Variant report

Variant	rs236490
Chromosome Location	chr6:36684518-36684519
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36684189..36687540-chr6:36688167..36692245,5	MCF-7	breast:
2	chr6:36587328..36589112-chr6:36683598..36686485,2	MCF-7	breast:
3	chr6:36644040..36648031-chr6:36680924..36685784,5	MCF-7	breast:
4	chr6:36682230..36683943-chr6:36684153..36685768,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255587	Chromatin interaction
ENSG00000124762	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs183541	0.88[MEX][hapmap]
rs1864750	0.83[CHD][hapmap]
rs236429	0.82[CEU][hapmap]
rs236430	0.82[CEU][hapmap]
rs236432	0.82[CEU][hapmap]
rs236452	0.83[CHD][hapmap]
rs236478	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs236480	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs236481	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs236482	0.89[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.80[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs236483	0.85[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.80[JPT][hapmap]
rs236487	0.89[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.80[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs236488	0.89[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs236489	0.89[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.80[JPT][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv885808	chr6:36659932-36684518	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs236490	MOCS1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36661400-36696400	Weak transcription	Right Atrium	heart
2	chr6:36671800-36694000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr6:36672200-36693600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr6:36677000-36694000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr6:36681400-36688800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:36682000-36686400	Strong transcription	Spleen	Spleen
7	chr6:36682000-36686800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:36682200-36686200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:36682400-36687000	Weak transcription	GM12878-XiMat	blood
10	chr6:36683200-36686400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:36683400-36684600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr6:36683600-36686400	Enhancers	Esophagus	oesophagus
13	chr6:36683800-36689400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:36683800-36695200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:36684200-36684600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:36684200-36684600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:36684200-36684600	Enhancers	Hela-S3	cervix
18	chr6:36684200-36685000	Enhancers	NHEK	skin
19	chr6:36684200-36685200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr6:36684200-36685600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr6:36684400-36685200	Enhancers	Colonic Mucosa	Colon
22	chr6:36684400-36685400	Enhancers	Duodenum Mucosa	Duodenum
23	chr6:36684400-36685400	Enhancers	Stomach Mucosa	stomach
24	chr6:36684400-36686000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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