Variant report

Variant	rs56304405
Chromosome Location	chr15:45904537-45904538
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	chr15:45879090..45880889-chr15:45903152..45905270,2	K562	blood:
2	chr15:45750222..45752081-chr15:45903810..45905357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104164	Chromatin interaction
ENSG00000260170	Chromatin interaction
ENSG00000259354	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs16945097	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17627219	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1966763	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3649	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55755923	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55806911	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913172	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55997350	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56081351	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56179992	0.86[ASN][1000 genomes]
rs56190351	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56259807	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56375332	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56395216	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57291883	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59593563	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60351453	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60378269	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60992352	0.86[ASN][1000 genomes]
rs61209164	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68044128	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164956	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7165827	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7178395	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7178879	0.98[ASN][1000 genomes]
rs7179265	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7179903	0.98[ASN][1000 genomes]
rs7181436	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711301	0.86[ASN][1000 genomes]
rs72713103	0.86[ASN][1000 genomes]
rs72713104	0.86[ASN][1000 genomes]
rs72713105	0.86[ASN][1000 genomes]
rs72713106	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713107	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713168	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713169	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713171	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713172	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713175	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713177	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713178	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72713180	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72713182	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713185	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713191	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713197	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72713199	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72713201	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72715003	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72715005	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72715008	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72715010	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72715014	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72715019	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72715020	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72715077	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8025407	0.86[ASN][1000 genomes]
rs8041902	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv904190	chr15:45892672-45960897	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	n/a
4	nsv904191	chr15:45902779-46381874	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45881000-45908600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:45881000-45908800	Weak transcription	Esophagus	oesophagus
3	chr15:45881200-45909000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:45881800-45904800	Weak transcription	NHEK	skin
5	chr15:45882000-45908600	Weak transcription	NHLF	lung
6	chr15:45888800-45904800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:45889600-45906600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:45889800-45904800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:45889800-45905400	Weak transcription	Fetal Intestine Small	intestine
10	chr15:45889800-45908800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:45890200-45908800	Weak transcription	A549	lung
12	chr15:45896800-45912400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:45898400-45911000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:45898800-45904600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:45898800-45906600	Weak transcription	Colon Smooth Muscle	Colon
16	chr15:45898800-45906600	Weak transcription	Pancreas	Pancrea
17	chr15:45898800-45909200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:45898800-45911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr15:45899000-45904800	Weak transcription	NH-A	brain
20	chr15:45899000-45906600	Weak transcription	HepG2	liver
21	chr15:45899400-45904800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr15:45899400-45904800	Weak transcription	HSMM	muscle
23	chr15:45899400-45904800	Weak transcription	NHDF-Ad	bronchial
24	chr15:45899400-45906800	Weak transcription	Brain Hippocampus Middle	brain
25	chr15:45899400-45909000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:45899600-45904600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr15:45899600-45904800	Weak transcription	HUVEC	blood vessel
28	chr15:45899600-45904800	Weak transcription	Osteobl	bone
29	chr15:45899600-45906600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr15:45899600-45906800	Weak transcription	Brain Anterior Caudate	brain
31	chr15:45899600-45912400	Weak transcription	HSMMtube	muscle
32	chr15:45899800-45905000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:45899800-45906600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:45900800-45904800	Weak transcription	GM12878-XiMat	blood
35	chr15:45900800-45908800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr15:45900800-45908800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr15:45900800-45911800	Weak transcription	Primary B cells from cord blood	blood
38	chr15:45901000-45905000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:45901000-45905000	Weak transcription	Hela-S3	cervix
40	chr15:45901000-45909000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:45901600-45906600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr15:45901600-45908800	Weak transcription	HMEC	breast
43	chr15:45901600-45909400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr15:45901800-45908800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:45902000-45904600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:45902000-45905000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:45902000-45905200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:45902000-45905200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr15:45902200-45905000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:45902200-45906400	Weak transcription	Primary B cells from peripheral blood	blood

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