Variant report

Variant	rs28542435
Chromosome Location	chr8:121797220-121797221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10086173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10087417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10100219	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13256614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13266005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13267880	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13274524	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28608098	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34131072	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34261625	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34274533	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34521781	0.98[EUR][1000 genomes]
rs35855379	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4327892	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4345604	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4509376	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57356692	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67852639	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67932638	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988816	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996312	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010904	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73325120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757289	chr8:121765701-121828919	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759640	chr8:121765701-121828919	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28542435	SCD	trans	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121770200-121797400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:121770200-121798600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:121775200-121797400	Weak transcription	Spleen	Spleen
4	chr8:121782000-121797600	Weak transcription	Aorta	Aorta
5	chr8:121787200-121797400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:121789000-121797400	Weak transcription	Primary B cells from cord blood	blood
7	chr8:121789000-121797800	Weak transcription	Thymus	Thymus
8	chr8:121790400-121797600	Weak transcription	Gastric	stomach
9	chr8:121790800-121797600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:121791400-121797400	Weak transcription	Fetal Stomach	stomach
11	chr8:121792200-121798200	Weak transcription	Pancreas	Pancrea
12	chr8:121792600-121797400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:121793600-121797400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:121793800-121797400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:121793800-121797400	Weak transcription	NH-A	brain
16	chr8:121793800-121799000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:121794200-121797600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:121794200-121798600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:121794400-121798000	Weak transcription	Primary T cells from cord blood	blood
20	chr8:121794600-121797600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:121795000-121799200	Enhancers	Liver	Liver
22	chr8:121795800-121799200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:121795800-121799200	Enhancers	Psoas Muscle	Psoas
24	chr8:121795800-121805200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:121796200-121797800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr8:121796400-121797400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:121796400-121797600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:121796400-121798600	Enhancers	NHLF	lung
29	chr8:121796600-121797600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:121796600-121797600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr8:121796600-121798200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:121796600-121798200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:121796600-121798800	Enhancers	Fetal Muscle Leg	muscle
34	chr8:121796600-121799000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:121796600-121799000	Enhancers	Fetal Muscle Trunk	muscle
36	chr8:121796600-121799000	Enhancers	HSMMtube	muscle
37	chr8:121796600-121799200	Enhancers	Primary T cells fromperipheralblood	blood
38	chr8:121796600-121799200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr8:121796600-121799400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr8:121796600-121799400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:121796600-121799400	Enhancers	NHDF-Ad	bronchial
42	chr8:121796800-121797800	Weak transcription	Esophagus	oesophagus
43	chr8:121796800-121799200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:121796800-121799200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr8:121796800-121799200	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr8:121796800-121799400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr8:121797000-121797600	Strong transcription	HepG2	liver
48	chr8:121797000-121797600	Enhancers	Osteobl	bone
49	chr8:121797000-121798600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:121797000-121798800	Enhancers	Primary T helper cells fromperipheralblood	blood

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