Variant report

Variant	rs1511695
Chromosome Location	chr1:220448330-220448331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:220447779-220448400	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:220446026..220449283-chr1:220451004..220455196,4	K562	blood:
2	chr1:220445957..220448646-chr1:220450817..220453082,3	K562	blood:
3	chr1:220445870..220448039-chr1:220448307..220450938,3	K562	blood:

Variant related genes	Relation type
RAB3GAP2	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10863537	0.83[CEU][hapmap];0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs11118508	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12402633	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12404532	0.94[CEU][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs12404566	0.82[EUR][1000 genomes]
rs12409065	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12411242	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12562531	0.85[ASN][1000 genomes]
rs12568267	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17565134	0.83[EUR][1000 genomes]
rs2048477	0.90[EUR][1000 genomes]
rs3767654	0.82[CEU][hapmap]
rs3814345	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4351641	0.94[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56074233	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57557703	0.82[EUR][1000 genomes]
rs59681037	0.82[EUR][1000 genomes]
rs72749210	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7526460	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7541290	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7543828	0.90[EUR][1000 genomes]
rs7551804	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs866978	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1511695	C1orf115	cis	lymphoblastoid	seeQTL
rs1511695	MOSC2	cis	lymphoblastoid	seeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220446400-220448400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:220446600-220448400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:220446600-220448600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:220446600-220448600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:220446600-220448600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:220446600-220448600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:220446600-220448600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:220446600-220448800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:220446600-220449000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:220446600-220449800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:220446600-220451800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:220446800-220449000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:220447200-220448400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr1:220447200-220448400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:220447200-220448600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr1:220447400-220452400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:220447800-220448400	Enhancers	K562	blood
18	chr1:220448000-220449000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:220448200-220448400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:220448200-220449000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:220448200-220450000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:220448200-220454200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:220448200-220455000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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