Variant report

Variant	rs548590031
Chromosome Location	chr1:247093730-247093731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247092592..247095168-chr1:247240880..247243272,2	K562	blood:
2	chr1:247093657..247096650-chr1:247335096..247337981,2	K562	blood:
3	chr1:247046300..247048217-chr1:247091357..247094558,3	K562	blood:
4	chr1:247092059..247094068-chr1:247274280..247275871,2	K562	blood:
5	chr1:247056860..247058918-chr1:247092602..247094534,2	MCF-7	breast:
6	chr1:247093628..247096678-chr1:247168698..247172076,4	MCF-7	breast:
7	chr1:247092987..247095907-chr22:39713891..39716269,2	K562	blood:
8	chr1:247093046..247095250-chr1:247265472..247268873,4	MCF-7	breast:
9	chr1:247092146..247096759-chr1:247274350..247278356,6	MCF-7	breast:
10	chr1:247093552..247097819-chr1:247240197..247243590,5	MCF-7	breast:
11	chr1:247092220..247095330-chr1:247240373..247243272,3	K562	blood:
12	chr1:247092719..247096472-chr1:247266171..247268660,3	MCF-7	breast:
13	chr1:246871057..246874045-chr1:247092351..247094206,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221953	Chromatin interaction
ENSG00000135747	Chromatin interaction
ENSG00000197472	Chromatin interaction
ENSG00000196418	Chromatin interaction
ENSG00000263764	Chromatin interaction
ENSG00000188295	Chromatin interaction
ENSG00000100316	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1000602	chr1:247044627-247226568	Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv873425	chr1:247069514-247156066	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv873426	chr1:247069514-247162628	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	esv3438502	chr1:247093554-247096502	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247069800-247093800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:247089600-247093800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:247092800-247093800	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr1:247092800-247094000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:247092800-247094000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:247092800-247095800	Active TSS	A549	lung
7	chr1:247093000-247093800	Enhancers	Small Intestine	intestine
8	chr1:247093000-247095800	Active TSS	HSMM	muscle
9	chr1:247093000-247096200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:247093000-247096200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:247093000-247096200	Active TSS	GM12878-XiMat	blood
12	chr1:247093200-247094400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr1:247093200-247094400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr1:247093200-247095800	Active TSS	Ovary	ovary
15	chr1:247093400-247093800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
16	chr1:247093400-247093800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:247093400-247093800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:247093400-247093800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr1:247093400-247093800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:247093400-247093800	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:247093400-247093800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr1:247093400-247093800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:247093400-247093800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:247093400-247093800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:247093400-247093800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:247093400-247093800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr1:247093400-247093800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:247093400-247093800	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr1:247093400-247093800	Enhancers	Fetal Muscle Trunk	muscle
30	chr1:247093400-247093800	Flanking Active TSS	Left Ventricle	heart
31	chr1:247093400-247093800	Enhancers	Lung	lung
32	chr1:247093400-247093800	Enhancers	Pancreas	Pancrea
33	chr1:247093400-247093800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr1:247093400-247093800	Enhancers	Spleen	Spleen
35	chr1:247093400-247093800	Flanking Active TSS	Hela-S3	cervix
36	chr1:247093400-247093800	Flanking Active TSS	HUVEC	blood vessel
37	chr1:247093400-247093800	Flanking Active TSS	NH-A	brain
38	chr1:247093400-247094000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:247093400-247094000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr1:247093400-247094000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:247093400-247094000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:247093400-247094000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr1:247093400-247094000	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr1:247093400-247094000	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr1:247093400-247094000	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr1:247093400-247094000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:247093400-247094000	Flanking Active TSS	Fetal Lung	lung
48	chr1:247093400-247094000	Flanking Active TSS	Placenta	Placenta
49	chr1:247093400-247094000	Enhancers	Gastric	stomach
50	chr1:247093400-247094000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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