Variant report

Variant	rs6899067
Chromosome Location	chr5:80549078-80549079
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	chr5:80547726..80550284-chr5:80550387..80553255,3	K562	blood:
2	chr5:80546433..80550284-chr5:80550387..80553828,5	K562	blood:

Variant related genes	Relation type
ENSG00000131730	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10036376	1.00[JPT][hapmap]
rs10514215	1.00[JPT][hapmap]
rs13159978	0.88[AMR][1000 genomes]
rs13160378	0.83[ASN][1000 genomes]
rs13184427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13187211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878563	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17294956	1.00[JPT][hapmap]
rs2270825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2291940	0.87[EUR][1000 genomes]
rs2406555	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34198027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34378267	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34755999	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35244045	0.83[ASN][1000 genomes]
rs35646117	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35813740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35864788	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6859306	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6872504	0.88[AMR][1000 genomes]
rs750728	1.00[JPT][hapmap]
rs7725743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs976741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80528000-80564400	Weak transcription	Hela-S3	cervix
2	chr5:80529400-80549400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:80530800-80556400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:80531200-80551200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:80531200-80556400	Weak transcription	Thymus	Thymus
6	chr5:80531200-80564200	Weak transcription	HepG2	liver
7	chr5:80531800-80555800	Weak transcription	Fetal Lung	lung
8	chr5:80532200-80551000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:80532200-80556800	Weak transcription	Dnd41	blood
10	chr5:80538400-80551400	Weak transcription	GM12878-XiMat	blood
11	chr5:80539000-80555200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:80541400-80549200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:80541800-80550600	Weak transcription	Fetal Intestine Large	intestine
14	chr5:80541800-80564400	Weak transcription	A549	lung
15	chr5:80542200-80557000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:80543000-80554200	Weak transcription	Pancreas	Pancrea
17	chr5:80543800-80565600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:80544000-80549200	Weak transcription	NHEK	skin
19	chr5:80544000-80549400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:80544000-80557000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:80544000-80564200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:80544000-80564400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:80544200-80549200	Weak transcription	HMEC	breast
24	chr5:80544200-80549400	Weak transcription	HSMM	muscle
25	chr5:80544200-80549800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:80544200-80550800	Weak transcription	Osteobl	bone
27	chr5:80544200-80551000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:80544200-80551200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:80544200-80561400	Weak transcription	NHLF	lung
30	chr5:80544200-80564600	Weak transcription	HSMMtube	muscle
31	chr5:80544400-80550600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:80544400-80551400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:80545200-80550800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:80545200-80554400	Weak transcription	Ovary	ovary
35	chr5:80545200-80555400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:80545400-80565200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:80545800-80564800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:80546200-80551200	Strong transcription	Fetal Stomach	stomach
39	chr5:80546200-80552000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:80546400-80551200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:80546600-80551200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:80546600-80552000	Weak transcription	Fetal Brain Female	brain
43	chr5:80546600-80552400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:80546600-80552800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:80546600-80552800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr5:80546600-80556800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:80546600-80564600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:80547000-80550200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:80547000-80551400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr5:80547200-80550600	Strong transcription	Left Ventricle	heart

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