Variant report

Variant	rs325405
Chromosome Location	chr15:100249670-100249671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:100248600..100250115-chr15:100255217..100258157,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214397	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11247116	0.82[ASN][1000 genomes]
rs12324876	0.83[ASN][1000 genomes]
rs12438623	0.81[EUR][1000 genomes]
rs12442313	0.80[ASN][1000 genomes]
rs12591308	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2012129	0.82[ASN][1000 genomes]
rs4564541	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62040141	0.84[ASN][1000 genomes]
rs7162940	0.82[ASN][1000 genomes]
rs7172418	0.85[ASN][1000 genomes]
rs7181542	0.87[ASN][1000 genomes]
rs8037206	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100159000-100253000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:100213200-100250800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:100231000-100250600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:100233400-100250600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:100233400-100250800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr15:100233400-100251200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:100233800-100250800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:100233800-100256600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:100235200-100250800	Weak transcription	Brain Germinal Matrix	brain
10	chr15:100236600-100250800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:100237000-100250000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:100237200-100250200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:100244400-100250200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:100244400-100250800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:100244600-100250000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:100244600-100250600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:100244600-100250800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr15:100244600-100250800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:100244600-100250800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:100244600-100252800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr15:100244600-100254800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr15:100244600-100272400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr15:100244800-100250800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:100245000-100251600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr15:100245000-100258200	Weak transcription	Fetal Kidney	kidney
26	chr15:100245600-100256200	Strong transcription	Dnd41	blood
27	chr15:100245600-100258000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr15:100246200-100257000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr15:100246400-100253600	Strong transcription	Primary hematopoietic stem cells	blood
30	chr15:100246400-100256400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr15:100246400-100257400	Strong transcription	Primary B cells from cord blood	blood
32	chr15:100246600-100257400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr15:100246800-100259000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:100247000-100249800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:100247000-100252800	Genic enhancers	Fetal Muscle Leg	muscle
36	chr15:100247000-100258600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:100247200-100249800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:100247200-100250000	Enhancers	Brain Hippocampus Middle	brain
39	chr15:100247200-100256800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr15:100247400-100249800	Enhancers	Adipose Nuclei	Adipose
41	chr15:100247400-100249800	Enhancers	Brain Cingulate Gyrus	brain
42	chr15:100247400-100249800	Enhancers	Right Atrium	heart
43	chr15:100247400-100250200	Enhancers	Brain Substantia Nigra	brain
44	chr15:100247800-100249800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr15:100247800-100249800	Enhancers	Brain Angular Gyrus	brain
46	chr15:100247800-100250800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr15:100248000-100249800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:100248000-100250200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr15:100248000-100250800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:100248200-100249800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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