Variant report

Variant	rs2519114
Chromosome Location	chr9:136823781-136823782
allele	A/C
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	chr9:136819142..136821965-chr9:136822895..136826242,3	K562	blood:
2	chr9:136822394..136827953-chr9:136855901..136860268,9	MCF-7	breast:
3	chr9:136734394..136737190-chr9:136823584..136826132,2	MCF-7	breast:
4	chr9:136821303..136824220-chr9:136826571..136828241,2	MCF-7	breast:
5	chr9:136821904..136824368-chr9:136852633..136855112,2	MCF-7	breast:
6	chr9:136817340..136820147-chr9:136822604..136825397,2	MCF-7	breast:
7	chr9:136815263..136820961-chr9:136821414..136825553,6	MCF-7	breast:
8	chr9:136737400..136743457-chr9:136819359..136829756,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2073829	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2073884	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2428005	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2519796	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2519797	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2519807	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2519810	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2519822	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2789857	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2789858	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2789859	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2789860	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2789862	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894123	chr9:136682408-136852501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv894124	chr9:136716399-136870787	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv894128	chr9:136753246-136906752	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1046310	chr9:136762829-136872226	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv894130	chr9:136767346-136906752	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv831748	chr9:136788484-136944326	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats 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	30 gene(s)	inside rSNPs	diseases
8	nsv894131	chr9:136792765-136906752	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv466626	chr9:136807770-136835343	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv615742	chr9:136807770-136835343	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv831749	chr9:136809200-136915764	Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv894132	chr9:136813341-136950691	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
13	nsv982642	chr9:136819005-136837069	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2761297	chr9:136819288-136825744	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136817000-136824400	Weak transcription	HepG2	liver
2	chr9:136821000-136823800	Enhancers	NHEK	skin
3	chr9:136821400-136823800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:136821800-136823800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr9:136821800-136828600	Enhancers	Primary B cells from cord blood	blood
6	chr9:136822000-136824000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:136822400-136823800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:136822400-136823800	Weak transcription	Primary T cells from cord blood	blood
9	chr9:136822400-136823800	Weak transcription	Fetal Kidney	kidney
10	chr9:136822400-136823800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr9:136822400-136824000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:136822400-136824000	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:136822400-136824600	Weak transcription	Brain Angular Gyrus	brain
14	chr9:136822400-136828800	Enhancers	Primary B cells from peripheral blood	blood
15	chr9:136822600-136824000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:136822600-136824200	Weak transcription	Fetal Heart	heart
17	chr9:136822600-136825000	Weak transcription	Fetal Brain Male	brain
18	chr9:136822600-136825400	Weak transcription	Fetal Intestine Large	intestine
19	chr9:136822600-136825600	Weak transcription	Brain Anterior Caudate	brain
20	chr9:136822600-136837000	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:136822800-136823800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:136822800-136823800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:136822800-136823800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:136822800-136823800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:136822800-136823800	Weak transcription	Brain Germinal Matrix	brain
26	chr9:136822800-136823800	Weak transcription	Right Atrium	heart
27	chr9:136822800-136823800	Weak transcription	Stomach Mucosa	stomach
28	chr9:136822800-136823800	Weak transcription	A549	lung
29	chr9:136822800-136823800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr9:136822800-136824000	Weak transcription	Esophagus	oesophagus
31	chr9:136822800-136824000	Weak transcription	Fetal Stomach	stomach
32	chr9:136822800-136824000	Weak transcription	Gastric	stomach
33	chr9:136822800-136824000	Weak transcription	Ovary	ovary
34	chr9:136822800-136824000	Weak transcription	Right Ventricle	heart
35	chr9:136822800-136824000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr9:136822800-136824000	Weak transcription	Small Intestine	intestine
37	chr9:136822800-136824000	Weak transcription	NHLF	lung
38	chr9:136822800-136824200	Weak transcription	Liver	Liver
39	chr9:136822800-136824200	Weak transcription	Colonic Mucosa	Colon
40	chr9:136822800-136824400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr9:136822800-136824600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr9:136822800-136824800	Weak transcription	Brain Substantia Nigra	brain
43	chr9:136822800-136825400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:136822800-136825800	Enhancers	Hela-S3	cervix
45	chr9:136822800-136828200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr9:136822800-136836600	Weak transcription	NHDF-Ad	bronchial
47	chr9:136823000-136823800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:136823000-136823800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:136823000-136823800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:136823000-136823800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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