Variant report

Variant	rs59934392
Chromosome Location	chr8:8742271-8742272
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	chr8:8742135..8744016-chr8:8747118..8749376,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12114511	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13254041	0.99[ASN][1000 genomes]
rs13263327	0.99[ASN][1000 genomes]
rs17154872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17154876	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28663650	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36045355	0.92[ASN][1000 genomes]
rs3762033	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3762034	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4841066	0.81[ASN][1000 genomes]
rs6601268	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73192215	0.99[ASN][1000 genomes]
rs7812459	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7844068	0.93[ASN][1000 genomes]
rs9942753	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv2757257	chr8:8707639-8747894	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2759591	chr8:8707639-8747894	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv818595	chr8:8712895-8752684	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8730400-8742400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:8730800-8742600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:8730800-8747600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:8731000-8745200	Weak transcription	HUVEC	blood vessel
5	chr8:8731000-8745600	Weak transcription	Primary B cells from cord blood	blood
6	chr8:8731400-8745400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:8732600-8745600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:8732800-8742600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:8735200-8745200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:8735600-8745200	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:8735800-8742400	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:8735800-8743200	Weak transcription	Fetal Intestine Large	intestine
13	chr8:8735800-8745200	Weak transcription	Colonic Mucosa	Colon
14	chr8:8735800-8745200	Weak transcription	Psoas Muscle	Psoas
15	chr8:8735800-8745600	Weak transcription	Ovary	ovary
16	chr8:8735800-8746200	Weak transcription	Esophagus	oesophagus
17	chr8:8738000-8745200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:8738400-8742600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr8:8738600-8745400	Weak transcription	HMEC	breast
20	chr8:8738600-8745800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:8739000-8742400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:8739000-8742400	Weak transcription	NHEK	skin
23	chr8:8739000-8742600	Weak transcription	Brain Substantia Nigra	brain
24	chr8:8739000-8745200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:8739000-8745600	Weak transcription	Small Intestine	intestine
26	chr8:8739200-8742600	Weak transcription	Brain Angular Gyrus	brain
27	chr8:8739200-8745600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:8739200-8746800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:8739600-8742600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:8739600-8743600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:8740400-8742600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:8740400-8742600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:8740400-8745200	Weak transcription	Fetal Stomach	stomach
34	chr8:8740400-8745400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:8740400-8745800	Weak transcription	Placenta	Placenta
36	chr8:8740800-8742400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:8740800-8745200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:8741000-8742600	Weak transcription	Fetal Intestine Small	intestine
39	chr8:8741400-8743200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:8741600-8743200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr8:8741600-8743200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:8741800-8742400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:8741800-8742600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr8:8741800-8742800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr8:8741800-8742800	Enhancers	NH-A	brain
46	chr8:8741800-8743000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr8:8741800-8743200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr8:8741800-8743200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:8741800-8743200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr8:8741800-8743600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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