Variant report

Variant	rs9942753
Chromosome Location	chr8:8743619-8743620
allele	A/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: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10092694	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs1062988	0.83[EUR][1000 genomes]
rs12114511	0.80[ASN][1000 genomes]
rs12335245	0.84[EUR][1000 genomes]
rs13249564	0.94[CEU][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13250810	0.83[EUR][1000 genomes]
rs13251163	0.82[EUR][1000 genomes]
rs13254041	1.00[CEU][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13260641	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13263327	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265597	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13268804	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13274994	0.82[EUR][1000 genomes]
rs13276873	0.84[EUR][1000 genomes]
rs13277397	0.81[EUR][1000 genomes]
rs13278142	0.82[EUR][1000 genomes]
rs17154872	1.00[ASN][1000 genomes]
rs17154876	1.00[ASN][1000 genomes]
rs28626220	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28711612	0.83[EUR][1000 genomes]
rs34315433	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34470797	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34695890	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35005822	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35060319	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35400846	0.83[EUR][1000 genomes]
rs35736441	0.85[EUR][1000 genomes]
rs35820021	0.83[EUR][1000 genomes]
rs36025219	0.83[EUR][1000 genomes]
rs36045355	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36061325	0.83[EUR][1000 genomes]
rs3748141	0.82[EUR][1000 genomes]
rs3762032	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3762033	0.81[ASN][1000 genomes]
rs3762034	0.81[ASN][1000 genomes]
rs4840373	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4841061	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4841062	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4841063	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4841065	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4841066	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4841067	0.94[CEU][hapmap]
rs59934392	0.99[ASN][1000 genomes]
rs60822177	0.85[EUR][1000 genomes]
rs6601267	0.94[CEU][hapmap];0.81[YRI][hapmap];0.85[EUR][1000 genomes]
rs6601268	0.80[ASN][1000 genomes]
rs7008835	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs7013902	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs71514517	0.82[EUR][1000 genomes]
rs73192215	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192227	0.82[EUR][1000 genomes]
rs7812459	0.80[ASN][1000 genomes]
rs7844068	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	chr8:8730800-8747600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:8731000-8745200	Weak transcription	HUVEC	blood vessel
3	chr8:8731000-8745600	Weak transcription	Primary B cells from cord blood	blood
4	chr8:8731400-8745400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:8732600-8745600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:8735200-8745200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr8:8735600-8745200	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:8735800-8745200	Weak transcription	Colonic Mucosa	Colon
9	chr8:8735800-8745200	Weak transcription	Psoas Muscle	Psoas
10	chr8:8735800-8745600	Weak transcription	Ovary	ovary
11	chr8:8735800-8746200	Weak transcription	Esophagus	oesophagus
12	chr8:8738000-8745200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:8738600-8745400	Weak transcription	HMEC	breast
14	chr8:8738600-8745800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:8739000-8745200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:8739000-8745600	Weak transcription	Small Intestine	intestine
17	chr8:8739200-8745600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:8739200-8746800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:8740400-8745200	Weak transcription	Fetal Stomach	stomach
20	chr8:8740400-8745400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:8740400-8745800	Weak transcription	Placenta	Placenta
22	chr8:8740800-8745200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:8741800-8744200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr8:8741800-8744200	Enhancers	Hela-S3	cervix
25	chr8:8741800-8744600	Enhancers	Brain Anterior Caudate	brain
26	chr8:8741800-8744600	Enhancers	HepG2	liver
27	chr8:8742000-8743800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr8:8742000-8743800	Enhancers	Fetal Heart	heart
29	chr8:8742000-8744000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:8742000-8744200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr8:8742000-8744200	Enhancers	Colon Smooth Muscle	Colon
32	chr8:8742000-8744200	Enhancers	Fetal Lung	lung
33	chr8:8742000-8744600	Enhancers	Fetal Thymus	thymus
34	chr8:8742000-8744600	Enhancers	K562	blood
35	chr8:8742000-8744800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr8:8742000-8745200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr8:8742000-8745600	Enhancers	Liver	Liver
38	chr8:8742200-8744000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:8742200-8744000	Enhancers	Left Ventricle	heart
40	chr8:8742200-8745200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:8742400-8744000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:8742400-8745200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr8:8742400-8745400	Weak transcription	Right Ventricle	heart
44	chr8:8742400-8745400	Weak transcription	HSMM	muscle
45	chr8:8742400-8745600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:8742400-8745600	Weak transcription	Right Atrium	heart
47	chr8:8742400-8745800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:8742400-8745800	Weak transcription	Lung	lung
49	chr8:8742600-8745400	Weak transcription	Aorta	Aorta
50	chr8:8742600-8745800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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