Variant report

Variant	rs554612929
Chromosome Location	chr11:66099041-66099042
allele	G/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:7)
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	chr11:66098066-66099515	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:66097286-66099531	U87	brain:	n/a	n/a
4	POLR2A	chr11:66095435-66099531	U87	brain:	n/a	n/a
5	POLR2A	chr11:66094133-66099963	U87	brain:	n/a	n/a
6	POLR2A	chr11:66094758-66099273	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:66098423-66099064	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 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	chr11:66096831..66099072-chr11:66133272..66136044,2	MCF-7	breast:
5	chr11:66054900..66056693-chr11:66099016..66101180,2	K562	blood:
6	chr11:66078237..66081093-chr11:66098609..66103641,6	K562	blood:
7	chr11:65623324..65625591-chr11:66098179..66100735,2	K562	blood:

No data

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:94 , 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	chr11:66096400-66099200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:66096400-66099200	Weak transcription	Brain Anterior Caudate	brain
8	chr11:66096400-66099200	Weak transcription	Esophagus	oesophagus
9	chr11:66096400-66099200	Weak transcription	Fetal Intestine Large	intestine
10	chr11:66096400-66099200	Weak transcription	Gastric	stomach
11	chr11:66096400-66099200	Weak transcription	Lung	lung
12	chr11:66096400-66099400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:66096400-66099400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:66096400-66099600	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:66096400-66099600	Weak transcription	Ovary	ovary
16	chr11:66096400-66099600	Weak transcription	Right Ventricle	heart
17	chr11:66096400-66099600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:66096400-66099800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:66096400-66099800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:66096400-66099800	Weak transcription	Colonic Mucosa	Colon
21	chr11:66096400-66099800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:66096400-66100000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:66096400-66100000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:66096400-66100200	Weak transcription	Pancreas	Pancrea
25	chr11:66096400-66101000	Weak transcription	Brain Angular Gyrus	brain
26	chr11:66096400-66101600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:66096400-66102400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:66096400-66102400	Weak transcription	HSMM	muscle
29	chr11:66096400-66102600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:66096400-66102600	Weak transcription	HSMMtube	muscle
31	chr11:66096400-66102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:66096400-66102800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:66096400-66102800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:66096400-66102800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:66096400-66102800	Weak transcription	Left Ventricle	heart
36	chr11:66096400-66102800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:66096400-66102800	Weak transcription	Right Atrium	heart
38	chr11:66096400-66103000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr11:66096400-66103000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:66096400-66104400	Weak transcription	Dnd41	blood
41	chr11:66096600-66099200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:66096600-66099200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:66096600-66099200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:66096600-66099400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:66096600-66099400	Weak transcription	Spleen	Spleen
46	chr11:66096600-66099600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:66096600-66099800	Weak transcription	Adipose Nuclei	Adipose
48	chr11:66096600-66100000	Weak transcription	Placenta	Placenta
49	chr11:66096600-66100200	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:66096600-66101800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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