Variant report

Variant	rs774145
Chromosome Location	chr1:220854012-220854013
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220853771..220855747-chr1:220856132..220859014,2	MCF-7	breast:
2	chr1:220454527..220455068-chr1:220853160..220854109,2	MCF-7	breast:
3	chr1:220853076..220854091-chr1:220906545..220907064,3	K562	blood:
4	chr1:220853123..220854093-chr1:220949753..220950686,4	K562	blood:
5	chr1:220852892..220854538-chr1:220905833..220907061,7	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1690714	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2069044	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2184936	0.80[CHB][hapmap]
rs2994525	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs337153	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs337154	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs366414	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs369049	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs381106	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs383681	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3849288	0.94[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs405196	0.90[EUR][1000 genomes]
rs414838	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs416735	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs426020	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs427216	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs438597	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs442236	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs7555109	0.85[EUR][1000 genomes]
rs774132	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs774146	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9431295	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468194	chr1:220845610-220885612	Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv549227	chr1:220845610-220885612	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv945302	chr1:220851349-220854713	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs774145	C1orf115	cis	Esophagus Muscularis	GTEx
rs774145	MOSC2	Cis_1M	lymphoblastoid	RTeQTL
rs774145	C1orf115	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220853600-220854400	Enhancers	Duodenum Mucosa	Duodenum
2	chr1:220853600-220854400	Enhancers	Hela-S3	cervix
3	chr1:220853600-220854600	Enhancers	Liver	Liver
4	chr1:220853600-220854600	Enhancers	Pancreas	Pancrea
5	chr1:220853600-220854800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:220853600-220854800	Enhancers	Adipose Nuclei	Adipose
7	chr1:220853600-220854800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:220853600-220854800	Enhancers	Stomach Mucosa	stomach
9	chr1:220853600-220854800	Enhancers	HepG2	liver

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