Variant report

Variant	rs869536
Chromosome Location	chr1:158115757-158115758
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	chr1:158115017..158117999-chr1:158118362..158120421,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12042149	0.90[ASN][1000 genomes]
rs12097784	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1324654	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16839865	0.92[ASN][1000 genomes]
rs1853687	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4656904	0.94[JPT][hapmap]
rs4656905	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66845334	0.91[ASN][1000 genomes]
rs6690094	0.90[ASN][1000 genomes]
rs68106373	0.82[EUR][1000 genomes]
rs7548010	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs869536	SPRR1A	cis	cerebellum	SCAN
rs869536	TTC24	cis	cerebellum	SCAN
rs869536	AIM2	cis	cerebellum	SCAN
rs869536	C1orf189	cis	parietal	SCAN
rs869536	SPRR3	cis	parietal	SCAN
rs869536	SNORA42	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158111000-158115800	Weak transcription	HSMM	muscle
2	chr1:158111000-158118600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:158113200-158117600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:158113200-158119000	Weak transcription	Thymus	Thymus
5	chr1:158113600-158116000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:158113800-158117000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:158114000-158116800	Enhancers	Fetal Heart	heart
8	chr1:158114200-158118400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:158114600-158115800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:158114600-158116400	Enhancers	Spleen	Spleen
11	chr1:158114600-158117000	Enhancers	Left Ventricle	heart
12	chr1:158114800-158115800	Enhancers	NHEK	skin
13	chr1:158114800-158116000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:158114800-158116000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:158114800-158116200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:158114800-158116200	Enhancers	Fetal Lung	lung
17	chr1:158114800-158116200	Enhancers	Fetal Muscle Leg	muscle
18	chr1:158114800-158116200	Enhancers	NHDF-Ad	bronchial
19	chr1:158114800-158116400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:158114800-158116600	Enhancers	Ovary	ovary
21	chr1:158114800-158116600	Enhancers	Right Ventricle	heart
22	chr1:158114800-158117600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:158114800-158117800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:158114800-158118800	Enhancers	Adipose Nuclei	Adipose
25	chr1:158114800-158119000	Enhancers	Right Atrium	heart
26	chr1:158115000-158115800	Enhancers	Colon Smooth Muscle	Colon
27	chr1:158115000-158116000	Enhancers	Rectal Smooth Muscle	rectum
28	chr1:158115000-158117400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:158115000-158118800	Enhancers	K562	blood
30	chr1:158115000-158119000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:158115200-158116200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:158115200-158116600	Flanking Active TSS	HMEC	breast
33	chr1:158115200-158116800	Enhancers	Placenta	Placenta
34	chr1:158115200-158116800	Flanking Active TSS	Hela-S3	cervix
35	chr1:158115400-158115800	Weak transcription	Brain Substantia Nigra	brain
36	chr1:158115400-158116200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:158115400-158117000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:158115600-158116400	Enhancers	Pancreas	Pancrea
39	chr1:158115600-158116800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:158115600-158118800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:158115600-158118800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:158115600-158118800	Weak transcription	A549	lung
43	chr1:158115600-158119200	Weak transcription	Aorta	Aorta

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