Variant report

Variant	rs11071335
Chromosome Location	chr15:57888589-57888590
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	chr15:57885653..57889310-chr15:57906324..57909030,3	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1009319	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10152310	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10152878	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851618	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851619	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852838	1.00[ASN][1000 genomes]
rs11853270	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11856824	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12323998	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324010	1.00[ASN][1000 genomes]
rs12324289	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324526	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs12442978	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12442987	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs12443389	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12443485	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13380406	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13380418	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1346125	1.00[ASN][1000 genomes]
rs16977630	1.00[CHB][hapmap]
rs17239937	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17820515	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172608	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28557258	1.00[ASN][1000 genomes]
rs4774273	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774274	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774281	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4774282	1.00[ASN][1000 genomes]
rs4774971	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774974	1.00[ASN][1000 genomes]
rs57589057	1.00[ASN][1000 genomes]
rs58017146	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58919063	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61600143	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178159	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743512	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743516	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72745565	1.00[ASN][1000 genomes]
rs7359330	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs74016366	1.00[ASN][1000 genomes]
rs9796502	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv904255	chr15:57790436-57907574	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11071335	DMXL2	cis	cerebellum	SCAN
rs11071335	PAPD7	trans	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57885000-57888800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr15:57885200-57888800	Weak transcription	HMEC	breast
3	chr15:57885200-57889000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:57885200-57889000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:57885200-57889000	Weak transcription	NHEK	skin
6	chr15:57885200-57891600	Enhancers	Fetal Intestine Large	intestine
7	chr15:57885200-57899000	Weak transcription	Hela-S3	cervix
8	chr15:57885200-57899400	Weak transcription	HUVEC	blood vessel
9	chr15:57885200-57899800	Weak transcription	Placenta	Placenta
10	chr15:57885400-57889600	Weak transcription	Fetal Lung	lung
11	chr15:57885400-57891000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:57885400-57894600	Enhancers	Pancreas	Pancrea
13	chr15:57885600-57888800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:57885600-57891400	Enhancers	Stomach Mucosa	stomach
15	chr15:57885800-57889800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:57886000-57888600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr15:57886000-57892000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr15:57886600-57888800	Enhancers	Fetal Intestine Small	intestine
19	chr15:57886600-57890000	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr15:57886600-57896600	Enhancers	Adipose Nuclei	Adipose
21	chr15:57886800-57891600	Enhancers	Duodenum Mucosa	Duodenum
22	chr15:57886800-57891800	Enhancers	Colon Smooth Muscle	Colon
23	chr15:57887000-57889200	Enhancers	Stomach Smooth Muscle	stomach
24	chr15:57887000-57890400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr15:57887200-57888600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr15:57887200-57890000	Enhancers	Ovary	ovary
27	chr15:57887200-57891000	Enhancers	Right Atrium	heart
28	chr15:57887400-57888800	Enhancers	Rectal Smooth Muscle	rectum
29	chr15:57887400-57889000	Weak transcription	Left Ventricle	heart
30	chr15:57887800-57889000	Active TSS	Esophagus	oesophagus
31	chr15:57887800-57899200	Weak transcription	Colonic Mucosa	Colon
32	chr15:57887800-57899200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr15:57888000-57889600	Flanking Active TSS	Fetal Heart	heart
34	chr15:57888000-57890600	Enhancers	Spleen	Spleen
35	chr15:57888000-57891000	Enhancers	Right Ventricle	heart
36	chr15:57888200-57889600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:57888200-57890800	Weak transcription	Psoas Muscle	Psoas
38	chr15:57888200-57890800	Weak transcription	Small Intestine	intestine
39	chr15:57888200-57891600	Weak transcription	Fetal Muscle Leg	muscle
40	chr15:57888400-57888800	Weak transcription	Lung	lung
41	chr15:57888400-57889800	Enhancers	Gastric	stomach

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