Variant report

Variant	rs59104926
Chromosome Location	chr6:25168836-25168837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr6:25165540-25168869	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
CMAHP	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs303020	0.82[EUR][1000 genomes]
rs45546139	1.00[EUR][1000 genomes]
rs6928303	0.95[EUR][1000 genomes]
rs7759688	1.00[EUR][1000 genomes]
rs7760331	1.00[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	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
2	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
3	nsv1025694	chr6:25136860-25309450	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1020774	chr6:25154152-25285679	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv538161	chr6:25154152-25285679	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv462663	chr6:25156197-25234884	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv601167	chr6:25156197-25234884	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59104926	CMAH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25164800-25173800	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:25165400-25169200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:25165600-25177000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:25166000-25171800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr6:25166200-25170400	Weak transcription	Gastric	stomach
6	chr6:25166400-25174000	Weak transcription	Fetal Lung	lung
7	chr6:25166600-25170200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr6:25166600-25170400	Weak transcription	Lung	lung
9	chr6:25166600-25170400	Weak transcription	HSMM	muscle
10	chr6:25166800-25169000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:25166800-25169800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:25167000-25169800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:25167000-25169800	Weak transcription	Hela-S3	cervix
14	chr6:25167000-25169800	Weak transcription	NHDF-Ad	bronchial
15	chr6:25167000-25171400	Weak transcription	NHEK	skin
16	chr6:25167000-25173200	Weak transcription	Fetal Intestine Large	intestine
17	chr6:25167000-25173200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:25167000-25174400	Weak transcription	Aorta	Aorta
19	chr6:25167000-25177400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:25167200-25169400	Weak transcription	Osteobl	bone
21	chr6:25167400-25169200	Enhancers	Thymus	Thymus
22	chr6:25167400-25169800	Weak transcription	Liver	Liver
23	chr6:25167400-25169800	Weak transcription	HSMMtube	muscle
24	chr6:25167400-25170000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:25167400-25170400	Weak transcription	Pancreas	Pancrea
26	chr6:25167600-25169200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:25167600-25175400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:25167800-25169400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:25167800-25170200	Enhancers	Primary hematopoietic stem cells	blood
30	chr6:25167800-25170200	Weak transcription	Stomach Mucosa	stomach
31	chr6:25167800-25171000	Enhancers	Fetal Thymus	thymus
32	chr6:25167800-25172000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:25168000-25169400	Enhancers	Primary B cells from cord blood	blood
34	chr6:25168400-25170800	Enhancers	Dnd41	blood
35	chr6:25168800-25169000	Enhancers	Fetal Intestine Small	intestine
36	chr6:25168800-25169200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:25168800-25169200	Enhancers	Esophagus	oesophagus
38	chr6:25168800-25169200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr6:25168800-25177000	Enhancers	Placenta	Placenta

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