Variant report

Variant	rs73317831
Chromosome Location	chr5:145552838-145552839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145525794..145527740-chr5:145551579..145553885,3	K562	blood:
2	chr5:145551052..145554687-chr5:145559207..145562583,5	K562	blood:
3	chr5:145544700..145547234-chr5:145551344..145553851,2	K562	blood:
4	chr5:145549719..145552981-chr5:145557063..145560291,4	MCF-7	breast:
5	chr5:145551306..145553774-chr5:145557195..145559625,2	K562	blood:
6	chr5:145551516..145553977-chr5:145559737..145562085,2	K562	blood:

Variant related genes	Relation type
ENSG00000133706	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10068337	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56791671	1.00[AMR][1000 genomes]
rs73313961	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73313970	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73313975	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73313996	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315750	0.94[AFR][1000 genomes]
rs73315778	1.00[AMR][1000 genomes]
rs73315794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317836	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317844	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317870	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3348501	chr5:145543808-145572250	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145481200-145560200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:145491000-145553800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:145491000-145560200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:145491200-145560200	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:145491200-145560200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:145491200-145560800	Weak transcription	Stomach Mucosa	stomach
7	chr5:145491400-145560000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:145491400-145560400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:145491600-145557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:145491600-145559800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:145492200-145560200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:145495800-145559200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:145499000-145557400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:145511600-145556800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:145515800-145557400	Strong transcription	Liver	Liver
16	chr5:145517000-145553000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:145519200-145558200	Strong transcription	Dnd41	blood
18	chr5:145526200-145553000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr5:145526800-145554000	Strong transcription	Adipose Nuclei	Adipose
20	chr5:145532200-145559600	Weak transcription	Small Intestine	intestine
21	chr5:145532200-145561000	Weak transcription	Esophagus	oesophagus
22	chr5:145534800-145553400	Strong transcription	NHDF-Ad	bronchial
23	chr5:145535200-145559600	Strong transcription	Fetal Muscle Leg	muscle
24	chr5:145535400-145553600	Strong transcription	Osteobl	bone
25	chr5:145535600-145559600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:145536400-145553800	Strong transcription	K562	blood
27	chr5:145537800-145560800	Weak transcription	Fetal Heart	heart
28	chr5:145541000-145560400	Weak transcription	Right Atrium	heart
29	chr5:145541600-145553600	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:145542400-145556000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr5:145542600-145559600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:145542600-145560200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:145542600-145560400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:145542600-145560600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:145542800-145559600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:145542800-145561200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr5:145543000-145560200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:145543600-145560400	Weak transcription	Brain Angular Gyrus	brain
39	chr5:145544000-145560400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:145544000-145560400	Weak transcription	Psoas Muscle	Psoas
41	chr5:145544600-145559400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr5:145545600-145557400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:145545800-145557800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:145546200-145558200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:145546200-145560200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr5:145546200-145560400	Weak transcription	Pancreas	Pancrea
47	chr5:145546400-145558800	Weak transcription	Brain Germinal Matrix	brain
48	chr5:145546800-145559000	Weak transcription	Fetal Brain Male	brain
49	chr5:145547000-145561000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr5:145547200-145557400	Strong transcription	H1 Cell Line	embryonic stem cell

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