Variant report

Variant	rs73662204
Chromosome Location	chr8:8745509-8745510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8743895..8745799-chr8:8861981..8863756,2	K562	blood:
2	chr8:8733670..8736303-chr8:8745304..8747711,2	K562	blood:
3	chr8:8738833..8741293-chr8:8745302..8747462,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11989848	1.00[AMR][1000 genomes]
rs56014185	1.00[AMR][1000 genomes]
rs57915239	1.00[AMR][1000 genomes]
rs58957416	1.00[AMR][1000 genomes]
rs59294496	1.00[AMR][1000 genomes]
rs59472758	1.00[AMR][1000 genomes]
rs60082781	1.00[AMR][1000 genomes]
rs60519586	1.00[AMR][1000 genomes]
rs73662205	0.87[AFR][1000 genomes]
rs73662206	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662207	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662208	1.00[AMR][1000 genomes]
rs73662250	1.00[AMR][1000 genomes]
rs73662251	1.00[AMR][1000 genomes]
rs73662252	1.00[AMR][1000 genomes]
rs73662258	1.00[AMR][1000 genomes]
rs73662259	1.00[AMR][1000 genomes]
rs73662260	1.00[AMR][1000 genomes]
rs73662261	1.00[AMR][1000 genomes]
rs73662262	1.00[AMR][1000 genomes]
rs73662265	1.00[AMR][1000 genomes]
rs73662266	1.00[AMR][1000 genomes]
rs73662267	1.00[AMR][1000 genomes]
rs73662268	1.00[AMR][1000 genomes]
rs73662269	1.00[AMR][1000 genomes]
rs73662270	1.00[AMR][1000 genomes]
rs73662271	1.00[AMR][1000 genomes]
rs73662272	1.00[AMR][1000 genomes]
rs73662273	1.00[AMR][1000 genomes]
rs73662274	1.00[AMR][1000 genomes]
rs73662275	1.00[AMR][1000 genomes]
rs73662276	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv610190	chr8:8744240-8766881	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8730800-8747600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:8731000-8745600	Weak transcription	Primary B cells from cord blood	blood
3	chr8:8732600-8745600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:8735800-8745600	Weak transcription	Ovary	ovary
5	chr8:8735800-8746200	Weak transcription	Esophagus	oesophagus
6	chr8:8738600-8745800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:8739000-8745600	Weak transcription	Small Intestine	intestine
8	chr8:8739200-8745600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:8739200-8746800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:8740400-8745800	Weak transcription	Placenta	Placenta
11	chr8:8742000-8745600	Enhancers	Liver	Liver
12	chr8:8742400-8745600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:8742400-8745600	Weak transcription	Right Atrium	heart
14	chr8:8742400-8745800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:8742400-8745800	Weak transcription	Lung	lung
16	chr8:8742600-8745800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:8742600-8745800	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:8742600-8745800	Weak transcription	Gastric	stomach
19	chr8:8742600-8747200	Weak transcription	Spleen	Spleen
20	chr8:8742800-8745600	Weak transcription	Adipose Nuclei	Adipose
21	chr8:8742800-8745800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:8742800-8746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:8743000-8745600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:8743200-8745600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:8743200-8748200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:8743400-8745600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:8743400-8745600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:8743800-8745800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr8:8744000-8745600	Weak transcription	Left Ventricle	heart
30	chr8:8744000-8747600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:8744200-8745600	Weak transcription	Thymus	Thymus
32	chr8:8744400-8745600	Active TSS	Fetal Brain Female	brain
33	chr8:8744600-8745800	Weak transcription	Pancreas	Pancrea
34	chr8:8745000-8747000	Active TSS	Fetal Brain Male	brain
35	chr8:8745200-8745600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:8745200-8745600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr8:8745200-8745600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:8745200-8745600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr8:8745200-8745600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr8:8745200-8745600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:8745200-8745600	Enhancers	Fetal Heart	heart
42	chr8:8745200-8745600	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr8:8745200-8745600	Enhancers	HUVEC	blood vessel
44	chr8:8745200-8745800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:8745200-8745800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr8:8745200-8745800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:8745200-8745800	Active TSS	Colonic Mucosa	Colon
48	chr8:8745200-8745800	Enhancers	Fetal Stomach	stomach
49	chr8:8745200-8745800	Transcr. at gene 5' and 3'	K562	blood
50	chr8:8745200-8746000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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