Variant report

Variant	rs372987243
Chromosome Location	chr11:17401644-17401645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:17401458-17401649	K562	blood:	n/a	n/a
2	POLR2A	chr11:17401395-17401806	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:17400201-17401965	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:17401327-17401650	K562	blood:	n/a	n/a
5	POLR2A	chr11:17399194-17402032	K562	blood:	n/a	n/a
6	POLR2A	chr11:17401363-17402041	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17401527..17405179-chr11:17405771..17408702,5	K562	blood:
2	chr11:17392236..17395328-chr11:17396635..17401653,4	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000260196	TF binding region
ENSG00000187486	Chromatin interaction

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	chr11:17394200-17401800	Strong transcription	HepG2	liver
2	chr11:17394200-17407600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:17394400-17402600	Weak transcription	HUVEC	blood vessel
4	chr11:17394400-17403600	Weak transcription	NHLF	lung
5	chr11:17394400-17405000	Weak transcription	Brain Angular Gyrus	brain
6	chr11:17394400-17410200	Weak transcription	A549	lung
7	chr11:17395000-17402600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:17395200-17402400	Weak transcription	NHDF-Ad	bronchial
9	chr11:17395200-17402600	Weak transcription	Osteobl	bone
10	chr11:17395200-17405200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:17395200-17405800	Weak transcription	Gastric	stomach
12	chr11:17395200-17410200	Weak transcription	Thymus	Thymus
13	chr11:17395600-17406200	Weak transcription	Pancreas	Pancrea
14	chr11:17395600-17410200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:17395600-17410400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:17395800-17403600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr11:17395800-17405200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:17395800-17405400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:17395800-17405400	Weak transcription	Left Ventricle	heart
20	chr11:17395800-17409200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:17396000-17408800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:17396400-17402000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:17396600-17404600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:17396600-17410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:17397200-17404800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:17397200-17407800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:17397400-17402800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:17398200-17410200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:17398400-17405400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:17398800-17410200	Weak transcription	Primary T cells from cord blood	blood
31	chr11:17399000-17404600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:17399200-17404200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:17400000-17402000	Enhancers	Esophagus	oesophagus
34	chr11:17400200-17401800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr11:17400400-17402400	Strong transcription	Fetal Intestine Large	intestine
36	chr11:17400600-17402000	Enhancers	HMEC	breast
37	chr11:17400600-17404200	Weak transcription	Ovary	ovary
38	chr11:17400600-17408000	Strong transcription	Fetal Intestine Small	intestine
39	chr11:17400600-17408800	Weak transcription	Brain Germinal Matrix	brain
40	chr11:17400800-17401800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:17400800-17403800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:17400800-17407200	Weak transcription	Fetal Brain Female	brain
43	chr11:17400800-17410200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:17401000-17405600	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:17401000-17410200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:17401200-17401800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:17401200-17401800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:17401200-17401800	Genic enhancers	NHEK	skin
49	chr11:17401200-17402600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:17401200-17402600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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