Variant report

Variant	rs1979477
Chromosome Location	chr8:130921271-130921272
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130920727..130922896-chr8:130924444..130927527,3	K562	blood:
2	chr8:130921182..130922896-chr8:130924381..130926057,2	K562	blood:
3	chr8:130921210..130924992-chr8:130930808..130933056,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10956502	0.83[ASN][1000 genomes]
rs11984804	0.83[ASN][1000 genomes]
rs167238	0.91[ASN][1000 genomes]
rs167239	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904166	0.83[ASN][1000 genomes]
rs2046260	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2054632	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs212992	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2306528	0.80[ASN][1000 genomes]
rs2449417	0.90[ASN][1000 genomes]
rs2663613	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2663618	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2663619	0.91[ASN][1000 genomes]
rs298602	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298604	0.92[ASN][1000 genomes]
rs298605	0.91[ASN][1000 genomes]
rs298606	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs298607	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs298609	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs298610	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298611	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs298612	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298613	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298614	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298615	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298616	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298617	0.94[ASN][1000 genomes]
rs298618	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298619	0.91[ASN][1000 genomes]
rs298620	0.91[ASN][1000 genomes]
rs2989885	0.93[ASN][1000 genomes]
rs367117	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs383209	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs384752	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs385022	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs389604	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs401526	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs412941	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs423915	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs438877	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4395866	0.83[ASN][1000 genomes]
rs476849	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs59839253	0.83[ASN][1000 genomes]
rs710616	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs710617	0.90[ASN][1000 genomes]
rs837065	0.90[ASN][1000 genomes]
rs837075	0.88[ASN][1000 genomes]
rs837079	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs837080	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs837081	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs857233	0.92[ASN][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	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv521998	chr8:130921162-130932427	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130898600-130926200	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:130899400-130925600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:130900000-130922000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:130900000-130925200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:130900000-130926200	Weak transcription	Brain Angular Gyrus	brain
6	chr8:130900600-130922000	Weak transcription	Esophagus	oesophagus
7	chr8:130900600-130935000	Weak transcription	Fetal Intestine Small	intestine
8	chr8:130900800-130922000	Weak transcription	Gastric	stomach
9	chr8:130901000-130922000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:130901000-130922200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:130901000-130922800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:130901000-130924600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:130901000-130924600	Weak transcription	K562	blood
14	chr8:130901000-130929200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:130901000-130935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:130902600-130921800	Weak transcription	Adipose Nuclei	Adipose
17	chr8:130903800-130922000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:130904000-130930200	Weak transcription	Hela-S3	cervix
19	chr8:130904000-130950600	Weak transcription	HSMM	muscle
20	chr8:130904400-130928600	Weak transcription	Brain Anterior Caudate	brain
21	chr8:130904600-130922000	Weak transcription	HMEC	breast
22	chr8:130905200-130950000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:130907000-130928600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:130907800-130929000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:130909400-130924800	Weak transcription	NHEK	skin
26	chr8:130912400-130944600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:130912600-130922200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:130912600-130924000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:130912800-130924400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:130912800-130925800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:130913000-130923200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:130913000-130923400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:130913200-130922800	Weak transcription	Spleen	Spleen
34	chr8:130913200-130924600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:130913400-130946000	Weak transcription	Fetal Thymus	thymus
36	chr8:130913600-130929400	Weak transcription	Primary T cells from cord blood	blood
37	chr8:130913800-130922000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:130913800-130925000	Weak transcription	Thymus	Thymus
39	chr8:130914000-130922000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:130914000-130926400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:130914400-130925600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:130915000-130923000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:130916800-130922000	Weak transcription	Primary B cells from cord blood	blood
44	chr8:130916800-130922800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:130916800-130923000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr8:130916800-130923200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr8:130917000-130927400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:130917000-130944600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr8:130917200-130921800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr8:130917200-130922000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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