Variant report

Variant	rs12276627
Chromosome Location	chr11:72975471-72975472
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr11:72975407-72975704	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3AK20	chr11:72975467-72975812	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:72975428-72975478	SKMC	muscle:	n/a
2	chr11:72975428-72975478	PFSK-1	brain:	n/a
3	chr11:72975428-72975478	NHBE	bronchial:	n/a
4	chr11:72975428-72975478	U87	brain:	n/a
5	chr11:72975428-72975478	IMR90	lung:	fetal
6	chr11:72975428-72975478	AG09309	skin:	n/a
7	chr11:72975428-72975478	HCT-116	colon:	n/a
8	chr11:72975428-72975478	SK-N-MC	brain:	n/a
9	chr11:72975428-72975478	A549	lung:	n/a
10	chr11:72975428-72975478	CMK	blood:	n/a
11	chr11:72975428-72975478	HMEC	breast:	n/a
12	chr11:72975428-72975478	Caco-2	colon:	n/a
13	chr11:72975428-72975478	LNCaP	prostate:	n/a
14	chr11:72975428-72975478	HNPCEpiC	eye:	n/a
15	chr11:72975428-72975478	K562	blood:	n/a
16	chr11:72975428-72975478	HEK293	kidney:	embryo
17	chr11:72975428-72975478	HRCEpiC	kidney:	n/a
18	chr11:72975428-72975478	MCF-7	breast:	n/a
19	chr11:72975428-72975478	GM12892	blood:	n/a
20	chr11:72975428-72975478	RPTEC	kidney:	n/a
21	chr11:72975428-72975478	SK-N-SH_RA	brain:	n/a
22	chr11:72975428-72975478	Hepatocyte	liver:	n/a
23	chr11:72975428-72975478	HCPEpiC	choroid plexus:	n/a
24	chr11:72975428-72975478	HAEpiC	amniotic membrane:	n/a
25	chr11:72975428-72975478	Hela-S3	cervix:	n/a
26	chr11:72975428-72975478	PANC-1	pancreas:	n/a
27	chr11:72975428-72975478	HRPEpiC	eye:	n/a
28	chr11:72975428-72975478	GM06990	blood:	n/a
29	chr11:72975428-72975478	MCF10A-Er-Src	breast:	n/a
30	chr11:72975428-72975478	HRE	kidney:	n/a
31	chr11:72975428-72975478	HCF	heart:	n/a
32	chr11:72975428-72975478	NHDF-neo	bronchial:	n/a
33	chr11:72975428-72975478	SK-N-SH	brain:	n/a
34	chr11:72975428-72975478	H1-hESC	embryonic stem cell:	embryo
35	chr11:72975428-72975478	T-47D	breast:	n/a
36	chr11:72975428-72975478	NH-A	brain:	n/a
37	chr11:72975428-72975478	ECC-1	luminal epithelium:	n/a
38	chr11:72975428-72975478	HCM	heart:	n/a
39	chr11:72975428-72975478	NT2-D1	testis:	n/a
40	chr11:72975428-72975478	AG09319	gingival:	n/a
41	chr11:72975428-72975478	GM12878	blood:	n/a
42	chr11:72975428-72975478	HepG2	liver:	n/a
43	chr11:72975428-72975478	ProgFib	skin:	n/a
44	chr11:72975428-72975478	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:72975428-72975478	GM19239	blood:	n/a
46	chr11:72975428-72975478	HIPEpiC	eye:	n/a
47	chr11:72975428-72975478	HEEpiC	esophagus:	n/a
48	chr11:72975428-72975478	BE2_C	brain:	n/a
49	chr11:72975428-72975478	SAEC	small airway:	n/a
50	chr11:72975428-72975478	ovcar-3	ovarian:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72973762..72975589-chr11:72980219..72982550,2	K562	blood:
2	chr11:72974009..72977358-chr11:72978806..72983362,4	MCF-7	breast:
3	chr11:72974580..72977095-chr11:73086644..73089589,3	K562	blood:

No data

Variant related genes	Relation type
P2RY6	TF binding region
P2RY6	CpG island
ENSG00000171631	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10898913	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10898914	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10898915	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235699	1.00[JPT][hapmap]
rs11235701	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235703	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235705	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235707	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235708	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235709	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235710	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235711	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235712	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235713	1.00[ASN][1000 genomes]
rs12363628	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12787775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12790447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794405	1.00[ASN][1000 genomes]
rs12801084	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12808111	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1894075	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513476	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34023835	1.00[ASN][1000 genomes]
rs34385073	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35455220	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35963948	1.00[ASN][1000 genomes]
rs4432047	1.00[ASN][1000 genomes]
rs6592517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67897720	1.00[ASN][1000 genomes]
rs7103650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114877	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7116594	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123808	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127013	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7127179	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127705	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7127940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925481	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7925649	1.00[JPT][hapmap];0.89[AMR][1000 genomes]
rs7930891	1.00[ASN][1000 genomes]
rs7942649	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs882904	1.00[ASN][1000 genomes]
rs9988805	1.00[JPT][hapmap];0.84[AMR][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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72970000-72976000	Weak transcription	HSMMtube	muscle
2	chr11:72971400-72975600	Weak transcription	Spleen	Spleen
3	chr11:72974800-72976000	Weak transcription	A549	lung
4	chr11:72975200-72975600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:72975200-72975800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:72975200-72975800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr11:72975200-72975800	Enhancers	Lung	lung
8	chr11:72975200-72976200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
9	chr11:72975200-72977400	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr11:72975400-72975600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:72975400-72975600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:72975400-72975600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:72975400-72975600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:72975400-72975600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr11:72975400-72975600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:72975400-72975600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:72975400-72975600	Bivalent/Poised TSS	Colonic Mucosa	Colon
18	chr11:72975400-72975600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
19	chr11:72975400-72975600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
20	chr11:72975400-72975600	Enhancers	Psoas Muscle	Psoas
21	chr11:72975400-72975600	Active TSS	Right Atrium	heart
22	chr11:72975400-72975600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr11:72975400-72975800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr11:72975400-72975800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr11:72975400-72975800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:72975400-72975800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr11:72975400-72975800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:72975400-72975800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:72975400-72975800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:72975400-72975800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:72975400-72975800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:72975400-72975800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:72975400-72975800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:72975400-72975800	Bivalent Enhancer	Adipose Nuclei	Adipose
35	chr11:72975400-72975800	Active TSS	Aorta	Aorta
36	chr11:72975400-72975800	Bivalent Enhancer	Brain Germinal Matrix	brain
37	chr11:72975400-72975800	Bivalent Enhancer	Brain Hippocampus Middle	brain
38	chr11:72975400-72975800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr11:72975400-72975800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr11:72975400-72975800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
41	chr11:72975400-72975800	Active TSS	Right Ventricle	heart
42	chr11:72975400-72975800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr11:72975400-72975800	Bivalent/Poised TSS	HepG2	liver
44	chr11:72975400-72975800	Active TSS	Osteobl	bone
45	chr11:72975400-72976000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr11:72975400-72976000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:72975400-72976000	Active TSS	Fetal Intestine Small	intestine
48	chr11:72975400-72976000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:72975400-72976000	Flanking Active TSS	HMEC	breast
50	chr11:72975400-72976000	Active TSS	HSMM	muscle

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