Variant report

Variant	rs73317836
Chromosome Location	chr5:145557695-145557696
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145555891..145557716-chr5:145560403..145562060,2	MCF-7	breast:
2	chr5:145549719..145552981-chr5:145557063..145560291,4	MCF-7	breast:
3	chr5:145556363..145559212-chr5:145560408..145562154,3	K562	blood:
4	chr5:145555213..145560576-chr5:145560598..145562206,4	K562	blood:
5	chr5:145551306..145553774-chr5:145557195..145559625,2	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	1.00[AMR][1000 genomes]
rs56791671	1.00[AMR][1000 genomes]
rs73313961	1.00[AMR][1000 genomes]
rs73313970	1.00[AMR][1000 genomes]
rs73313975	1.00[AMR][1000 genomes]
rs73313996	1.00[AMR][1000 genomes]
rs73315778	1.00[AMR][1000 genomes]
rs73315794	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317821	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317828	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317831	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317870	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319938	0.81[AFR][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	chr5:145491000-145560200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:145491200-145560200	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:145491200-145560200	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:145491200-145560800	Weak transcription	Stomach Mucosa	stomach
6	chr5:145491400-145560000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:145491400-145560400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:145491600-145559800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:145492200-145560200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:145495800-145559200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:145519200-145558200	Strong transcription	Dnd41	blood
12	chr5:145532200-145559600	Weak transcription	Small Intestine	intestine
13	chr5:145532200-145561000	Weak transcription	Esophagus	oesophagus
14	chr5:145535200-145559600	Strong transcription	Fetal Muscle Leg	muscle
15	chr5:145535600-145559600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:145537800-145560800	Weak transcription	Fetal Heart	heart
17	chr5:145541000-145560400	Weak transcription	Right Atrium	heart
18	chr5:145542600-145559600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:145542600-145560200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:145542600-145560400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:145542600-145560600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:145542800-145559600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:145542800-145561200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:145543000-145560200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:145543600-145560400	Weak transcription	Brain Angular Gyrus	brain
26	chr5:145544000-145560400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:145544000-145560400	Weak transcription	Psoas Muscle	Psoas
28	chr5:145544600-145559400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr5:145545800-145557800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:145546200-145558200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:145546200-145560200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr5:145546200-145560400	Weak transcription	Pancreas	Pancrea
33	chr5:145546400-145558800	Weak transcription	Brain Germinal Matrix	brain
34	chr5:145546800-145559000	Weak transcription	Fetal Brain Male	brain
35	chr5:145547000-145561000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr5:145547800-145558600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:145548000-145559600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:145548000-145561000	Weak transcription	NHLF	lung
39	chr5:145550000-145561000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:145550400-145561000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:145550600-145559200	Weak transcription	Gastric	stomach
42	chr5:145550600-145559600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:145550600-145560400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr5:145550600-145561000	Weak transcription	Colonic Mucosa	Colon
45	chr5:145550600-145561600	Weak transcription	Aorta	Aorta
46	chr5:145550600-145561600	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:145550800-145559600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:145550800-145560400	Weak transcription	Right Ventricle	heart
49	chr5:145550800-145560400	Weak transcription	Spleen	Spleen
50	chr5:145550800-145560600	Weak transcription	Ovary	ovary

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