Variant report

Variant	rs6996312
Chromosome Location	chr8:121811312-121811313
allele	C/T
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	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10087417	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10100219	1.00[EUR][1000 genomes]
rs13256614	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13266005	1.00[EUR][1000 genomes]
rs13267880	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13274524	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28542435	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28608098	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34131072	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34261625	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34274533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34521781	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35855379	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4327892	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4345604	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4509376	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57356692	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67852639	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67932638	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984228	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988083	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988816	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010152	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010904	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73325120	0.85[AFR][1000 genomes];0.97[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
rs6996312	SCD	trans	lymphoblastoid	RTeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121798600-121819400	Weak transcription	Fetal Stomach	stomach
2	chr8:121799000-121820800	Weak transcription	Aorta	Aorta
3	chr8:121799200-121819600	Weak transcription	Lung	lung
4	chr8:121799400-121820800	Weak transcription	Fetal Intestine Small	intestine
5	chr8:121801600-121820400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:121802000-121816400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:121802600-121814600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:121802800-121813800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:121803200-121814600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:121804800-121820800	Weak transcription	Fetal Intestine Large	intestine
11	chr8:121805000-121813800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:121805600-121814200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:121805600-121816000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:121805600-121821200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:121805800-121815400	Weak transcription	HSMMtube	muscle
16	chr8:121805800-121816600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:121806600-121816200	Weak transcription	Fetal Kidney	kidney
18	chr8:121806800-121819800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:121808200-121820600	Weak transcription	HSMM	muscle
20	chr8:121808400-121814000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:121808800-121815800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:121809000-121814200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:121809000-121820400	Weak transcription	NHLF	lung
24	chr8:121809000-121820600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:121809600-121811600	Enhancers	Primary B cells from cord blood	blood
26	chr8:121809800-121813200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:121809800-121814800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:121809800-121815200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:121810000-121812600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr8:121810000-121812600	Enhancers	Primary B cells from peripheral blood	blood
31	chr8:121810000-121813000	Genic enhancers	HepG2	liver
32	chr8:121810000-121813600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:121810200-121811400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr8:121810200-121813000	Enhancers	Adipose Nuclei	Adipose
35	chr8:121810200-121815000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:121810200-121815200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:121810200-121815400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:121810400-121814600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:121810400-121815000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:121810400-121816600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:121810600-121811600	Strong transcription	Primary T cells from cord blood	blood
42	chr8:121810800-121812600	Enhancers	Liver	Liver
43	chr8:121811000-121812800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr8:121811200-121811400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:121811200-121811400	Enhancers	Gastric	stomach
46	chr8:121811200-121811400	Enhancers	Left Ventricle	heart
47	chr8:121811200-121811600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr8:121811200-121813600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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