Variant report

Variant	rs975721
Chromosome Location	chr15:92512974-92512975
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	chr15:92509487..92513090-chr15:92516971..92519490,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12708589	0.82[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes]
rs7182905	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8026114	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9806203	0.85[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.84[JPT][hapmap]

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	nsv1048635	chr15:92073294-92557339	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
2	nsv870094	chr15:92367354-92631647	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534110	chr15:92397220-92592961	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs975721	KLK4	trans	lymphoblastoid	RTeQTL
rs975721	MESP2	cis	parietal	SCAN
rs975721	SEMA4B	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92498200-92555000	Weak transcription	Gastric	stomach
2	chr15:92506000-92513600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr15:92506000-92517600	Weak transcription	Colonic Mucosa	Colon
4	chr15:92507600-92514400	Enhancers	Fetal Heart	heart
5	chr15:92507600-92516400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:92507800-92513200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr15:92508000-92514000	Enhancers	Brain Angular Gyrus	brain
8	chr15:92508000-92515000	Enhancers	Brain Cingulate Gyrus	brain
9	chr15:92508600-92514200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:92508600-92517600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:92508800-92514400	Enhancers	Ovary	ovary
12	chr15:92508800-92517600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr15:92509000-92518400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:92509200-92513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:92509600-92513000	Weak transcription	NHLF	lung
16	chr15:92509600-92515400	Enhancers	Brain Substantia Nigra	brain
17	chr15:92509600-92519200	Enhancers	Brain Hippocampus Middle	brain
18	chr15:92509800-92513000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:92509800-92513000	Weak transcription	HSMM	muscle
20	chr15:92509800-92515200	Enhancers	Brain Anterior Caudate	brain
21	chr15:92510000-92513200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:92510000-92514200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:92510200-92513000	Weak transcription	HSMMtube	muscle
24	chr15:92510200-92513600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:92510800-92514400	Enhancers	Left Ventricle	heart
26	chr15:92511000-92514000	Enhancers	Right Atrium	heart
27	chr15:92511200-92514000	Enhancers	Aorta	Aorta
28	chr15:92511200-92514200	Enhancers	Lung	lung
29	chr15:92511600-92514200	Enhancers	Right Ventricle	heart
30	chr15:92511800-92513000	Weak transcription	Hela-S3	cervix
31	chr15:92511800-92513000	Weak transcription	Osteobl	bone
32	chr15:92511800-92513200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr15:92511800-92513800	Enhancers	Fetal Lung	lung
34	chr15:92511800-92514000	Enhancers	Fetal Brain Male	brain
35	chr15:92511800-92514200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr15:92512000-92513000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:92512000-92513000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:92512000-92513000	Weak transcription	HMEC	breast
39	chr15:92512000-92513200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:92512000-92513200	Weak transcription	NHEK	skin
41	chr15:92512000-92516600	Weak transcription	A549	lung
42	chr15:92512200-92513000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:92512200-92513000	Weak transcription	Esophagus	oesophagus
44	chr15:92512200-92513200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:92512200-92517600	Weak transcription	Pancreas	Pancrea
46	chr15:92512400-92517200	Weak transcription	Spleen	Spleen
47	chr15:92512800-92513200	Enhancers	Small Intestine	intestine
48	chr15:92512800-92513600	Enhancers	Fetal Stomach	stomach
49	chr15:92512800-92513800	Enhancers	Adipose Nuclei	Adipose
50	chr15:92512800-92513800	Enhancers	Fetal Muscle Trunk	muscle

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