Variant report

Variant	rs548621329
Chromosome Location	chr11:66334835-66334836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66334310-66335059	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66333517..66336306-chr11:66404884..66407774,3	K562	blood:
2	chr11:66333502..66336819-chr11:66382812..66384536,3	K562	blood:
3	chr11:66334662..66337726-chr11:66444588..66447609,3	K562	blood:
4	chr11:66333502..66335839-chr11:66382927..66384488,2	K562	blood:
5	chr11:66333513..66337489-chr11:66382854..66385992,4	MCF-7	breast:
6	chr11:66333833..66336382-chr11:66443152..66446114,2	MCF-7	breast:

No data

Variant related genes	Relation type
CTSF	TF binding region
ENSG00000239306	Chromatin interaction
ENSG00000173933	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000173914	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv897788	chr11:66319262-66347850	Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv3376183	chr11:66334601-66337149	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66319000-66337800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:66326800-66335000	Weak transcription	Psoas Muscle	Psoas
3	chr11:66326800-66335000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:66326800-66335200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:66326800-66335200	Weak transcription	Esophagus	oesophagus
6	chr11:66326800-66335200	Weak transcription	Left Ventricle	heart
7	chr11:66326800-66335200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:66327000-66335200	Weak transcription	Fetal Heart	heart
9	chr11:66327200-66335000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:66327400-66335200	Weak transcription	Right Atrium	heart
11	chr11:66328000-66335000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:66329000-66335000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:66329400-66336600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:66330400-66335600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:66330400-66337800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:66330600-66336800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:66330800-66335000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:66330800-66336000	Weak transcription	Fetal Lung	lung
19	chr11:66331000-66335600	Weak transcription	Aorta	Aorta
20	chr11:66331200-66336600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:66331400-66335200	Weak transcription	Colonic Mucosa	Colon
22	chr11:66331400-66337800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:66331600-66337800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:66332000-66335600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:66332000-66336600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:66332200-66335400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:66332200-66335400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:66333600-66335000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:66333600-66335200	Weak transcription	Liver	Liver
30	chr11:66333600-66335200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:66333600-66335600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:66333800-66335200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:66333800-66335200	Weak transcription	Right Ventricle	heart
34	chr11:66334000-66335000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:66334000-66335200	Weak transcription	Lung	lung
36	chr11:66334400-66335000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:66334400-66335000	Enhancers	Fetal Muscle Trunk	muscle
38	chr11:66334400-66335000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:66334400-66335200	Genic enhancers	Ovary	ovary
40	chr11:66334600-66335000	Genic enhancers	Brain Hippocampus Middle	brain
41	chr11:66334600-66335000	Enhancers	Placenta	Placenta
42	chr11:66334600-66335200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr11:66334600-66335200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:66334600-66335400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:66334600-66336000	Enhancers	Fetal Brain Male	brain
46	chr11:66334800-66335000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:66334800-66335000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:66334800-66335000	Enhancers	Adipose Nuclei	Adipose
49	chr11:66334800-66335000	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
50	chr11:66334800-66335000	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain

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