Variant report

Variant	rs56280479
Chromosome Location	chr8:87373578-87373579
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	chr8:87365324..87368411-chr8:87373103..87375611,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10090107	1.00[EUR][1000 genomes]
rs10101280	0.89[EUR][1000 genomes]
rs10101337	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101658	0.88[EUR][1000 genomes]
rs10106735	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10107469	0.88[EUR][1000 genomes]
rs1054738	0.87[EUR][1000 genomes]
rs16907490	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16911667	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16912199	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16914543	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28446298	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28504305	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28801137	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3916649	1.00[EUR][1000 genomes]
rs60177164	1.00[EUR][1000 genomes]
rs61661701	1.00[EUR][1000 genomes]
rs7012745	0.88[EUR][1000 genomes]
rs73254743	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73254771	0.88[EUR][1000 genomes]
rs73257062	0.88[EUR][1000 genomes]
rs73271003	1.00[EUR][1000 genomes]
rs73273124	0.88[EUR][1000 genomes]
rs73688826	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7461904	0.88[EUR][1000 genomes]
rs7464360	0.88[EUR][1000 genomes]
rs7812422	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839610	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841007	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841939	1.00[EUR][1000 genomes]
rs9656826	0.88[EUR][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	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3383335	chr8:87373486-87375459	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87355800-87405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87356800-87403800	Weak transcription	Aorta	Aorta
3	chr8:87357000-87375600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:87357400-87403400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:87357600-87374600	Weak transcription	HUVEC	blood vessel
6	chr8:87357600-87382200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:87357800-87381000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:87357800-87382000	Weak transcription	Placenta	Placenta
9	chr8:87357800-87383200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:87357800-87413600	Weak transcription	Pancreas	Pancrea
11	chr8:87359000-87383600	Weak transcription	Dnd41	blood
12	chr8:87362400-87378200	Weak transcription	Gastric	stomach
13	chr8:87363800-87393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:87364000-87397400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:87366000-87398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:87366800-87423800	Weak transcription	Colonic Mucosa	Colon
17	chr8:87367400-87375200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:87368000-87382600	Weak transcription	Brain Anterior Caudate	brain
19	chr8:87368200-87379600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:87368200-87384600	Weak transcription	Fetal Intestine Large	intestine
21	chr8:87368200-87386600	Weak transcription	Hela-S3	cervix
22	chr8:87368400-87381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:87368600-87374600	Weak transcription	NHEK	skin
24	chr8:87368600-87375400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:87369000-87373800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:87369000-87378400	Weak transcription	Brain Angular Gyrus	brain
27	chr8:87369200-87384600	Weak transcription	Primary B cells from cord blood	blood
28	chr8:87369400-87375000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:87369400-87379200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr8:87369400-87379400	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:87369400-87380800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:87369600-87384800	Weak transcription	A549	lung
33	chr8:87369800-87381800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr8:87370000-87384800	Weak transcription	Fetal Lung	lung
35	chr8:87370600-87373800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr8:87370600-87380400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:87371000-87374200	Enhancers	Psoas Muscle	Psoas
38	chr8:87371000-87374800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr8:87371000-87381400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:87371000-87381400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr8:87371400-87381600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:87371600-87381000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr8:87372200-87373600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr8:87372200-87375400	Enhancers	Liver	Liver
45	chr8:87372400-87373800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr8:87372400-87373800	Enhancers	HepG2	liver
47	chr8:87372400-87374200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr8:87372400-87375800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:87372600-87373600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:87372600-87373600	Enhancers	Duodenum Mucosa	Duodenum

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