Variant report

Variant	rs7988827
Chromosome Location	chr13:111274382-111274383
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111211377..111214970-chr13:111273880..111276435,4	MCF-7	breast:
2	chr13:111248410..111250824-chr13:111273874..111275589,2	MCF-7	breast:
3	chr13:111272905..111274580-chr13:111366963..111368758,2	MCF-7	breast:
4	chr13:111265984..111270011-chr13:111270710..111274775,8	MCF-7	breast:
5	chr13:111265898..111273230-chr13:111273500..111281065,16	MCF-7	breast:
6	chr13:111271645..111274603-chr13:111290397..111292824,3	MCF-7	breast:
7	chr13:111266306..111273367-chr13:111274094..111280494,12	K562	blood:
8	chr13:111271154..111277326-chr13:111363993..111367812,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255831	Chromatin interaction
ENSG00000213995	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000139832	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs7327168	1.00[AMR][1000 genomes]
rs7984349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7985229	0.85[AMR][1000 genomes]
rs8002843	0.85[AMR][1000 genomes]
rs9583517	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
4	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv901010	chr13:111165390-111286592	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS 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	25 gene(s)	inside rSNPs	diseases
7	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv901011	chr13:111168951-111280002	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
12	nsv901012	chr13:111220842-111340342	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv1038089	chr13:111229517-111274823	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
14	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
15	nsv563123	chr13:111237260-111292044	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
16	nsv525124	chr13:111261267-111280002	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
17	nsv563124	chr13:111261267-111300943	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
18	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111269000-111277000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:111269000-111277600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:111269000-111287000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:111269200-111274600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr13:111269400-111274600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:111269400-111274600	Weak transcription	Aorta	Aorta
7	chr13:111269400-111274800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr13:111269400-111275000	Weak transcription	Esophagus	oesophagus
9	chr13:111269400-111275000	Weak transcription	Gastric	stomach
10	chr13:111269400-111275000	Weak transcription	Spleen	Spleen
11	chr13:111269400-111275000	Weak transcription	A549	lung
12	chr13:111269400-111275200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:111269400-111286600	Weak transcription	Fetal Brain Male	brain
14	chr13:111269400-111287200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr13:111269600-111274600	Weak transcription	Primary B cells from cord blood	blood
16	chr13:111269600-111274600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr13:111269600-111274800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr13:111269600-111275000	Weak transcription	Fetal Brain Female	brain
19	chr13:111269600-111275200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr13:111269600-111277200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:111269600-111279800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr13:111269800-111274400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr13:111270000-111274600	Weak transcription	Thymus	Thymus
24	chr13:111270200-111274600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr13:111270200-111274800	Weak transcription	Primary T cells from cord blood	blood
26	chr13:111270200-111274800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:111270200-111275000	Weak transcription	HSMMtube	muscle
28	chr13:111270400-111274400	Weak transcription	Hela-S3	cervix
29	chr13:111270400-111274600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr13:111270400-111274600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:111270400-111274600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr13:111270400-111274600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:111270400-111274600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:111270400-111274600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr13:111270400-111274600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr13:111270400-111274600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:111270400-111274600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr13:111270400-111274600	Weak transcription	Adipose Nuclei	Adipose
39	chr13:111270400-111274600	Weak transcription	Brain Angular Gyrus	brain
40	chr13:111270400-111274600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr13:111270400-111274600	Weak transcription	Colonic Mucosa	Colon
42	chr13:111270400-111274600	Weak transcription	Fetal Lung	lung
43	chr13:111270400-111274600	Weak transcription	Fetal Muscle Leg	muscle
44	chr13:111270400-111274600	Weak transcription	Placenta	Placenta
45	chr13:111270400-111274600	Weak transcription	Fetal Thymus	thymus
46	chr13:111270400-111274600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr13:111270400-111274600	Weak transcription	HUVEC	blood vessel
48	chr13:111270400-111274800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr13:111270400-111274800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr13:111270400-111274800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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