Variant report

Variant	rs7548010
Chromosome Location	chr1:158118787-158118788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:157921582..157924104-chr1:158117652..158119566,2	K562	blood:
2	chr1:158113593..158115146-chr1:158117653..158120563,2	K562	blood:
3	chr1:158115017..158117999-chr1:158118362..158120421,2	MCF-7	breast:
4	chr1:158118279..158121223-chr1:158124014..158125961,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12042149	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16839865	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1853687	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4656905	1.00[CEU][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66845334	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6690094	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs68106373	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs869536	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7548010	SPRR1A	cis	cerebellum	SCAN
rs7548010	FCER1A	cis	parietal	SCAN
rs7548010	FCRL3	cis	cerebellum	SCAN
rs7548010	C1orf189	cis	parietal	SCAN
rs7548010	LCE3C	cis	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158113200-158119000	Weak transcription	Thymus	Thymus
2	chr1:158114800-158118800	Enhancers	Adipose Nuclei	Adipose
3	chr1:158114800-158119000	Enhancers	Right Atrium	heart
4	chr1:158115000-158118800	Enhancers	K562	blood
5	chr1:158115000-158119000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:158115600-158118800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:158115600-158118800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:158115600-158118800	Weak transcription	A549	lung
9	chr1:158115600-158119200	Weak transcription	Aorta	Aorta
10	chr1:158115800-158118800	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:158116000-158119000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:158116000-158119000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:158116000-158119000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:158116200-158118800	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:158116200-158119000	Weak transcription	NHDF-Ad	bronchial
16	chr1:158116400-158118800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:158116400-158119000	Weak transcription	Pancreas	Pancrea
18	chr1:158116400-158119000	Weak transcription	Spleen	Spleen
19	chr1:158116400-158119000	Weak transcription	HSMM	muscle
20	chr1:158116600-158119000	Weak transcription	Ovary	ovary
21	chr1:158116600-158119200	Weak transcription	Right Ventricle	heart
22	chr1:158116600-158119200	Enhancers	HMEC	breast
23	chr1:158116800-158118800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:158116800-158118800	Weak transcription	Fetal Heart	heart
25	chr1:158116800-158119000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:158116800-158119000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:158116800-158119000	Weak transcription	Placenta	Placenta
28	chr1:158116800-158119000	Weak transcription	Lung	lung
29	chr1:158116800-158119000	Weak transcription	HUVEC	blood vessel
30	chr1:158116800-158119000	Weak transcription	NH-A	brain
31	chr1:158117000-158119000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:158117000-158119200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:158117000-158122000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr1:158117400-158118800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr1:158117400-158118800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr1:158117400-158120600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr1:158117600-158118800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:158117600-158119000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:158117600-158119000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:158117600-158119000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:158117600-158119000	Weak transcription	Left Ventricle	heart
42	chr1:158117800-158118800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:158117800-158118800	Enhancers	Hela-S3	cervix
44	chr1:158118000-158118800	Enhancers	Liver	Liver
45	chr1:158118000-158119000	Enhancers	Primary B cells from peripheral blood	blood
46	chr1:158118000-158119000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:158118000-158119000	Enhancers	Fetal Lung	lung
48	chr1:158118000-158119000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:158118000-158120200	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr1:158118200-158118800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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