Variant report

Variant	rs2508495
Chromosome Location	chr11:120082748-120082749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	EGR1	chr11:120082731-120083212	K562	blood:	n/a	n/a
3	HCFC1	chr11:120082733-120082791	K562	blood:	n/a	n/a
4	MXI1	chr11:120080653-120082910	SK-N-SH	brain:	n/a	chr11:120081821-120081830
5	CTBP2	chr11:120080927-120082755	H1-hESC	embryonic stem cell:	n/a	n/a
6	SMARCB1	chr11:120081522-120082751	Hela-S3	cervix:	n/a	n/a

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:

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

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1287393	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1287395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2253006	0.92[EUR][1000 genomes]
rs2444241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2509623	0.92[EUR][1000 genomes]
rs2845702	0.86[EUR][1000 genomes]
rs2845708	0.97[EUR][1000 genomes]
rs2847499	0.87[EUR][1000 genomes]
rs476809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs477863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489454	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs492275	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs513944	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs521841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536743	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs537907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs540857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs547990	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562966	0.98[ASN][1000 genomes]
rs896695	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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:116 , 50 per page) page: 1 2 3

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	chr11:120081200-120083000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:120081200-120083000	Active TSS	Brain Substantia Nigra	brain
14	chr11:120081200-120083200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:120081200-120083200	Active TSS	Liver	Liver
16	chr11:120081200-120083200	Active TSS	Duodenum Mucosa	Duodenum
17	chr11:120081200-120083200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
18	chr11:120081200-120083400	Active TSS	Brain Angular Gyrus	brain
19	chr11:120081200-120083400	Active TSS	HSMM	muscle
20	chr11:120081200-120083400	Active TSS	HSMMtube	muscle
21	chr11:120081200-120083400	Active TSS	NHDF-Ad	bronchial
22	chr11:120081200-120083600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:120081200-120083600	Active TSS	Brain Anterior Caudate	brain
24	chr11:120081200-120083600	Active TSS	Fetal Stomach	stomach
25	chr11:120081200-120083800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:120081200-120083800	Active TSS	Psoas Muscle	Psoas
27	chr11:120081200-120084000	Active TSS	Fetal Intestine Large	intestine
28	chr11:120081200-120084000	Active TSS	Left Ventricle	heart
29	chr11:120081200-120084000	Active TSS	Pancreas	Pancrea
30	chr11:120081200-120084400	Active TSS	Right Atrium	heart
31	chr11:120081200-120084600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:120081400-120083400	Active TSS	Hela-S3	cervix
33	chr11:120081400-120083600	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr11:120081800-120082800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr11:120082000-120082800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:120082000-120082800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:120082000-120082800	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr11:120082000-120083200	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr11:120082000-120083400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:120082000-120083800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:120082200-120082800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr11:120082200-120082800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr11:120082200-120082800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
44	chr11:120082200-120082800	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr11:120082200-120082800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr11:120082200-120082800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr11:120082200-120082800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
48	chr11:120082200-120082800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
49	chr11:120082200-120082800	Flanking Active TSS	Colonic Mucosa	Colon
50	chr11:120082200-120082800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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