Variant report

Variant	rs2508496
Chromosome Location	chr11:120083078-120083079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:120080368-120083375	IMR90	lung:	n/a	n/a
2	UBTF	chr11:120082997-120083356	K562	blood:	n/a	n/a
3	ZBTB7A	chr11:120082983-120083451	K562	blood:	n/a	n/a
4	POLR2A	chr11:120082991-120083125	K562	blood:	n/a	n/a
5	EGR1	chr11:120082731-120083212	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
2	chr11:120080662..120083182-chr11:120083944..120086303,3	MCF-7	breast:
3	chr11:120079370..120085014-chr11:120104504..120109067,9	K562	blood:
4	chr11:120038506..120040920-chr11:120082703..120085252,3	K562	blood:

No data

Variant related genes	Relation type
OAF	TF binding region
ENSG00000176984	Chromatin interaction
ENSG00000184232	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1287393	0.85[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1287395	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2253006	0.89[EUR][1000 genomes]
rs2444241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444242	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2509623	0.83[CEU][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs2845702	0.83[EUR][1000 genomes]
rs2845708	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2847499	0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs3225	0.92[CEU][hapmap]
rs470876	0.83[CEU][hapmap]
rs476809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs477863	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489454	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs492275	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs513944	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs521841	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533636	0.83[CEU][hapmap]
rs536743	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs537907	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs540857	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs547990	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562966	0.98[ASN][1000 genomes]
rs580174	0.92[CEU][hapmap]
rs692804	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs896695	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9655	0.92[CEU][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription 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 miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3322007	chr11:120079642-120084040	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3325819	chr11:120080267-120083115	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120080800-120083400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr11:120080800-120084000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:120081000-120083400	Active TSS	Gastric	stomach
4	chr11:120081000-120083400	Active TSS	NHLF	lung
5	chr11:120081000-120083600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:120081000-120083600	Active TSS	Esophagus	oesophagus
7	chr11:120081000-120083600	Active TSS	Ovary	ovary
8	chr11:120081000-120083600	Active TSS	Small Intestine	intestine
9	chr11:120081000-120084000	Active TSS	Fetal Kidney	kidney
10	chr11:120081000-120084200	Active TSS	Right Ventricle	heart
11	chr11:120081000-120084400	Active TSS	Rectal Smooth Muscle	rectum
12	chr11:120081200-120083200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:120081200-120083200	Active TSS	Liver	Liver
14	chr11:120081200-120083200	Active TSS	Duodenum Mucosa	Duodenum
15	chr11:120081200-120083200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
16	chr11:120081200-120083400	Active TSS	Brain Angular Gyrus	brain
17	chr11:120081200-120083400	Active TSS	HSMM	muscle
18	chr11:120081200-120083400	Active TSS	HSMMtube	muscle
19	chr11:120081200-120083400	Active TSS	NHDF-Ad	bronchial
20	chr11:120081200-120083600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:120081200-120083600	Active TSS	Brain Anterior Caudate	brain
22	chr11:120081200-120083600	Active TSS	Fetal Stomach	stomach
23	chr11:120081200-120083800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:120081200-120083800	Active TSS	Psoas Muscle	Psoas
25	chr11:120081200-120084000	Active TSS	Fetal Intestine Large	intestine
26	chr11:120081200-120084000	Active TSS	Left Ventricle	heart
27	chr11:120081200-120084000	Active TSS	Pancreas	Pancrea
28	chr11:120081200-120084400	Active TSS	Right Atrium	heart
29	chr11:120081200-120084600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:120081400-120083400	Active TSS	Hela-S3	cervix
31	chr11:120081400-120083600	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr11:120082000-120083200	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr11:120082000-120083400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:120082000-120083800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:120082200-120083600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr11:120082200-120083600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:120082200-120083600	Flanking Active TSS	HUVEC	blood vessel
38	chr11:120082200-120084000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr11:120082200-120084000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr11:120082200-120085200	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr11:120082400-120083200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr11:120082400-120083600	Enhancers	Fetal Heart	heart
43	chr11:120082400-120083800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:120082600-120083400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:120082600-120083400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr11:120082600-120083600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:120082600-120084200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:120082600-120084400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:120082600-120084400	Active TSS	Colon Smooth Muscle	Colon
50	chr11:120082800-120083200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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