Variant report

Variant	rs10504263
Chromosome Location	chr8:59755177-59755178
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	chr8:59753038..59755969-chr8:59757375..59759346,3	K562	blood:
2	chr8:59753701..59756269-chr8:59757375..59760219,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10504265	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1075418	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12541161	0.82[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12542489	1.00[CHB][hapmap]
rs1349115	0.82[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs1375185	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1375186	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1375187	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1375188	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1448546	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17214703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17292516	0.82[CHB][hapmap]
rs17292859	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs17293660	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1868345	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3888823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737522	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4738722	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs56055689	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56371425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62505116	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62505118	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62505119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62505121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7464175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs960561	0.82[CHB][hapmap];1.00[CHD][hapmap];0.86[LWK][hapmap]

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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10504263	PENK	cis	parietal	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59715200-59757400	Weak transcription	Fetal Intestine Large	intestine
2	chr8:59720800-59762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:59722400-59757200	Strong transcription	Dnd41	blood
4	chr8:59730800-59770800	Strong transcription	Fetal Thymus	thymus
5	chr8:59732200-59755200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:59745600-59770800	Weak transcription	Fetal Kidney	kidney
7	chr8:59745800-59770800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:59746400-59773200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:59746600-59763600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr8:59746800-59763600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:59747000-59755800	Weak transcription	Fetal Lung	lung
12	chr8:59747000-59757600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:59747400-59755200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:59747400-59757800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:59747400-59760400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:59747400-59770800	Weak transcription	Pancreas	Pancrea
17	chr8:59749200-59757600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:59749200-59762600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:59750800-59757600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:59750800-59760000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:59750800-59761800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:59750800-59762600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:59750800-59771000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:59751000-59756400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:59751000-59761600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:59751000-59763400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:59752200-59756400	Strong transcription	Primary T cells from cord blood	blood
28	chr8:59752400-59757600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:59753000-59755600	Enhancers	Hela-S3	cervix
30	chr8:59753200-59756600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:59753600-59755600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:59753600-59755600	Enhancers	HMEC	breast
33	chr8:59753600-59755800	Enhancers	NHEK	skin
34	chr8:59753600-59762600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr8:59753800-59758800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:59754000-59755800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:59754000-59756400	Weak transcription	Fetal Stomach	stomach
38	chr8:59754000-59762600	Weak transcription	Thymus	Thymus
39	chr8:59754200-59755400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:59754200-59755400	Enhancers	HUVEC	blood vessel
41	chr8:59754400-59755400	Enhancers	NHDF-Ad	bronchial
42	chr8:59754400-59755400	Enhancers	Osteobl	bone
43	chr8:59754400-59755600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:59754400-59755600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:59754400-59755600	Enhancers	NH-A	brain
46	chr8:59754400-59755800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:59754400-59756000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:59754600-59755400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr8:59754600-59755400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:59754600-59755400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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