Variant report

Variant	rs73057562
Chromosome Location	chr5:14233624-14233625
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	chr5:14220084..14222429-chr5:14232339..14235006,2	MCF-7	breast:
2	chr5:14227979..14229903-chr5:14232544..14234484,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11958958	1.00[AMR][1000 genomes]
rs16903280	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16903317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903330	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59032427	0.87[AMR][1000 genomes]
rs60615600	0.87[AMR][1000 genomes]
rs61737132	0.87[AMR][1000 genomes]
rs6891552	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73055570	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055575	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055577	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055578	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055592	1.00[AMR][1000 genomes]
rs73055595	1.00[AMR][1000 genomes]
rs73055596	1.00[AMR][1000 genomes]
rs73055600	1.00[AMR][1000 genomes]
rs73055601	1.00[AMR][1000 genomes]
rs73057505	1.00[AMR][1000 genomes]
rs73057508	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057511	1.00[AMR][1000 genomes]
rs73057512	1.00[AMR][1000 genomes]
rs73057521	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057526	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057539	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057554	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057593	0.87[AMR][1000 genomes]
rs73057602	0.87[AMR][1000 genomes]
rs73059545	0.87[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	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv4724	chr5:14225543-14243167	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14217000-14234600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:14221800-14249600	Weak transcription	Colonic Mucosa	Colon
3	chr5:14223800-14237600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:14224000-14237400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:14224000-14239600	Weak transcription	Primary B cells from cord blood	blood
6	chr5:14225000-14237600	Genic enhancers	HSMM	muscle
7	chr5:14226200-14237800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:14226400-14249400	Weak transcription	Esophagus	oesophagus
9	chr5:14226600-14246800	Weak transcription	Fetal Intestine Small	intestine
10	chr5:14227000-14237400	Weak transcription	Spleen	Spleen
11	chr5:14227200-14237400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:14227400-14237400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:14227600-14239000	Weak transcription	Gastric	stomach
14	chr5:14228600-14237400	Weak transcription	Hela-S3	cervix
15	chr5:14228800-14233800	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:14229000-14237600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:14229600-14234800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:14229800-14234200	Weak transcription	Aorta	Aorta
19	chr5:14229800-14234200	Weak transcription	Right Ventricle	heart
20	chr5:14230000-14237600	Weak transcription	Brain Germinal Matrix	brain
21	chr5:14230200-14233800	Weak transcription	GM12878-XiMat	blood
22	chr5:14230200-14234000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:14230200-14234000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:14230200-14234200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:14230600-14237600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:14230800-14238400	Weak transcription	Fetal Brain Female	brain
27	chr5:14231200-14234000	Weak transcription	Fetal Heart	heart
28	chr5:14231200-14235800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:14231400-14233800	Weak transcription	HepG2	liver
30	chr5:14231400-14234000	Weak transcription	NHLF	lung
31	chr5:14231400-14234200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:14231400-14234200	Weak transcription	HUVEC	blood vessel
33	chr5:14231400-14234400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr5:14231400-14236800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:14231400-14239800	Weak transcription	Small Intestine	intestine
36	chr5:14231600-14234000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:14231600-14234000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:14231600-14234000	Weak transcription	NHEK	skin
39	chr5:14231600-14234200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:14231600-14237800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:14231800-14233800	Weak transcription	NH-A	brain
42	chr5:14231800-14234000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:14231800-14234000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:14231800-14234000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:14231800-14238600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:14232000-14234200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:14232000-14238000	Weak transcription	Colon Smooth Muscle	Colon
48	chr5:14232200-14234000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:14232200-14240600	Weak transcription	Fetal Intestine Large	intestine
50	chr5:14232400-14233800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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