Variant report

Variant	rs112869547
Chromosome Location	chr1:92717907-92717908
allele	C/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	CEBPB	chr1:92717841-92718018	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr1:92717829-92717929	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
GLMN	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1794222	chr1:92711407-92735359	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv518196	chr1:92717666-92727140	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92705600-92726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:92705800-92729200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:92707200-92764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:92708200-92741200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:92709000-92718800	Weak transcription	Lung	lung
6	chr1:92709000-92737200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:92709000-92762800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:92709200-92718800	Weak transcription	Pancreas	Pancrea
9	chr1:92709400-92735800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:92709600-92730800	Weak transcription	Hela-S3	cervix
11	chr1:92710000-92737600	Weak transcription	HSMM	muscle
12	chr1:92710000-92745200	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:92710200-92718000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:92710200-92718800	Weak transcription	Left Ventricle	heart
15	chr1:92710200-92718800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:92710200-92739400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:92710400-92718600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr1:92710400-92724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:92710600-92718400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:92710600-92718400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:92710600-92718600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:92710600-92718800	Weak transcription	Aorta	Aorta
23	chr1:92710600-92718800	Weak transcription	Fetal Intestine Small	intestine
24	chr1:92710600-92718800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:92710600-92719000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:92710600-92725000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:92710600-92726000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:92710600-92726200	Weak transcription	Right Ventricle	heart
29	chr1:92710600-92726200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:92710600-92726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:92710600-92753200	Weak transcription	Small Intestine	intestine
32	chr1:92710600-92762000	Weak transcription	Fetal Brain Male	brain
33	chr1:92710600-92763400	Weak transcription	Brain Angular Gyrus	brain
34	chr1:92710600-92764000	Weak transcription	Gastric	stomach
35	chr1:92710800-92718800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:92710800-92726800	Weak transcription	NH-A	brain
37	chr1:92711000-92720600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:92711000-92721600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:92711000-92763600	Weak transcription	HSMMtube	muscle
40	chr1:92711200-92718400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:92711200-92718400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:92711200-92718600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:92711200-92718800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:92711200-92726400	Weak transcription	A549	lung
45	chr1:92711200-92727000	Weak transcription	HepG2	liver
46	chr1:92711200-92738200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:92711200-92742800	Weak transcription	NHLF	lung
48	chr1:92711200-92761600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:92711200-92764000	Weak transcription	Spleen	Spleen
50	chr1:92712200-92720200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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