Variant report

Variant	rs73181323
Chromosome Location	chr5:90174003-90174004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90173755..90175259-chr5:90677561..90680061,2	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs6872705	1.00[AMR][1000 genomes]
rs715668	1.00[AMR][1000 genomes]
rs73175296	1.00[AMR][1000 genomes]
rs73175300	1.00[AMR][1000 genomes]
rs73177408	1.00[AMR][1000 genomes]
rs73177413	1.00[AMR][1000 genomes]
rs73177422	1.00[AMR][1000 genomes]
rs73177427	1.00[AMR][1000 genomes]
rs73179309	1.00[AMR][1000 genomes]
rs73179321	1.00[AMR][1000 genomes]
rs73179328	1.00[AMR][1000 genomes]
rs73179329	1.00[AMR][1000 genomes]
rs73179336	1.00[AMR][1000 genomes]
rs73179340	1.00[AMR][1000 genomes]
rs73179343	1.00[AMR][1000 genomes]
rs73179344	1.00[AMR][1000 genomes]
rs73179354	1.00[AMR][1000 genomes]
rs73181318	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73181321	1.00[AMR][1000 genomes]
rs73181330	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7737712	1.00[AMR][1000 genomes]
rs949788	1.00[AMR][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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv882367	chr5:89956991-90209824	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv1015449	chr5:89968626-90219398	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90112000-90175800	Weak transcription	Fetal Brain Female	brain
2	chr5:90151800-90174600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:90163600-90194400	Weak transcription	Pancreas	Pancrea
4	chr5:90164400-90174400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:90164400-90174800	Enhancers	Liver	Liver
6	chr5:90165400-90188800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:90166600-90174600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:90168200-90186000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:90169000-90174200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:90169200-90174200	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:90169200-90174600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:90170200-90174200	Weak transcription	Ovary	ovary
13	chr5:90171400-90175000	Enhancers	Fetal Lung	lung
14	chr5:90171600-90177600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:90172600-90174400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:90172600-90179000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:90172600-90184400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:90172800-90174400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:90173000-90174200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:90173000-90174400	Weak transcription	Small Intestine	intestine
21	chr5:90173000-90175000	Weak transcription	Fetal Intestine Small	intestine
22	chr5:90173000-90175000	Enhancers	Fetal Stomach	stomach
23	chr5:90173200-90174200	Weak transcription	A549	lung
24	chr5:90173200-90174400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr5:90173200-90175200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:90173400-90174800	Weak transcription	HepG2	liver
27	chr5:90173600-90175200	Enhancers	Primary hematopoietic stem cells	blood
28	chr5:90173600-90175200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:90173800-90174400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr5:90173800-90174600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:90173800-90175200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:90173800-90175200	Enhancers	Stomach Mucosa	stomach
33	chr5:90173800-90175400	Enhancers	HUVEC	blood vessel
34	chr5:90174000-90174200	Enhancers	Brain Anterior Caudate	brain
35	chr5:90174000-90174200	Enhancers	Lung	lung
36	chr5:90174000-90174400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr5:90174000-90174600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:90174000-90174600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:90174000-90174800	Enhancers	Rectal Smooth Muscle	rectum
40	chr5:90174000-90175000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:90174000-90175000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr5:90174000-90175000	Enhancers	Psoas Muscle	Psoas
43	chr5:90174000-90175000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr5:90174000-90175000	Genic enhancers	K562	blood
45	chr5:90174000-90175200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr5:90174000-90175200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:90174000-90175200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:90174000-90175200	Enhancers	Adipose Nuclei	Adipose
49	chr5:90174000-90177200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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