Variant report

Variant	rs191802152
Chromosome Location	chr1:247093920-247093921
allele	C/G
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 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	chr1:247093791..247096097-chr1:247493835..247497465,5	K562	blood:
6	chr1:247056860..247058918-chr1:247092602..247094534,2	MCF-7	breast:
7	chr1:247093628..247096678-chr1:247168698..247172076,4	MCF-7	breast:
8	chr1:247092987..247095907-chr22:39713891..39716269,2	K562	blood:
9	chr1:247093046..247095250-chr1:247265472..247268873,4	MCF-7	breast:
10	chr1:247093731..247095297-chr1:247494500..247497465,3	K562	blood:
11	chr1:247092146..247096759-chr1:247274350..247278356,6	MCF-7	breast:
12	chr1:247093552..247097819-chr1:247240197..247243590,5	MCF-7	breast:
13	chr1:247092220..247095330-chr1:247240373..247243272,3	K562	blood:
14	chr1:247093881..247096879-chr1:247169993..247171703,3	K562	blood:
15	chr1:247092719..247096472-chr1:247266171..247268660,3	MCF-7	breast:
16	chr1:246871057..246874045-chr1:247092351..247094206,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135747	Chromatin interaction
ENSG00000188295	Chromatin interaction
ENSG00000100316	Chromatin interaction
ENSG00000196418	Chromatin interaction
ENSG00000197472	Chromatin interaction
ENSG00000263764	Chromatin interaction
ENSG00000221953	Chromatin interaction
ENSG00000162714	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	chr1:247092800-247094000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr1:247092800-247094000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:247092800-247095800	Active TSS	A549	lung
4	chr1:247093000-247095800	Active TSS	HSMM	muscle
5	chr1:247093000-247096200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:247093000-247096200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:247093000-247096200	Active TSS	GM12878-XiMat	blood
8	chr1:247093200-247094400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr1:247093200-247094400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr1:247093200-247095800	Active TSS	Ovary	ovary
11	chr1:247093400-247094000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:247093400-247094000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr1:247093400-247094000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:247093400-247094000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:247093400-247094000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr1:247093400-247094000	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr1:247093400-247094000	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr1:247093400-247094000	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr1:247093400-247094000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:247093400-247094000	Flanking Active TSS	Fetal Lung	lung
21	chr1:247093400-247094000	Flanking Active TSS	Placenta	Placenta
22	chr1:247093400-247094000	Enhancers	Gastric	stomach
23	chr1:247093400-247094000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:247093400-247094000	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr1:247093400-247094000	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr1:247093400-247094000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr1:247093400-247094000	Enhancers	Stomach Mucosa	stomach
28	chr1:247093400-247094000	Flanking Active TSS	Thymus	Thymus
29	chr1:247093400-247094000	Flanking Active TSS	Osteobl	bone
30	chr1:247093400-247094200	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr1:247093400-247094200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:247093400-247094200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:247093400-247094200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:247093400-247094200	Flanking Active TSS	Fetal Stomach	stomach
35	chr1:247093400-247094200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr1:247093400-247094200	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr1:247093400-247094400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
38	chr1:247093400-247094400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr1:247093400-247094400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:247093400-247094400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr1:247093400-247094400	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr1:247093400-247094400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr1:247093400-247094600	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr1:247093400-247094600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr1:247093400-247095800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:247093400-247095800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:247093400-247095800	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:247093400-247096000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:247093400-247096000	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr1:247093400-247096000	Active TSS	HUES64 Cell Line	embryonic stem cell

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