Variant report

Variant	rs72905738
Chromosome Location	chr6:80359787-80359788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80355101..80357190-chr6:80359761..80362377,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1033535	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12525799	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12526427	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs12526644	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12527512	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12527526	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12530052	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17505891	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1883879	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34532743	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3812155	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3812159	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55649340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55781748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72901825	1.00[AFR][1000 genomes]
rs72905744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh 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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80345400-80363200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:80345600-80359800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:80350600-80373600	Weak transcription	Gastric	stomach
4	chr6:80351000-80361200	Weak transcription	Psoas Muscle	Psoas
5	chr6:80352400-80360600	Enhancers	Stomach Mucosa	stomach
6	chr6:80352800-80363400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:80353200-80360200	Weak transcription	Left Ventricle	heart
8	chr6:80354200-80359800	Weak transcription	Brain Substantia Nigra	brain
9	chr6:80356800-80360000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:80356800-80361600	Enhancers	HUVEC	blood vessel
11	chr6:80357200-80360400	Enhancers	Fetal Intestine Small	intestine
12	chr6:80357200-80360400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr6:80357200-80361800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:80357600-80360000	Enhancers	Duodenum Mucosa	Duodenum
15	chr6:80357600-80360400	Enhancers	HepG2	liver
16	chr6:80357600-80361000	Enhancers	Adipose Nuclei	Adipose
17	chr6:80357600-80361800	Enhancers	Fetal Intestine Large	intestine
18	chr6:80358200-80360000	Enhancers	Brain Angular Gyrus	brain
19	chr6:80358400-80377800	Weak transcription	Spleen	Spleen
20	chr6:80358600-80360000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:80358600-80362200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:80358800-80359800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:80358800-80360000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:80358800-80361400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:80359000-80361600	Weak transcription	HSMM	muscle
26	chr6:80359000-80363400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:80359200-80359800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:80359400-80360000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:80359400-80360000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr6:80359400-80360200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:80359400-80360400	Enhancers	HSMMtube	muscle
32	chr6:80359600-80359800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:80359600-80359800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr6:80359600-80360000	Enhancers	Colon Smooth Muscle	Colon
35	chr6:80359600-80360200	Weak transcription	Small Intestine	intestine
36	chr6:80359600-80360600	Enhancers	Right Atrium	heart
37	chr6:80359600-80360800	Weak transcription	Fetal Lung	lung
38	chr6:80359600-80361600	Enhancers	Fetal Heart	heart
39	chr6:80359600-80363200	Weak transcription	Brain Anterior Caudate	brain
40	chr6:80359600-80376000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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