Variant report

Variant	rs7517569
Chromosome Location	chr1:221208709-221208710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221207871..221209388-chr1:221212017..221214395,2	K562	blood:
2	chr1:221199957..221201906-chr1:221208542..221210480,2	K562	blood:
3	chr1:221206891..221209898-chr1:221213068..221215550,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10458466	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10458469	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10746405	0.90[EUR][1000 genomes]
rs10863575	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863576	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863577	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118634	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11118635	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4391670	0.90[EUR][1000 genomes]
rs4625285	0.80[EUR][1000 genomes]
rs4846682	0.90[EUR][1000 genomes]
rs4846683	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4846684	0.89[EUR][1000 genomes]
rs4846685	0.90[EUR][1000 genomes]
rs6687526	0.90[EUR][1000 genomes]
rs6687905	0.90[EUR][1000 genomes]
rs7542237	0.90[EUR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7517569	KCTD3	cis	parietal	SCAN
rs7517569	MOSC1	cis	cerebellum	SCAN
rs7517569	LYPLAL1	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221199800-221209200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:221203400-221209000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:221204600-221210000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:221205000-221209800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:221205800-221209000	Enhancers	HUVEC	blood vessel
6	chr1:221205800-221210000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:221206200-221209600	Enhancers	Colon Smooth Muscle	Colon
8	chr1:221206200-221210000	Enhancers	K562	blood
9	chr1:221206600-221209600	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:221206800-221208800	Weak transcription	Osteobl	bone
11	chr1:221207000-221209000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:221207200-221208800	Weak transcription	HSMM	muscle
13	chr1:221207400-221208800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:221207400-221208800	Weak transcription	NHLF	lung
15	chr1:221207400-221212800	Weak transcription	HSMMtube	muscle
16	chr1:221207400-221213000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:221207600-221210000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:221207800-221208800	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:221208000-221209600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:221208400-221208800	Enhancers	Left Ventricle	heart
21	chr1:221208400-221209000	Enhancers	Psoas Muscle	Psoas
22	chr1:221208400-221209000	Flanking Active TSS	Hela-S3	cervix
23	chr1:221208400-221209000	Enhancers	HMEC	breast
24	chr1:221208400-221209200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:221208400-221209600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:221208400-221209600	Enhancers	Rectal Smooth Muscle	rectum
27	chr1:221208400-221210000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:221208600-221208800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:221208600-221209000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:221208600-221209000	Enhancers	NH-A	brain
31	chr1:221208600-221209200	Enhancers	NHDF-Ad	bronchial
32	chr1:221208600-221209400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr1:221208600-221209600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:221208600-221209800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:221208600-221210000	Enhancers	Muscle Satellite Cultured Cells	--

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