Variant report

Variant	rs12271945
Chromosome Location	chr11:75085563-75085564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75083067..75087216-chr11:75110418..75113000,3	MCF-7	breast:
2	chr11:74990992..74993590-chr11:75084263..75086494,2	K562	blood:
3	chr11:75060348..75063888-chr11:75083916..75089627,7	K562	blood:
4	chr11:75050760..75054714-chr11:75085548..75088941,3	MCF-7	breast:
5	chr11:75074475..75076955-chr11:75084896..75086435,2	MCF-7	breast:
6	chr11:74990992..74994915-chr11:75082766..75086494,3	K562	blood:
7	chr11:75076999..75080604-chr11:75081592..75085575,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206941	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11236397	0.88[AMR][1000 genomes]
rs11236398	0.88[AMR][1000 genomes]
rs11236401	0.93[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes]
rs11236405	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236407	1.00[CEU][hapmap]
rs11236416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602383	1.00[ASN][1000 genomes]
rs11602596	0.88[AMR][1000 genomes]
rs11604864	1.00[ASN][1000 genomes]
rs11605734	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269895	0.88[AMR][1000 genomes]
rs12270766	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271518	0.88[AMR][1000 genomes]
rs12278108	0.93[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes]
rs12283536	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291595	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790302	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794577	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34530827	0.88[AMR][1000 genomes]
rs34775308	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34990111	1.00[ASN][1000 genomes]
rs35242615	1.00[ASN][1000 genomes]
rs35257045	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36089315	1.00[ASN][1000 genomes]
rs4121885	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56386203	1.00[ASN][1000 genomes]
rs67965584	1.00[ASN][1000 genomes]
rs7101921	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116977	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120396	1.00[CEU][hapmap];0.95[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131065	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004237	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12271945	ACER3	cis	cerebellum	SCAN
rs12271945	POLD3	cis	cerebellum	SCAN
rs12271945	LIPT2	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75064200-75086800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:75081200-75086600	Weak transcription	Gastric	stomach
3	chr11:75081200-75095200	Weak transcription	Dnd41	blood
4	chr11:75081400-75091800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:75082800-75087600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:75083000-75087800	Enhancers	Placenta	Placenta
7	chr11:75083400-75086600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:75083400-75087200	Weak transcription	Spleen	Spleen
9	chr11:75083600-75091000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:75083600-75094200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:75083800-75086800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr11:75083800-75091800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:75083800-75092000	Weak transcription	Adipose Nuclei	Adipose
14	chr11:75083800-75099400	Weak transcription	Right Atrium	heart
15	chr11:75084000-75086000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:75084000-75090200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:75084000-75091600	Weak transcription	K562	blood
18	chr11:75084000-75091800	Weak transcription	Liver	Liver
19	chr11:75084200-75087200	Weak transcription	Fetal Intestine Small	intestine
20	chr11:75084600-75086800	Weak transcription	Fetal Intestine Large	intestine
21	chr11:75084800-75090200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:75084800-75090200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:75085000-75091200	Weak transcription	Stomach Mucosa	stomach
24	chr11:75085000-75091800	Weak transcription	Hela-S3	cervix
25	chr11:75085400-75088200	Enhancers	A549	lung

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