Variant report

Variant	rs11750982
Chromosome Location	chr6:36666327-36666328
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36561573..36563528-chr6:36666285..36668118,2	K562	blood:
2	chr6:36644113..36646429-chr6:36664735..36667230,2	K562	blood:
3	chr6:36662298..36665035-chr6:36665168..36667578,2	MCF-7	breast:
4	chr6:36664831..36667181-chr6:36668098..36669647,2	MCF-7	breast:
5	chr6:36658841..36660500-chr6:36665313..36667930,3	MCF-7	breast:
6	chr6:36665939..36668161-chr6:36669239..36671316,2	MCF-7	breast:
7	chr6:36650715..36656032-chr6:36664945..36667924,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124762	Chromatin interaction
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11750955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753407	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12176359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1972291	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2395657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2894409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35442158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72853397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756867	0.91[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs9349006	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9349007	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9368955	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9380589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9380590	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9380591	0.81[EUR][1000 genomes]
rs9380592	1.00[CEU][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9394373	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394376	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	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
4	esv3343209	chr6:36663774-36668072	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11750982	FLJ43093	cis	multi-tissue	Pritchard
rs11750982	SRSF3	cis	parietal	SCAN
rs11750982	GRM4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36655000-36672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:36655200-36669400	Weak transcription	Gastric	stomach
3	chr6:36660600-36666400	Enhancers	Primary B cells from cord blood	blood
4	chr6:36660800-36666800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:36661000-36667000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:36661200-36668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:36661400-36696400	Weak transcription	Right Atrium	heart
8	chr6:36663200-36666400	Weak transcription	Fetal Heart	heart
9	chr6:36664800-36668600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr6:36665200-36666600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr6:36665200-36667000	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:36665200-36667000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:36665200-36667000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:36665200-36667800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr6:36665400-36669400	Weak transcription	Spleen	Spleen
16	chr6:36665600-36666600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr6:36665600-36666600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:36665600-36667000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr6:36665800-36667800	Enhancers	Fetal Intestine Small	intestine
20	chr6:36666000-36667200	Enhancers	Stomach Mucosa	stomach
21	chr6:36666000-36667800	Enhancers	Fetal Intestine Large	intestine
22	chr6:36666000-36669000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:36666200-36666600	Enhancers	Dnd41	blood
24	chr6:36666200-36666800	Enhancers	Rectal Mucosa Donor 29	rectum

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