Variant report

Variant	rs325399
Chromosome Location	chr15:100254444-100254445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:100250161..100251690-chr15:100252996..100255085,2	K562	blood:
2	chr15:100249762..100251661-chr15:100253585..100255410,2	K562	blood:
3	chr15:100251559..100254506-chr15:100254919..100256513,2	MCF-7	breast:
4	chr15:100247213..100249293-chr15:100253745..100255884,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1036320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1108205	1.00[EUR][1000 genomes]
rs11247122	1.00[EUR][1000 genomes]
rs2570800	1.00[EUR][1000 genomes]
rs2570802	1.00[EUR][1000 genomes]
rs2570803	1.00[EUR][1000 genomes]
rs2570809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2570814	1.00[EUR][1000 genomes]
rs2570820	1.00[EUR][1000 genomes]
rs2570824	1.00[EUR][1000 genomes]
rs2570924	1.00[EUR][1000 genomes]
rs2570925	1.00[EUR][1000 genomes]
rs2570926	1.00[EUR][1000 genomes]
rs2570931	1.00[EUR][1000 genomes]
rs2570932	1.00[EUR][1000 genomes]
rs2570933	1.00[EUR][1000 genomes]
rs2570935	1.00[EUR][1000 genomes]
rs2570938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2581463	1.00[EUR][1000 genomes]
rs2581473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661496	1.00[EUR][1000 genomes]
rs28747079	1.00[EUR][1000 genomes]
rs28816423	1.00[EUR][1000 genomes]
rs325385	1.00[EUR][1000 genomes]
rs325388	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs325401	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs325407	1.00[EUR][1000 genomes]
rs7163764	1.00[EUR][1000 genomes]
rs7170276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7182926	1.00[EUR][1000 genomes]
rs8027544	1.00[EUR][1000 genomes]
rs8040915	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' 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	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1038005	chr15:100170414-100633714	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv542522	chr15:100170414-100633714	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv904559	chr15:100174907-100255046	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv904560	chr15:100196657-100339331	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv904561	chr15:100204918-100486828	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv428313	chr15:100236203-100757039	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv904563	chr15:100239546-100274747	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	nsv570730	chr15:100240910-100700520	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv1045838	chr15:100243067-101032218	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv904564	chr15:100245296-100723798	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	nsv932678	chr15:100250311-101012358	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100233800-100256600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:100244600-100254800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:100244600-100272400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:100245000-100258200	Weak transcription	Fetal Kidney	kidney
5	chr15:100245600-100256200	Strong transcription	Dnd41	blood
6	chr15:100245600-100258000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr15:100246200-100257000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr15:100246400-100256400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr15:100246400-100257400	Strong transcription	Primary B cells from cord blood	blood
10	chr15:100246600-100257400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr15:100246800-100259000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:100247000-100258600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:100247200-100256800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr15:100248400-100256400	Strong transcription	GM12878-XiMat	blood
15	chr15:100248400-100259600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:100248400-100260000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:100248800-100258000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr15:100249000-100259600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr15:100249200-100257200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:100249200-100257200	Strong transcription	Thymus	Thymus
21	chr15:100249200-100259600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr15:100249400-100257000	Weak transcription	Fetal Brain Male	brain
23	chr15:100249400-100258600	Strong transcription	Fetal Intestine Large	intestine
24	chr15:100249400-100260200	Weak transcription	A549	lung
25	chr15:100249600-100257200	Strong transcription	Liver	Liver
26	chr15:100249600-100258600	Strong transcription	Primary T cells from cord blood	blood
27	chr15:100249600-100272800	Weak transcription	Small Intestine	intestine
28	chr15:100249800-100272200	Weak transcription	HUVEC	blood vessel
29	chr15:100250000-100255400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:100250000-100255400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr15:100250200-100256400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:100250400-100254600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:100250600-100256000	Strong transcription	NH-A	brain
34	chr15:100250600-100256400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr15:100250800-100255800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:100250800-100256200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr15:100250800-100256200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr15:100250800-100256800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr15:100250800-100257000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:100250800-100257000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:100250800-100258600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:100251000-100256000	Strong transcription	Hela-S3	cervix
43	chr15:100251000-100256200	Strong transcription	HSMMtube	muscle
44	chr15:100251000-100256400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:100251800-100261600	Weak transcription	NHEK	skin
46	chr15:100251800-100271800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr15:100252200-100271400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:100252400-100255200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr15:100252400-100256600	Weak transcription	Right Atrium	heart
50	chr15:100252600-100256400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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