Variant report

Variant	rs1648318
Chromosome Location	chr15:45449653-45449654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:45447883..45450231-chr15:45460797..45462764,2	K562	blood:
2	chr15:45443966..45446125-chr15:45449579..45451751,2	K562	blood:
3	chr15:45439255..45441307-chr15:45447015..45449775,2	K562	blood:
4	chr15:45449609..45453236-chr15:45457803..45460650,4	K562	blood:
5	chr15:45439215..45441093-chr15:45448771..45450612,2	MCF-7	breast:
6	chr15:45448307..45450001-chr15:45458633..45460393,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137857	Chromatin interaction
ENSG00000259519	Chromatin interaction
ENSG00000259539	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1620253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648310	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648313	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706807	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706811	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706812	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706815	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1706817	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706827	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1706829	0.90[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs2162246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292468	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2458237	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467819	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467820	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493143	1.00[JPT][hapmap]
rs7169193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv457124	chr15:45381998-45460422	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv569312	chr15:45381998-45460422	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv569313	chr15:45413541-45457458	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv457125	chr15:45420718-45450323	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv569314	chr15:45420718-45450323	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv518213	chr15:45421758-45464768	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv520580	chr15:45438537-45457349	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
13	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45427600-45458600	Weak transcription	Right Atrium	heart
2	chr15:45434800-45457800	Weak transcription	Adipose Nuclei	Adipose
3	chr15:45438800-45455000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:45439000-45454800	Weak transcription	Stomach Mucosa	stomach
5	chr15:45439000-45457800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:45439000-45458000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:45439200-45449800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:45439400-45454800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:45439800-45455000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:45440400-45455000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr15:45440400-45458600	Weak transcription	Aorta	Aorta
12	chr15:45441000-45458000	Weak transcription	Primary T cells from cord blood	blood
13	chr15:45441200-45458000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:45441600-45454800	Weak transcription	Left Ventricle	heart
15	chr15:45441800-45454200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr15:45442000-45455000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr15:45442200-45450000	Weak transcription	Fetal Brain Female	brain
18	chr15:45442200-45450400	Strong transcription	Gastric	stomach
19	chr15:45442200-45455000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:45442200-45457600	Weak transcription	Small Intestine	intestine
21	chr15:45442400-45458000	Weak transcription	Primary B cells from cord blood	blood
22	chr15:45443400-45458000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr15:45444600-45453800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:45444600-45455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:45444800-45454800	Weak transcription	Pancreas	Pancrea
26	chr15:45444800-45454800	Weak transcription	Spleen	Spleen
27	chr15:45444800-45455200	Weak transcription	Ovary	ovary
28	chr15:45444800-45457400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:45445000-45454800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:45445000-45455000	Weak transcription	Fetal Intestine Large	intestine
31	chr15:45445000-45455000	Weak transcription	Fetal Muscle Leg	muscle
32	chr15:45445000-45455000	Weak transcription	Fetal Stomach	stomach
33	chr15:45445000-45455000	Weak transcription	Thymus	Thymus
34	chr15:45445200-45455200	Weak transcription	Right Ventricle	heart
35	chr15:45448000-45450200	Enhancers	Brain Anterior Caudate	brain
36	chr15:45448400-45457800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr15:45448800-45450600	Enhancers	NHDF-Ad	bronchial
38	chr15:45449000-45450200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr15:45449000-45450200	Enhancers	HSMM	muscle
40	chr15:45449000-45450400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:45449000-45450400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:45449000-45450400	Strong transcription	Fetal Intestine Small	intestine
43	chr15:45449000-45450600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:45449000-45450600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:45449000-45450600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr15:45449000-45450600	Enhancers	Brain Angular Gyrus	brain
47	chr15:45449000-45450600	Enhancers	HSMMtube	muscle
48	chr15:45449000-45450800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr15:45449000-45450800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:45449000-45450800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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