Variant report

Variant	rs17008595
Chromosome Location	chr1:220940834-220940835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220934709..220937356-chr1:220938309..220941059,2	K562	blood:
2	chr1:220940137..220941069-chr1:220949712..220950687,2	K562	blood:
3	chr1:220933592..220936563-chr1:220940646..220943203,2	MCF-7	breast:
4	chr1:220939346..220941302-chr1:220942720..220944572,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs17008643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2172699	1.00[CEU][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2172700	0.82[ASN][1000 genomes]
rs2279636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3738176	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3806327	0.92[ASN][1000 genomes]
rs72472382	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[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	nsv523389	chr1:220926844-220956012	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17008595	C1orf115	Cis_1M	lymphoblastoid	RTeQTL
rs17008595	MOSC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220922600-220943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:220922600-220946400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:220922800-220959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:220922800-220959600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:220923200-220948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:220924600-220944000	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:220924800-220945600	Weak transcription	Osteobl	bone
8	chr1:220925000-220946000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:220925000-220959400	Weak transcription	Brain Angular Gyrus	brain
10	chr1:220925200-220942000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:220925200-220943400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:220925400-220950200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:220929600-220943000	Weak transcription	Brain Germinal Matrix	brain
14	chr1:220930000-220942400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:220930000-220943400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:220930000-220946000	Weak transcription	Fetal Brain Female	brain
17	chr1:220930000-220950000	Weak transcription	Fetal Brain Male	brain
18	chr1:220930000-220950200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:220930000-220950400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:220930000-220959600	Weak transcription	Psoas Muscle	Psoas
21	chr1:220930200-220944000	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:220930200-220950000	Weak transcription	Brain Anterior Caudate	brain
23	chr1:220930400-220950000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:220930400-220959600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:220930600-220950000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:220930800-220946000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:220931000-220946200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:220931200-220942400	Weak transcription	Hela-S3	cervix
29	chr1:220931200-220946600	Weak transcription	HUVEC	blood vessel
30	chr1:220931200-220959000	Weak transcription	Brain Substantia Nigra	brain
31	chr1:220931400-220944400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:220936200-220959600	Weak transcription	A549	lung
33	chr1:220936400-220943800	Weak transcription	Spleen	Spleen
34	chr1:220936600-220943400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:220936600-220943800	Weak transcription	Colonic Mucosa	Colon
36	chr1:220936600-220946000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:220936600-220958200	Weak transcription	Esophagus	oesophagus
38	chr1:220936800-220942200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:220936800-220942600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:220936800-220942600	Weak transcription	Gastric	stomach
41	chr1:220937000-220941200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:220937000-220941600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:220937400-220941600	Weak transcription	Right Ventricle	heart
44	chr1:220937600-220941800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:220937800-220941400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:220938600-220941200	Weak transcription	Ovary	ovary
47	chr1:220938600-220942000	Weak transcription	Aorta	Aorta
48	chr1:220938600-220943600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:220939000-220941200	Enhancers	Liver	Liver
50	chr1:220939000-220941400	Weak transcription	Pancreas	Pancrea

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