Variant report

Variant	rs73519181
Chromosome Location	chr9:94666197-94666198
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94664745..94669992-chr9:94681267..94685780,5	K562	blood:
2	chr9:94658208..94667163-chr9:94705322..94714120,17	K562	blood:
3	chr9:94650894..94652826-chr9:94665751..94669153,3	K562	blood:

Variant related genes	Relation type
ENSG00000169071	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2049704	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2049705	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3858082	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6479381	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6479382	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7032998	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7046846	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7048052	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73519162	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73519164	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73519170	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73519172	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73519174	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7857164	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7857924	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7866188	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7872177	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7873326	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7875069	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7875147	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3347273	chr9:94666131-94669029	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94658000-94667400	Enhancers	Fetal Lung	lung
2	chr9:94658200-94666200	Enhancers	Fetal Kidney	kidney
3	chr9:94659600-94668400	Enhancers	Colon Smooth Muscle	Colon
4	chr9:94660200-94666200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr9:94661200-94666600	Enhancers	Fetal Stomach	stomach
6	chr9:94662200-94669400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:94662800-94666600	Weak transcription	Colonic Mucosa	Colon
8	chr9:94662800-94668000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:94662800-94668400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:94662800-94668400	Weak transcription	Spleen	Spleen
11	chr9:94663000-94667000	Weak transcription	Esophagus	oesophagus
12	chr9:94663000-94668400	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:94663000-94668400	Weak transcription	Right Atrium	heart
14	chr9:94663400-94667600	Weak transcription	Fetal Brain Male	brain
15	chr9:94663400-94668400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr9:94663600-94667600	Enhancers	Pancreas	Pancrea
17	chr9:94663600-94668400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr9:94664000-94667800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:94664200-94666200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr9:94664400-94666200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:94664400-94668200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:94664600-94666800	Enhancers	Placenta	Placenta
23	chr9:94664800-94669600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr9:94665000-94667000	Enhancers	Fetal Intestine Small	intestine
25	chr9:94665000-94667800	Weak transcription	Brain Anterior Caudate	brain
26	chr9:94665000-94668200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr9:94665200-94666600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:94665200-94666600	Weak transcription	Gastric	stomach
29	chr9:94665200-94666800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:94665200-94666800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr9:94665200-94667600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr9:94665200-94667600	Weak transcription	Small Intestine	intestine
33	chr9:94665200-94668200	Enhancers	Stomach Smooth Muscle	stomach
34	chr9:94665400-94666600	Weak transcription	Fetal Thymus	thymus
35	chr9:94665400-94667000	Enhancers	Fetal Intestine Large	intestine
36	chr9:94665400-94668400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr9:94665400-94669600	Weak transcription	Ovary	ovary
38	chr9:94665600-94666400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:94665600-94666800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:94665600-94667000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr9:94665800-94666200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr9:94665800-94666200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr9:94665800-94666600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr9:94665800-94666600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr9:94665800-94667000	Weak transcription	Fetal Heart	heart
46	chr9:94665800-94668400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:94665800-94669600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:94666000-94666200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr9:94666000-94666200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:94666000-94666400	Weak transcription	Fetal Muscle Leg	muscle

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