Variant report

Variant	rs6151899
Chromosome Location	chr5:80125711-80125712
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	chr5:80125203..80128127-chr5:80129223..80131141,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10054031	0.94[AFR][1000 genomes]
rs10076885	0.87[AFR][1000 genomes]
rs6151696	0.87[AFR][1000 genomes]
rs6151724	0.87[AFR][1000 genomes]
rs6151870	0.86[AFR][1000 genomes]
rs6877470	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv882231	chr5:79984714-80187929	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80042800-80173400	Weak transcription	Right Ventricle	heart
2	chr5:80085200-80127600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr5:80087400-80132800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:80087800-80167400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:80091200-80144400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:80091400-80181000	Weak transcription	Small Intestine	intestine
7	chr5:80103800-80144600	Weak transcription	Gastric	stomach
8	chr5:80110600-80145200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:80111400-80131800	Weak transcription	Hela-S3	cervix
10	chr5:80113200-80128200	Weak transcription	HSMM	muscle
11	chr5:80119000-80125800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:80119000-80145000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:80120800-80143800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:80121200-80130400	Weak transcription	Stomach Mucosa	stomach
15	chr5:80123800-80125800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr5:80124200-80125800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:80124200-80125800	ZNF genes & repeats	Fetal Lung	lung
18	chr5:80124800-80125800	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:80124800-80127200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:80125000-80141600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:80125000-80141600	Weak transcription	Ovary	ovary
22	chr5:80125000-80142000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:80125000-80142000	Weak transcription	Fetal Stomach	stomach
24	chr5:80125000-80142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:80125000-80142200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:80125000-80142200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:80125000-80143600	Weak transcription	Left Ventricle	heart
28	chr5:80125000-80143800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:80125000-80144600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr5:80125000-80145000	Weak transcription	Aorta	Aorta
31	chr5:80125200-80129800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:80125200-80132600	Weak transcription	GM12878-XiMat	blood
33	chr5:80125200-80132800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:80125200-80133600	Weak transcription	Primary T cells from cord blood	blood
35	chr5:80125200-80141600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr5:80125200-80142000	Weak transcription	Fetal Intestine Small	intestine
37	chr5:80125200-80143800	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:80125200-80144200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:80125200-80144400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr5:80125200-80144400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:80125200-80145000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr5:80125200-80145000	Weak transcription	Adipose Nuclei	Adipose
43	chr5:80125200-80145400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:80125200-80151400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr5:80125200-80161600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:80125400-80128200	Weak transcription	Fetal Kidney	kidney
47	chr5:80125400-80130800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:80125400-80130800	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:80125400-80141800	Weak transcription	Liver	Liver
50	chr5:80125400-80143800	Weak transcription	Primary hematopoietic stem cells	blood

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