Variant report

Variant	rs1321311
Chromosome Location	chr6:36622900-36622901
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36610331..36612483-chr6:36620560..36622921,2	MCF-7	breast:
2	chr6:36621309..36623042-chr6:36633695..36636161,2	K562	blood:
3	chr6:36615853..36625488-chr6:36645022..36649146,15	MCF-7	breast:
4	chr6:36619841..36621635-chr6:36622788..36625137,2	K562	blood:
5	chr6:36619714..36621420-chr6:36622788..36625577,3	K562	blood:

Variant related genes	Relation type
ENSG00000124762	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12199346	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12207916	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1321310	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1321313	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3176326	0.81[JPT][hapmap]
rs4331968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56100429	0.96[ASN][1000 genomes]
rs66761782	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7742159	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756236	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7774130	0.84[AMR][1000 genomes]
rs9462207	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9462210	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9470358	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470361	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470366	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918353	0.96[AFR][1000 genomes];0.98[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	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

Variant related diseases (count:2)

Disease	PMID	Source
Colorectal cancer	22634755	GWAS catalog
Electrocardiographic traits	20062063	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1321311	CDKN1A	cis	cerebellum	SCAN
rs1321311	SRPK1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36611600-36628600	Weak transcription	Right Atrium	heart
2	chr6:36613400-36625000	Weak transcription	Fetal Kidney	kidney
3	chr6:36618200-36624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:36618200-36627400	Weak transcription	Left Ventricle	heart
5	chr6:36619200-36625600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:36619400-36628400	Weak transcription	Adipose Nuclei	Adipose
7	chr6:36620200-36628000	Weak transcription	Colonic Mucosa	Colon
8	chr6:36620200-36628600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:36620400-36623200	Weak transcription	Primary B cells from cord blood	blood
10	chr6:36620400-36626200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:36621600-36624400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:36621800-36626000	Enhancers	Thymus	Thymus
13	chr6:36622000-36626200	Enhancers	Fetal Thymus	thymus
14	chr6:36622200-36628600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:36622400-36624200	Enhancers	Placenta	Placenta
16	chr6:36622400-36628800	Enhancers	GM12878-XiMat	blood
17	chr6:36622600-36623000	Enhancers	Fetal Intestine Large	intestine
18	chr6:36622600-36623400	Enhancers	Fetal Intestine Small	intestine
19	chr6:36622800-36623000	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:36622800-36623000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:36622800-36623000	Bivalent Enhancer	Fetal Stomach	stomach
22	chr6:36622800-36623200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:36622800-36623200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr6:36622800-36623400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:36622800-36623400	Enhancers	Fetal Muscle Leg	muscle

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