Variant report

Variant	rs2932198
Chromosome Location	chr15:57790391-57790392
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	chr15:57785599..57788871-chr15:57789912..57793304,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1280370	0.96[CEU][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs12898542	0.94[EUR][1000 genomes]
rs1290243	0.96[CEU][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs1296301	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs1511949	0.96[CEU][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs2922227	0.90[CEU][hapmap];0.92[EUR][1000 genomes]
rs2942033	0.92[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh 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	19 gene(s)	inside rSNPs	diseases
3	nsv457170	chr15:57644456-57790436	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv569588	chr15:57644456-57790436	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv833022	chr15:57657412-57830112	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1045620	chr15:57680733-57804237	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2763103	chr15:57781577-57799765	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2932198	DMXL2	cis	cerebellum	SCAN
rs2932198	SKIV2L2	trans	cerebellum	SCAN
rs2932198	RSL24D1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57771000-57795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:57778200-57798400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr15:57779000-57794200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr15:57779000-57794400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr15:57779000-57797600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:57779000-57798200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr15:57779400-57794200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:57779400-57800800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr15:57787000-57790400	Enhancers	Fetal Lung	lung
10	chr15:57787000-57791000	Enhancers	Pancreas	Pancrea
11	chr15:57787200-57790600	Enhancers	Stomach Mucosa	stomach
12	chr15:57787200-57802000	Weak transcription	Aorta	Aorta
13	chr15:57787400-57790600	Enhancers	Fetal Intestine Small	intestine
14	chr15:57787400-57791000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:57787600-57793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:57787800-57791400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr15:57787800-57793200	Weak transcription	NHDF-Ad	bronchial
18	chr15:57788200-57790400	Enhancers	Left Ventricle	heart
19	chr15:57788200-57790400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr15:57788200-57790600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:57788200-57793400	Weak transcription	HUVEC	blood vessel
22	chr15:57788200-57797600	Enhancers	Fetal Heart	heart
23	chr15:57788400-57790400	Enhancers	Gastric	stomach
24	chr15:57788400-57791400	Enhancers	Lung	lung
25	chr15:57788400-57793600	Weak transcription	Ovary	ovary
26	chr15:57788600-57790400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr15:57788600-57792800	Weak transcription	Fetal Kidney	kidney
28	chr15:57788800-57790400	Enhancers	Stomach Smooth Muscle	stomach
29	chr15:57789000-57790400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr15:57789200-57793000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr15:57789400-57796200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:57789600-57790400	Enhancers	Fetal Stomach	stomach
33	chr15:57789800-57801600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr15:57790000-57792000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr15:57790000-57792200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr15:57790000-57792200	Weak transcription	Right Atrium	heart
37	chr15:57790000-57792400	Weak transcription	Right Ventricle	heart
38	chr15:57790000-57793400	Weak transcription	Liver	Liver
39	chr15:57790000-57794400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:57790000-57794800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:57790000-57796800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr15:57790000-57797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:57790000-57808600	Weak transcription	Fetal Brain Male	brain
44	chr15:57790200-57790400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr15:57790200-57791200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:57790200-57793400	Weak transcription	Esophagus	oesophagus
47	chr15:57790200-57793400	Weak transcription	Placenta	Placenta
48	chr15:57790200-57793600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:57790200-57793800	Weak transcription	Fetal Intestine Large	intestine
50	chr15:57790200-57794200	Weak transcription	Fetal Muscle Leg	muscle

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