52812800-52816600	Weak transcription	Psoas Muscle	Psoas
18	chr15:52812800-52819800	Weak transcription	Colon Smooth Muscle	Colon
19	chr15:52812800-52819800	Weak transcription	HSMMtube	muscle
20	chr15:52812800-52820200	Weak transcription	Left Ventricle	heart
21	chr15:52812800-52820200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:52812800-52820200	Weak transcription	Small Intestine	intestine
23	chr15:52813000-52815600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:52813000-52819400	Weak transcription	Fetal Heart	heart
25	chr15:52813000-52819600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr15:52813000-52819600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:52813400-52816200	Enhancers	Adipose Nuclei	Adipose
28	chr15:52813600-52815800	Enhancers	Brain Angular Gyrus	brain
29	chr15:52813600-52817000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:52813800-52815600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:52813800-52816400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:52813800-52819600	Weak transcription	GM12878-XiMat	blood
33	chr15:52813800-52819800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr15:52814000-52816200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:52814000-52816200	Enhancers	Brain Cingulate Gyrus	brain
36	chr15:52814000-52818400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:52814200-52815600	Enhancers	Right Atrium	heart
38	chr15:52814200-52816000	Enhancers	Brain Substantia Nigra	brain
39	chr15:52814200-52816200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr15:52814200-52817600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:52814200-52818200	Enhancers	HMEC	breast
42	chr15:52814400-52819600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:52814600-52815800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr15:52814600-52816200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr15:52814600-52816200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:52814800-52815400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:52814800-52816200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr15:52814800-52816200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr15:52814800-52816200	Enhancers	NH-A	brain
50	chr15:52814800-52816400	Enhancers	Cortex derived primary cultured neurospheres	brain

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