Variant report

Variant	rs7943794
Chromosome Location	chr11:66098173-66098174
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66098087-66098881	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:66098041-66098760	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:66098052-66098173	MCF-7	breast:	n/a	n/a
4	POLR2A	chr11:66097213-66100151	U87	brain:	n/a	n/a
5	POLR2A	chr11:66098066-66099515	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:66098158-66099002	HCT-116	colon:	n/a	n/a
7	POLR2A	chr11:66098149-66098184	ProgFib	skin:	n/a	n/a
8	POLR2A	chr11:66097641-66098174	K562	blood:	n/a	n/a
9	POLR2A	chr11:66097286-66099531	U87	brain:	n/a	n/a
10	POLR2A	chr11:66098173-66098908	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:66095435-66099531	U87	brain:	n/a	n/a
12	POLR2A	chr11:66097860-66098262	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:66097281-66098958	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr11:66094133-66099963	U87	brain:	n/a	n/a
15	POLR2A	chr11:66094758-66099273	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:66078962..66079655-chr11:66098111..66098921,2	K562	blood:
2	chr11:66076960..66082217-chr11:66092441..66098354,9	K562	blood:
3	chr11:66047213..66049788-chr11:66097470..66100241,3	K562	blood:
4	chr11:66096036..66100735-chr11:66109250..66113337,6	K562	blood:
5	chr11:66096831..66099072-chr11:66133272..66136044,2	MCF-7	breast:
6	chr11:66078330..66081708-chr11:66094461..66098902,4	MCF-7	breast:
7	chr11:66097476..66098221-chr11:66111385..66111891,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254756	TF binding region
ENSG00000174744	Chromatin interaction
ENSG00000254458	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1190626	1.00[ASN][1000 genomes]
rs12575852	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576868	1.00[EUR][1000 genomes]
rs12577589	1.00[EUR][1000 genomes]
rs2282532	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2298446	1.00[EUR][1000 genomes]
rs58244723	1.00[EUR][1000 genomes]
rs9787882	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:93 , 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	chr11:66096400-66098400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:66096400-66099000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:66096400-66099000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:66096400-66099000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:66096400-66099000	Weak transcription	Fetal Intestine Small	intestine
11	chr11:66096400-66099000	Weak transcription	HMEC	breast
12	chr11:66096400-66099200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:66096400-66099200	Weak transcription	Brain Anterior Caudate	brain
14	chr11:66096400-66099200	Weak transcription	Esophagus	oesophagus
15	chr11:66096400-66099200	Weak transcription	Fetal Intestine Large	intestine
16	chr11:66096400-66099200	Weak transcription	Gastric	stomach
17	chr11:66096400-66099200	Weak transcription	Lung	lung
18	chr11:66096400-66099400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:66096400-66099400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:66096400-66099600	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:66096400-66099600	Weak transcription	Ovary	ovary
22	chr11:66096400-66099600	Weak transcription	Right Ventricle	heart
23	chr11:66096400-66099600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:66096400-66099800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:66096400-66099800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:66096400-66099800	Weak transcription	Colonic Mucosa	Colon
27	chr11:66096400-66099800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:66096400-66100000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:66096400-66100000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:66096400-66100200	Weak transcription	Pancreas	Pancrea
31	chr11:66096400-66101000	Weak transcription	Brain Angular Gyrus	brain
32	chr11:66096400-66101600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:66096400-66102400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:66096400-66102400	Weak transcription	HSMM	muscle
35	chr11:66096400-66102600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:66096400-66102600	Weak transcription	HSMMtube	muscle
37	chr11:66096400-66102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:66096400-66102800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:66096400-66102800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:66096400-66102800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:66096400-66102800	Weak transcription	Left Ventricle	heart
42	chr11:66096400-66102800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:66096400-66102800	Weak transcription	Right Atrium	heart
44	chr11:66096400-66103000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:66096400-66103000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:66096400-66104400	Weak transcription	Dnd41	blood
47	chr11:66096600-66098600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:66096600-66098800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:66096600-66098800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:66096600-66098800	Weak transcription	Primary monocytes fromperipheralblood	blood

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