Variant report

Variant	rs2282531
Chromosome Location	chr11:66099494-66099495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66097213-66100151	U87	brain:	n/a	n/a
2	POLR2A	chr11:66099180-66099498	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:66098066-66099515	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:66097286-66099531	U87	brain:	n/a	n/a
5	POLR2A	chr11:66095435-66099531	U87	brain:	n/a	n/a
6	POLR2A	chr11:66094133-66099963	U87	brain:	n/a	n/a
7	POLR2A	chr11:66099365-66099540	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66079593..66081996-chr11:66098555..66100788,2	K562	blood:
2	chr11:66047213..66049788-chr11:66097470..66100241,3	K562	blood:
3	chr11:66096036..66100735-chr11:66109250..66113337,6	K562	blood:
4	chr11:66054900..66056693-chr11:66099016..66101180,2	K562	blood:
5	chr11:66099391..66101951-chr11:66136865..66139271,2	K562	blood:
6	chr11:66099391..66103232-chr11:66136865..66139271,3	K562	blood:
7	chr11:66078237..66081093-chr11:66098609..66103641,6	K562	blood:
8	chr11:65623324..65625591-chr11:66098179..66100735,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254756	TF binding region
ENSG00000172757	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000172732	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1039594	0.88[EUR][1000 genomes]
rs1047029	0.89[EUR][1000 genomes]
rs10750784	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10791869	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10791872	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10791874	0.84[EUR][1000 genomes]
rs10791876	0.81[EUR][1000 genomes]
rs10896111	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10896112	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10896115	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10896116	0.83[EUR][1000 genomes]
rs11227465	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11601396	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11823140	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12416747	0.86[EUR][1000 genomes]
rs12576299	0.87[EUR][1000 genomes]
rs12577196	0.87[EUR][1000 genomes]
rs12785651	0.96[CEU][hapmap]
rs12786563	0.96[CEU][hapmap]
rs12794121	0.89[EUR][1000 genomes]
rs1784029	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1785633	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1785639	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1892940	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2236679	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2279861	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2279862	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2282530	0.96[CEU][hapmap]
rs3016767	0.89[EUR][1000 genomes]
rs3177514	0.89[EUR][1000 genomes]
rs4244813	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4466842	0.88[CEU][hapmap]
rs4930177	0.89[EUR][1000 genomes]
rs4930178	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4930179	0.83[EUR][1000 genomes]
rs4930362	0.83[EUR][1000 genomes]
rs4930368	0.96[CEU][hapmap]
rs55998145	0.83[EUR][1000 genomes]
rs56123976	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61891449	0.84[EUR][1000 genomes]
rs6591213	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6591217	0.81[EUR][1000 genomes]
rs7104253	0.82[EUR][1000 genomes]
rs7104570	1.00[CEU][hapmap]
rs7105401	0.81[EUR][1000 genomes]
rs7107191	0.86[EUR][1000 genomes]
rs7110944	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7117630	0.84[EUR][1000 genomes]
rs7126018	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73489638	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7939111	0.81[EUR][1000 genomes]
rs905770	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs947978	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv1813137	chr11:66098322-66106725	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
9	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	esv1850142	chr11:66099494-66105817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66084600-66103200	Weak transcription	Small Intestine	intestine
2	chr11:66093200-66102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66094400-66102800	Weak transcription	Psoas Muscle	Psoas
4	chr11:66095000-66102800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:66095800-66100800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:66096400-66099600	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:66096400-66099600	Weak transcription	Ovary	ovary
8	chr11:66096400-66099600	Weak transcription	Right Ventricle	heart
9	chr11:66096400-66099600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:66096400-66099800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:66096400-66099800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:66096400-66099800	Weak transcription	Colonic Mucosa	Colon
13	chr11:66096400-66099800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:66096400-66100000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:66096400-66100000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:66096400-66100200	Weak transcription	Pancreas	Pancrea
17	chr11:66096400-66101000	Weak transcription	Brain Angular Gyrus	brain
18	chr11:66096400-66101600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:66096400-66102400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:66096400-66102400	Weak transcription	HSMM	muscle
21	chr11:66096400-66102600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:66096400-66102600	Weak transcription	HSMMtube	muscle
23	chr11:66096400-66102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:66096400-66102800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:66096400-66102800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:66096400-66102800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:66096400-66102800	Weak transcription	Left Ventricle	heart
28	chr11:66096400-66102800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:66096400-66102800	Weak transcription	Right Atrium	heart
30	chr11:66096400-66103000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr11:66096400-66103000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:66096400-66104400	Weak transcription	Dnd41	blood
33	chr11:66096600-66099600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:66096600-66099800	Weak transcription	Adipose Nuclei	Adipose
35	chr11:66096600-66100000	Weak transcription	Placenta	Placenta
36	chr11:66096600-66100200	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:66096600-66101800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:66096600-66102400	Weak transcription	Stomach Mucosa	stomach
39	chr11:66096600-66102400	Weak transcription	A549	lung
40	chr11:66096600-66102600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:66096600-66102800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:66096600-66102800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:66096600-66102800	Weak transcription	Fetal Lung	lung
44	chr11:66096600-66103000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:66097000-66099600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:66097000-66102400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:66097600-66102600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr11:66098000-66099800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:66098000-66100000	Weak transcription	HepG2	liver
50	chr11:66098000-66100600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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