Variant report

Variant	rs9379721
Chromosome Location	chr6:25133000-25133001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1547054	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1547055	0.80[EUR][1000 genomes]
rs1823184	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838967	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1923195	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2145769	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2295737	0.80[ASN][1000 genomes]
rs2516577	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2894033	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs302967	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs302984	0.85[AFR][1000 genomes]
rs303022	0.80[ASN][1000 genomes]
rs303023	0.80[ASN][1000 genomes]
rs303025	0.80[ASN][1000 genomes]
rs3812105	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4712887	0.80[ASN][1000 genomes]
rs6919920	0.80[ASN][1000 genomes]
rs7740661	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7740668	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7773802	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7775959	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7776121	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv830611	chr6:25039374-25199112	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv470806	chr6:25082262-25156197	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv462662	chr6:25084718-25165486	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv601166	chr6:25084718-25165486	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9379721	CMAHP	cis	Thyroid	GTEx
rs9379721	CMAH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25103800-25134800	Weak transcription	Psoas Muscle	Psoas
2	chr6:25104800-25136800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:25110800-25133400	Weak transcription	Aorta	Aorta
4	chr6:25113000-25136800	Weak transcription	Osteobl	bone
5	chr6:25116000-25137000	Weak transcription	Lung	lung
6	chr6:25122600-25133800	Weak transcription	NHDF-Ad	bronchial
7	chr6:25122600-25137000	Weak transcription	Colonic Mucosa	Colon
8	chr6:25122600-25137000	Weak transcription	HSMM	muscle
9	chr6:25122800-25137000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:25123600-25136600	Weak transcription	HSMMtube	muscle
11	chr6:25123800-25136800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:25123800-25138400	Weak transcription	Pancreas	Pancrea
13	chr6:25124400-25138200	Weak transcription	Spleen	Spleen
14	chr6:25126200-25133000	Weak transcription	Primary B cells from cord blood	blood
15	chr6:25126200-25133200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:25126200-25136400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:25126400-25133200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr6:25126400-25133400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:25126400-25135400	Weak transcription	Thymus	Thymus
20	chr6:25126400-25136800	Weak transcription	Liver	Liver
21	chr6:25128200-25135000	Weak transcription	Placenta	Placenta
22	chr6:25128400-25135200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr6:25128600-25134400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:25129000-25133200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr6:25129000-25133800	Weak transcription	Left Ventricle	heart
26	chr6:25129000-25133800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr6:25129400-25133000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:25129400-25133800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:25129400-25136400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:25129600-25133400	Weak transcription	Right Atrium	heart
31	chr6:25129600-25136800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:25129800-25135400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:25130400-25133000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:25130600-25136800	Weak transcription	Ovary	ovary
35	chr6:25131000-25133400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:25131000-25134800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:25131400-25133800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:25131800-25133200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr6:25131800-25136600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr6:25132000-25133000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr6:25132000-25136600	ZNF genes & repeats	Dnd41	blood
42	chr6:25132200-25133600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:25132200-25136000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr6:25132400-25133000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:25132400-25133400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:25132400-25133400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:25132400-25134800	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:25132400-25136800	Weak transcription	Adipose Nuclei	Adipose
49	chr6:25132600-25133200	ZNF genes & repeats	GM12878-XiMat	blood
50	chr6:25132800-25133000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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