Variant report

Variant	rs6697965
Chromosome Location	chr1:220943801-220943802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220942073..220944340-chr1:220961734..220963396,2	K562	blood:
2	chr1:220943102..220945279-chr1:220957111..220959212,2	MCF-7	breast:
3	chr1:220939346..220941302-chr1:220942720..220944572,2	MCF-7	breast:
4	chr1:220942405..220943907-chr1:220947145..220949328,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10779415	0.83[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10863562	0.83[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11118597	0.82[ASW][hapmap];0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs11118598	0.83[AFR][1000 genomes]
rs11118599	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118600	1.00[CEU][hapmap];0.84[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12027850	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12402066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562235	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568838	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12738691	0.81[EUR][1000 genomes]
rs12758783	0.81[EUR][1000 genomes]
rs17008609	1.00[CEU][hapmap];0.81[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17008613	0.82[EUR][1000 genomes]
rs2642424	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2935225	0.82[EUR][1000 genomes]
rs3015252	0.82[EUR][1000 genomes]
rs337147	0.83[CEU][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs337148	0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs337150	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs365346	0.81[EUR][1000 genomes]
rs365398	0.85[EUR][1000 genomes]
rs365693	0.81[EUR][1000 genomes]
rs3795536	0.88[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs381023	0.84[EUR][1000 genomes]
rs382959	0.81[EUR][1000 genomes]
rs386118	0.82[EUR][1000 genomes]
rs391315	0.81[EUR][1000 genomes]
rs421736	0.86[EUR][1000 genomes]
rs425473	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs439130	0.82[EUR][1000 genomes]
rs4846662	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6657944	0.88[ASW][hapmap];1.00[CEU][hapmap];0.81[JPT][hapmap];0.92[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6659604	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7518916	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519399	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519414	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536276	1.00[CEU][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs7539769	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542648	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.80[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542723	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553948	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556458	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.97[MKK][hapmap];0.88[TSI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556561	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9430990	0.83[CEU][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	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6697965	MOSC2	Cis_1M	lymphoblastoid	RTeQTL
rs6697965	C1orf115	cis	multi-tissue	Pritchard
rs6697965	C1orf115	cis	Nerve Tibial	GTEx
rs6697965	C1orf115	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220922600-220946400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:220922800-220959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:220922800-220959600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:220923200-220948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:220924600-220944000	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:220924800-220945600	Weak transcription	Osteobl	bone
7	chr1:220925000-220946000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:220925000-220959400	Weak transcription	Brain Angular Gyrus	brain
9	chr1:220925400-220950200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:220930000-220946000	Weak transcription	Fetal Brain Female	brain
11	chr1:220930000-220950000	Weak transcription	Fetal Brain Male	brain
12	chr1:220930000-220950200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:220930000-220950400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:220930000-220959600	Weak transcription	Psoas Muscle	Psoas
15	chr1:220930200-220944000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:220930200-220950000	Weak transcription	Brain Anterior Caudate	brain
17	chr1:220930400-220950000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:220930400-220959600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:220930600-220950000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:220930800-220946000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:220931000-220946200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:220931200-220946600	Weak transcription	HUVEC	blood vessel
23	chr1:220931200-220959000	Weak transcription	Brain Substantia Nigra	brain
24	chr1:220931400-220944400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:220936200-220959600	Weak transcription	A549	lung
26	chr1:220936600-220946000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:220936600-220958200	Weak transcription	Esophagus	oesophagus
28	chr1:220939000-220960400	Weak transcription	Small Intestine	intestine
29	chr1:220941200-220944400	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:220941200-220949800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:220941400-220948400	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:220941600-220944400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:220941600-220945000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr1:220941800-220944400	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:220941800-220945000	Strong transcription	Ovary	ovary
36	chr1:220941800-220945600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:220942000-220944200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:220942000-220944400	Strong transcription	Aorta	Aorta
39	chr1:220942000-220944400	Strong transcription	Rectal Smooth Muscle	rectum
40	chr1:220942000-220944400	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:220942000-220945000	Strong transcription	Lung	lung
42	chr1:220942200-220946800	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:220942200-220948200	Strong transcription	Fetal Stomach	stomach
44	chr1:220942400-220944200	Strong transcription	Hela-S3	cervix
45	chr1:220942400-220944400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:220942400-220944400	Genic enhancers	Liver	Liver
47	chr1:220942400-220944400	Genic enhancers	Right Ventricle	heart
48	chr1:220942400-220944400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr1:220942400-220945800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr1:220942400-220950200	Weak transcription	Right Atrium	heart

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