Variant report

Variant	rs73501259
Chromosome Location	chr9:104248675-104248676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:104246363..104248786-chr9:104290917..104293044,2	K562	blood:
2	chr1:203274188..203274753-chr9:104248230..104248847,2	Hela-S3	cervix:
3	chr20:35233831..35234522-chr9:104248273..104248833,2	Hela-S3	cervix:
4	chr9:104230694..104236463-chr9:104246967..104249431,5	K562	blood:
5	chr9:104159029..104163428-chr9:104247830..104250587,4	K562	blood:

Variant related genes	Relation type
ENSG00000101084	Chromatin interaction
ENSG00000136897	Chromatin interaction
ENSG00000233791	Chromatin interaction
ENSG00000159388	Chromatin interaction
ENSG00000136870	Chromatin interaction
ENSG00000225376	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73501253	0.87[AFR][1000 genomes]
rs73501261	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104247600-104249600	Active TSS	K562	blood
2	chr9:104247600-104250000	Active TSS	Brain Angular Gyrus	brain
3	chr9:104247600-104250200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:104247800-104249000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr9:104247800-104249200	Active TSS	Colonic Mucosa	Colon
6	chr9:104247800-104249600	Active TSS	Colon Smooth Muscle	Colon
7	chr9:104247800-104249600	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr9:104247800-104249800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr9:104247800-104249800	Active TSS	Right Atrium	heart
10	chr9:104247800-104250000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:104247800-104250000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr9:104248000-104248800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr9:104248000-104249200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr9:104248000-104249400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr9:104248000-104249400	Active TSS	Muscle Satellite Cultured Cells	--
16	chr9:104248000-104249400	Active TSS	Brain Hippocampus Middle	brain
17	chr9:104248000-104249600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:104248000-104249600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr9:104248000-104249600	Active TSS	Fetal Intestine Large	intestine
20	chr9:104248000-104249600	Active TSS	Fetal Intestine Small	intestine
21	chr9:104248000-104249600	Active TSS	Hela-S3	cervix
22	chr9:104248000-104249800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr9:104248000-104249800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:104248000-104249800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:104248000-104249800	Active TSS	Brain Anterior Caudate	brain
26	chr9:104248000-104249800	Active TSS	Brain Cingulate Gyrus	brain
27	chr9:104248000-104249800	Active TSS	Duodenum Mucosa	Duodenum
28	chr9:104248000-104249800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr9:104248000-104249800	Active TSS	Ovary	ovary
30	chr9:104248000-104250000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:104248000-104250000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr9:104248000-104250000	Active TSS	Rectal Smooth Muscle	rectum
33	chr9:104248000-104250000	Active TSS	Stomach Mucosa	stomach
34	chr9:104248200-104248800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
35	chr9:104248200-104249000	Active TSS	Esophagus	oesophagus
36	chr9:104248200-104249000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
37	chr9:104248200-104249200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr9:104248200-104249200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:104248200-104249200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
40	chr9:104248200-104249200	Bivalent/Poised TSS	Fetal Thymus	thymus
41	chr9:104248200-104249400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr9:104248200-104249400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:104248200-104249400	Active TSS	Small Intestine	intestine
44	chr9:104248200-104249600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:104248200-104249600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr9:104248200-104249600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:104248200-104249600	Active TSS	Gastric	stomach
48	chr9:104248200-104249600	Active TSS	Left Ventricle	heart
49	chr9:104248200-104249600	Active TSS	A549	lung
50	chr9:104248200-104249800	Active TSS	H9 Cell Line	embryonic stem cell

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