Variant report

Variant	rs7217516
Chromosome Location	chr17:63290364-63290365
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:63284949..63286460-chr17:63288747..63290967,2	MCF-7	breast:
2	chr17:63288514..63291502-chr17:63628041..63630216,2	MCF-7	breast:
3	chr17:63289912..63290924-chr17:63552090..63553613,5	MCF-7	breast:
4	chr17:63289890..63290930-chr17:63452117..63452880,3	MCF-7	breast:
5	chr17:63289929..63290716-chr17:64161400..64162170,3	MCF-7	breast:
6	chr17:63289969..63290949-chr17:63451705..63452445,5	MCF-7	breast:
7	chr17:63290174..63290693-chr17:63308121..63308712,2	MCF-7	breast:
8	chr17:63290099..63290904-chr17:63414701..63415333,3	MCF-7	breast:
9	chr17:63290008..63290664-chr17:63559222..63559801,2	MCF-7	breast:
10	chr17:63274214..63274924-chr17:63290058..63290997,4	MCF-7	breast:
11	chr17:63290259..63290948-chr17:64161433..64162054,3	K562	blood:
12	chr17:63290061..63290785-chr17:63983814..63984831,4	MCF-7	breast:
13	chr17:63289735..63290893-chr17:63552046..63553189,8	MCF-7	breast:
14	chr17:63290039..63290939-chr17:63983872..63984697,8	MCF-7	breast:

No data

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12051686	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12941985	0.84[AMR][1000 genomes]
rs1962808	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2159539	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2869590	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2869822	0.86[EUR][1000 genomes]
rs2869823	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2869824	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2869825	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2904204	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4547370	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4790949	0.83[ASN][1000 genomes]
rs4790950	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4790952	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56007713	0.85[ASN][1000 genomes]
rs56299799	0.98[ASN][1000 genomes]
rs6504291	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs718597	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7206992	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7208337	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7216343	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7224599	0.86[EUR][1000 genomes]
rs7225676	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8067633	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8075545	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8081577	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs875647	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9896306	0.86[EUR][1000 genomes]
rs9896684	0.86[EUR][1000 genomes]
rs9908306	0.91[ASN][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	nsv482610	chr17:63214370-63372334	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7217516	YPEL2	cis	cerebellum	SCAN
rs7217516	HEATR6	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63287000-63290600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr17:63287200-63290600	Weak transcription	Gastric	stomach
3	chr17:63287200-63290600	Weak transcription	Spleen	Spleen
4	chr17:63287200-63294200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:63287200-63297400	Weak transcription	Right Atrium	heart
6	chr17:63288400-63290400	Enhancers	Stomach Mucosa	stomach
7	chr17:63289600-63290800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:63289600-63291200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr17:63289800-63290800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr17:63289800-63290800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr17:63289800-63290800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:63289800-63291000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr17:63290000-63290400	Flanking Active TSS	Fetal Brain Female	brain
14	chr17:63290000-63290400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:63290000-63290800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr17:63290000-63290800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr17:63290000-63290800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr17:63290000-63290800	Enhancers	Brain Anterior Caudate	brain
19	chr17:63290000-63290800	Enhancers	Brain Hippocampus Middle	brain
20	chr17:63290000-63290800	Enhancers	Brain Substantia Nigra	brain
21	chr17:63290000-63290800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr17:63290000-63291000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr17:63290000-63291000	Enhancers	Colonic Mucosa	Colon
24	chr17:63290000-63291000	Enhancers	Fetal Stomach	stomach
25	chr17:63290200-63290400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:63290200-63290400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:63290200-63290400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:63290200-63290400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr17:63290200-63290400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr17:63290200-63290600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:63290200-63290600	Enhancers	Colon Smooth Muscle	Colon
32	chr17:63290200-63290600	Enhancers	Fetal Intestine Large	intestine
33	chr17:63290200-63290600	Enhancers	Rectal Smooth Muscle	rectum
34	chr17:63290200-63290600	Enhancers	A549	lung
35	chr17:63290200-63290800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:63290200-63290800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr17:63290200-63290800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:63290200-63290800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr17:63290200-63290800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr17:63290200-63290800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr17:63290200-63290800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr17:63290200-63290800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr17:63290200-63290800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr17:63290200-63290800	Enhancers	Adipose Nuclei	Adipose
45	chr17:63290200-63290800	Enhancers	Brain Cingulate Gyrus	brain
46	chr17:63290200-63290800	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr17:63290200-63290800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr17:63290200-63290800	Enhancers	Duodenum Mucosa	Duodenum
49	chr17:63290200-63290800	Enhancers	Fetal Lung	lung
50	chr17:63290200-63290800	Enhancers	Fetal Thymus	thymus

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