Variant report

Variant	rs476342
Chromosome Location	chr15:43473907-43473908
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43471322..43474436-chr15:43477554..43479456,3	K562	blood:

Variant related genes	Relation type
ENSG00000166946	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10851414	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11070389	0.83[ASN][1000 genomes]
rs11070390	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11632120	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12442190	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12913112	0.85[ASN][1000 genomes]
rs12913134	0.85[ASN][1000 genomes]
rs1474200	0.85[ASN][1000 genomes]
rs2139651	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2139652	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs489964	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs502157	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs530118	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs531598	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs574531	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs574856	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7165861	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7166467	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9635327	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43427600-43475000	Weak transcription	Stomach Mucosa	stomach
2	chr15:43440800-43476800	Weak transcription	Fetal Brain Male	brain
3	chr15:43441800-43477200	Weak transcription	HSMMtube	muscle
4	chr15:43442000-43476800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:43444600-43477200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:43444800-43477000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:43444800-43477000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr15:43446000-43476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:43447600-43477600	Weak transcription	Small Intestine	intestine
10	chr15:43448000-43477400	Weak transcription	Ovary	ovary
11	chr15:43448200-43477200	Weak transcription	Brain Substantia Nigra	brain
12	chr15:43449600-43477000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr15:43461000-43475400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr15:43461200-43476600	Weak transcription	Fetal Thymus	thymus
15	chr15:43461200-43476800	Weak transcription	Gastric	stomach
16	chr15:43461200-43477000	Weak transcription	A549	lung
17	chr15:43461400-43476800	Weak transcription	Hela-S3	cervix
18	chr15:43461400-43477200	Weak transcription	Right Ventricle	heart
19	chr15:43461600-43477000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:43461600-43477000	Weak transcription	Spleen	Spleen
21	chr15:43461600-43477400	Weak transcription	NHLF	lung
22	chr15:43461800-43476800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:43462400-43477200	Weak transcription	Brain Angular Gyrus	brain
24	chr15:43462600-43477000	Weak transcription	Fetal Heart	heart
25	chr15:43462600-43477200	Weak transcription	HMEC	breast
26	chr15:43463000-43477000	Weak transcription	HUVEC	blood vessel
27	chr15:43463000-43477200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:43463400-43477200	Weak transcription	Osteobl	bone
29	chr15:43463600-43476400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr15:43463600-43477000	Weak transcription	Brain Hippocampus Middle	brain
31	chr15:43466400-43477200	Weak transcription	Psoas Muscle	Psoas
32	chr15:43467000-43477200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:43467000-43477600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:43467800-43475200	Weak transcription	K562	blood
35	chr15:43467800-43475600	Weak transcription	Fetal Brain Female	brain
36	chr15:43467800-43477000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr15:43467800-43477200	Weak transcription	Colon Smooth Muscle	Colon
38	chr15:43467800-43477200	Weak transcription	HSMM	muscle
39	chr15:43468000-43476600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr15:43468000-43476600	Weak transcription	Fetal Muscle Leg	muscle
41	chr15:43468000-43477000	Weak transcription	Placenta	Placenta
42	chr15:43468000-43477200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:43468000-43477200	Weak transcription	Fetal Kidney	kidney
44	chr15:43468200-43475200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:43468200-43476600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr15:43468200-43476800	Weak transcription	Brain Anterior Caudate	brain
47	chr15:43468200-43477000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr15:43468200-43477200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr15:43468200-43477200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:43468200-43477200	Weak transcription	Brain Germinal Matrix	brain

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