Variant report

Variant	rs6693911
Chromosome Location	chr1:223836237-223836238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223834427..223836360-chr1:223837595..223841642,3	MCF-7	breast:
2	chr1:223833118..223836523-chr1:223838327..223841763,4	MCF-7	breast:
3	chr1:223836208..223847031-chr1:223849408..223858826,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203697	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10495210	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10495212	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10799570	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10915972	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10916633	0.84[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.94[MEX][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1109222	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs1125346	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12408619	0.81[ASN][1000 genomes]
rs12566877	0.86[CEU][hapmap];0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs16842027	0.80[CEU][hapmap]
rs2186009	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34089008	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4653523	0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs4653863	0.81[AMR][1000 genomes]
rs4653868	0.82[CEU][hapmap];0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs4653870	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap]
rs4653877	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57611697	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60773808	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61825220	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6661481	0.86[CEU][hapmap];0.91[CHB][hapmap]
rs6662068	0.86[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.94[MEX][hapmap]
rs6671050	0.86[CEU][hapmap];0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs6677146	0.84[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.94[MEX][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6687391	0.89[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap]
rs6687688	0.86[CEU][hapmap];0.95[CHB][hapmap]
rs6691383	0.81[AMR][1000 genomes]
rs6701150	0.84[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68072917	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv873209	chr1:223707647-223846564	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv873210	chr1:223707647-223856414	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv873211	chr1:223707647-223867631	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1000199	chr1:223803545-223854859	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv873212	chr1:223807262-223853792	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1012050	chr1:223824652-223843610	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv535309	chr1:223824652-223843610	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6693911	MRPL14	trans	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223830400-223841800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:223833400-223836400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:223833400-223836600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:223833600-223850800	Weak transcription	Colonic Mucosa	Colon
5	chr1:223833800-223836800	Weak transcription	Esophagus	oesophagus
6	chr1:223834000-223837200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:223834000-223837400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:223834200-223836400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:223834200-223836400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:223834200-223840200	Weak transcription	Gastric	stomach
11	chr1:223834200-223841800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:223834400-223836400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:223834400-223841600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:223834600-223836600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:223835200-223836400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:223835400-223838400	Weak transcription	Stomach Mucosa	stomach
17	chr1:223835400-223840200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:223835800-223837200	ZNF genes & repeats	Fetal Stomach	stomach
19	chr1:223835800-223840200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:223836000-223840200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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