Variant report

Variant	rs547663108
Chromosome Location	chr11:17401304-17401305
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:17400201-17401965	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:17399194-17402032	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17392236..17395328-chr11:17396635..17401653,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP1-239B22.1.1-1	chr11:17401302-17401911	NONHSAT018227

Variant related genes	Relation type
ENSG00000260196	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv517772	chr11:17401134-17427862	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17394200-17401600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:17394200-17401800	Strong transcription	HepG2	liver
3	chr11:17394200-17407600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:17394400-17402600	Weak transcription	HUVEC	blood vessel
5	chr11:17394400-17403600	Weak transcription	NHLF	lung
6	chr11:17394400-17405000	Weak transcription	Brain Angular Gyrus	brain
7	chr11:17394400-17410200	Weak transcription	A549	lung
8	chr11:17394600-17401600	Strong transcription	K562	blood
9	chr11:17395000-17402600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:17395200-17402400	Weak transcription	NHDF-Ad	bronchial
11	chr11:17395200-17402600	Weak transcription	Osteobl	bone
12	chr11:17395200-17405200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:17395200-17405800	Weak transcription	Gastric	stomach
14	chr11:17395200-17410200	Weak transcription	Thymus	Thymus
15	chr11:17395600-17406200	Weak transcription	Pancreas	Pancrea
16	chr11:17395600-17410200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:17395600-17410400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:17395800-17403600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr11:17395800-17405200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr11:17395800-17405400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:17395800-17405400	Weak transcription	Left Ventricle	heart
22	chr11:17395800-17409200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:17396000-17408800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:17396400-17402000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:17396600-17404600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr11:17396600-17410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:17397200-17404800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:17397200-17407800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:17397400-17402800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:17398200-17410200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:17398400-17405400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:17398800-17410200	Weak transcription	Primary T cells from cord blood	blood
33	chr11:17399000-17401600	ZNF genes & repeats	Dnd41	blood
34	chr11:17399000-17404600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:17399200-17404200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr11:17399800-17401600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:17400000-17401400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:17400000-17402000	Enhancers	Esophagus	oesophagus
39	chr11:17400200-17401600	Strong transcription	Hela-S3	cervix
40	chr11:17400200-17401600	Strong transcription	HSMM	muscle
41	chr11:17400200-17401800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr11:17400400-17402400	Strong transcription	Fetal Intestine Large	intestine
43	chr11:17400600-17402000	Enhancers	HMEC	breast
44	chr11:17400600-17404200	Weak transcription	Ovary	ovary
45	chr11:17400600-17408000	Strong transcription	Fetal Intestine Small	intestine
46	chr11:17400600-17408800	Weak transcription	Brain Germinal Matrix	brain
47	chr11:17400800-17401800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:17400800-17403800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:17400800-17407200	Weak transcription	Fetal Brain Female	brain
50	chr11:17400800-17410200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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