Variant report

Variant	rs72910039
Chromosome Location	chr11:46300915-46300916
allele	A/G
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:10)
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	chr11:46300879-46301204	K562	blood:	n/a	n/a
2	RCOR1	chr11:46299974-46301610	K562	blood:	n/a	n/a
3	POLR2A	chr11:46299508-46301831	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr11:46299784-46301862	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr11:46299754-46301142	K562	blood:	n/a	n/a
6	TEAD4	chr11:46299797-46301494	K562	blood:	n/a	n/a
7	TAF1	chr11:46299907-46300923	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr11:46299039-46301613	IMR90	lung:	n/a	n/a
9	MXI1	chr11:46298643-46301866	IMR90	lung:	n/a	n/a
10	MAZ	chr11:46298848-46301753	IMR90	lung:	n/a	chr11:46299634-46299644 chr11:46301587-46301597 chr11:46300304-46300314
11	UBTF	chr11:46299549-46300918	K562	blood:	n/a	n/a
12	CTCF	chr11:46300840-46300990	AG04450	lung:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46300583..46302153-chr11:46302372..46304323,2	MCF-7	breast:
2	chr11:46257536..46260589-chr11:46299825..46303557,4	K562	blood:
3	chr11:46299347..46301485-chr11:46304045..46305956,2	MCF-7	breast:
4	chr11:46300020..46301678-chr11:46304027..46305716,2	K562	blood:
5	chr11:46283063..46284640-chr11:46299295..46301422,2	K562	blood:
6	chr11:46299380..46302376-chr11:46328886..46330806,2	K562	blood:
7	chr11:46257536..46260038-chr11:46298629..46301325,2	K562	blood:
8	chr11:46293083..46308698-chr11:46310742..46320666,35	K562	blood:
9	chr11:46299997..46302938-chr11:46322600..46325480,2	K562	blood:
10	chr11:46296992..46299391-chr11:46300223..46303625,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255007	TF binding region
ENSG00000254639	Chromatin interaction
ENSG00000157613	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11038851	0.84[ASN][1000 genomes]
rs61885561	0.84[ASN][1000 genomes]
rs72910053	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46298400-46302400	Weak transcription	Fetal Heart	heart
2	chr11:46298800-46301200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
3	chr11:46299000-46301200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:46299000-46301800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr11:46299400-46301400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
6	chr11:46299600-46301400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
7	chr11:46299600-46301400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
8	chr11:46299800-46301800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:46300000-46301000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
10	chr11:46300000-46301400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
11	chr11:46300000-46301800	Bivalent Enhancer	Fetal Brain Male	brain
12	chr11:46300200-46301000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:46300200-46301000	Active TSS	Lung	lung
14	chr11:46300200-46301000	Enhancers	A549	lung
15	chr11:46300200-46301400	Bivalent Enhancer	Brain Hippocampus Middle	brain
16	chr11:46300200-46301600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr11:46300200-46301600	Flanking Active TSS	Colonic Mucosa	Colon
18	chr11:46300200-46301600	Flanking Active TSS	Fetal Lung	lung
19	chr11:46300200-46301800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:46300200-46302600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:46300400-46301000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:46300400-46301000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr11:46300400-46301000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr11:46300400-46301000	Enhancers	Hela-S3	cervix
25	chr11:46300400-46301200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:46300400-46301200	Bivalent Enhancer	Brain Germinal Matrix	brain
27	chr11:46300400-46301200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr11:46300400-46301400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr11:46300400-46301600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:46300400-46301600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:46300400-46301600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr11:46300400-46301600	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr11:46300400-46301600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr11:46300400-46301600	Flanking Active TSS	K562	blood
35	chr11:46300400-46301800	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr11:46300400-46301800	Flanking Active TSS	NH-A	brain
37	chr11:46300400-46303800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:46300600-46301000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:46300600-46301000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
40	chr11:46300600-46301000	Enhancers	Colon Smooth Muscle	Colon
41	chr11:46300600-46301000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
42	chr11:46300600-46301200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr11:46300600-46301200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:46300600-46301200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:46300600-46301200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:46300600-46301200	Flanking Active TSS	Left Ventricle	heart
47	chr11:46300600-46301200	Flanking Active TSS	HSMMtube	muscle
48	chr11:46300600-46301400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:46300600-46301400	Flanking Active TSS	NHLF	lung
50	chr11:46300600-46301600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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