Variant report

Variant	rs1693509
Chromosome Location	chr15:52817557-52817558
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52815685..52818826-chr15:52821088..52823624,4	K562	blood:
2	chr15:52816804..52818865-chr15:52821369..52824453,4	K562	blood:
3	chr15:52812726..52818760-chr15:52818912..52822448,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197535	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

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]
rs1724602	0.81[MKK][hapmap]
rs1724605	0.87[AMR][1000 genomes]
rs1724607	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]
rs1724619	0.96[YRI][hapmap]
rs1724620	0.92[YRI][hapmap]
rs2414157	0.84[YRI][hapmap]
rs2453987	1.00[MEX][hapmap];0.88[MKK][hapmap];0.81[YRI][hapmap]
rs2462845	0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][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:64 , 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	chr15:52807800-52819800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:52811600-52817600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr15:52811600-52819400	Weak transcription	Primary B cells from cord blood	blood
8	chr15:52812400-52819600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr15:52812600-52820200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:52812800-52819800	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:52812800-52819800	Weak transcription	HSMMtube	muscle
12	chr15:52812800-52820200	Weak transcription	Left Ventricle	heart
13	chr15:52812800-52820200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr15:52812800-52820200	Weak transcription	Small Intestine	intestine
15	chr15:52813000-52819400	Weak transcription	Fetal Heart	heart
16	chr15:52813000-52819600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:52813000-52819600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr15:52813800-52819600	Weak transcription	GM12878-XiMat	blood
19	chr15:52813800-52819800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:52814000-52818400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:52814200-52817600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr15:52814200-52818200	Enhancers	HMEC	breast
23	chr15:52814400-52819600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:52814800-52817800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr15:52814800-52819400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr15:52815600-52820000	Weak transcription	Right Atrium	heart
27	chr15:52815800-52818000	Weak transcription	Brain Angular Gyrus	brain
28	chr15:52815800-52820000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr15:52816000-52818200	Enhancers	NHEK	skin
30	chr15:52816000-52819800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:52816000-52819800	Weak transcription	Brain Substantia Nigra	brain
32	chr15:52816000-52820000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:52816000-52820000	Weak transcription	HSMM	muscle
34	chr15:52816200-52817600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:52816200-52817600	Weak transcription	HUVEC	blood vessel
36	chr15:52816200-52818000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:52816200-52819200	Weak transcription	Fetal Brain Male	brain
38	chr15:52816200-52819400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr15:52816200-52819400	Weak transcription	A549	lung
40	chr15:52816200-52819600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:52816200-52819600	Weak transcription	Adipose Nuclei	Adipose
42	chr15:52816200-52819600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr15:52816200-52819800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:52816200-52819800	Weak transcription	NH-A	brain
45	chr15:52816200-52820000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:52816200-52820000	Weak transcription	Osteobl	bone
47	chr15:52816400-52818200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr15:52816400-52818800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:52816400-52819200	Weak transcription	Fetal Brain Female	brain
50	chr15:52816400-52819200	Weak transcription	Monocytes-CD14+_RO01746	blood

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