Variant report

Variant	rs744465
Chromosome Location	chr11:66629482-66629483
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66629130-66630011	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr11:66629326-66629845	K562	blood:	n/a	n/a
3	POLR2A	chr11:66629131-66629593	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr11:66623305-66630473	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:66629431-66629721	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:66629392-66629718	A549	lung:	n/a	n/a
7	POLR2A	chr11:66626135-66629497	K562	blood:	n/a	n/a
8	POLR2A	chr11:66627878-66629756	A549	lung:	n/a	n/a
9	POLR2A	chr11:66623068-66630428	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:66623077-66631490	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:66623894-66630730	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:66629358-66629677	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:66628190..66631041-chr11:66791870..66794073,2	MCF-7	breast:
2	chr11:66629433..66632533-chr11:66643859..66646288,3	MCF-7	breast:
3	chr11:65624214..65625937-chr11:66627992..66630258,2	K562	blood:

No data

Variant related genes	Relation type
PC	TF binding region
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11227596	0.83[ASN][1000 genomes]
rs3782079	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45625436	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs477335	0.81[AMR][1000 genomes]
rs478807	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs527550	0.81[AMR][1000 genomes]
rs55662252	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs563344	0.81[AMR][1000 genomes]
rs56848911	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57206977	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57220229	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs573673	0.81[AMR][1000 genomes]
rs58566730	0.81[ASN][1000 genomes]
rs60395535	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61088349	0.83[ASN][1000 genomes]
rs623022	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs639938	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs645307	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs648491	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs896437	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
7	nsv897795	chr11:66608521-66637926	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 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	chr11:66624200-66645000	Weak transcription	Fetal Kidney	kidney
2	chr11:66624400-66630800	Weak transcription	NHEK	skin
3	chr11:66624400-66636000	Weak transcription	Primary T cells from cord blood	blood
4	chr11:66624400-66637400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:66624400-66640200	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:66624800-66637400	Weak transcription	Aorta	Aorta
7	chr11:66625000-66631200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:66625000-66636200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:66625000-66648800	Weak transcription	Right Atrium	heart
10	chr11:66625200-66631200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:66625400-66629600	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:66625400-66630800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:66625400-66631200	Weak transcription	Brain Anterior Caudate	brain
14	chr11:66625400-66631600	Weak transcription	HSMMtube	muscle
15	chr11:66625400-66632000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:66625400-66632200	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:66625400-66632800	Weak transcription	HepG2	liver
18	chr11:66625400-66634600	Strong transcription	Fetal Stomach	stomach
19	chr11:66625400-66636000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:66625400-66636000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:66625400-66642200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:66625400-66642200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:66625400-66645400	Weak transcription	Fetal Lung	lung
24	chr11:66625400-66645800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:66625400-66648000	Weak transcription	Left Ventricle	heart
26	chr11:66625400-66650600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:66625600-66630200	Strong transcription	NHLF	lung
28	chr11:66625600-66631800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:66625600-66636000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:66625600-66636200	Strong transcription	Fetal Intestine Small	intestine
31	chr11:66625800-66630000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:66625800-66630200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:66625800-66630200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:66625800-66630400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:66625800-66636200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:66625800-66636400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:66625800-66650800	Weak transcription	Osteobl	bone
38	chr11:66626000-66633600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:66626200-66632000	Weak transcription	Fetal Heart	heart
40	chr11:66626200-66634200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:66626400-66634800	Strong transcription	Liver	Liver
42	chr11:66626600-66629800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:66626800-66634200	Strong transcription	Brain Germinal Matrix	brain
44	chr11:66627000-66629600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:66627000-66629800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:66627000-66630200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:66627000-66636400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:66627000-66643000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:66627200-66631000	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr11:66627200-66631000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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