Variant report

Variant	rs74051651
Chromosome Location	chr1:9445935-9445936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11121428	1.00[EUR][1000 genomes]
rs11811820	1.00[EUR][1000 genomes]
rs55913306	1.00[EUR][1000 genomes]
rs56133240	1.00[EUR][1000 genomes]
rs57585081	1.00[EUR][1000 genomes]
rs60678622	1.00[EUR][1000 genomes]
rs61547143	1.00[EUR][1000 genomes]
rs6701659	1.00[EUR][1000 genomes]
rs72862732	1.00[EUR][1000 genomes]
rs72862734	1.00[EUR][1000 genomes]
rs7354926	1.00[EUR][1000 genomes]
rs74051531	1.00[EUR][1000 genomes]
rs74051533	1.00[EUR][1000 genomes]
rs74051540	1.00[EUR][1000 genomes]
rs74051544	1.00[EUR][1000 genomes]
rs74051646	1.00[EUR][1000 genomes]
rs74051648	1.00[EUR][1000 genomes]
rs74051652	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9662928	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	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	esv3345013	chr1:9237327-9475707	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv871098	chr1:9371099-9469114	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1003190	chr1:9382452-9554553	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv534850	chr1:9382452-9554553	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9438400-9447200	Weak transcription	Aorta	Aorta
2	chr1:9438600-9447600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:9442000-9449400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:9442200-9446200	Enhancers	Ovary	ovary
5	chr1:9442200-9450200	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:9442800-9448800	Enhancers	Brain Hippocampus Middle	brain
7	chr1:9443000-9448800	Enhancers	Brain Substantia Nigra	brain
8	chr1:9443200-9446000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:9443200-9446200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:9443200-9449200	Enhancers	Brain Anterior Caudate	brain
11	chr1:9443600-9446400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:9443600-9449000	Weak transcription	Spleen	Spleen
13	chr1:9443800-9446200	Enhancers	Adipose Nuclei	Adipose
14	chr1:9444000-9446000	Enhancers	Rectal Smooth Muscle	rectum
15	chr1:9444000-9446200	Enhancers	Fetal Heart	heart
16	chr1:9444000-9446600	Bivalent Enhancer	Placenta	Placenta
17	chr1:9444000-9446600	Enhancers	Right Ventricle	heart
18	chr1:9444000-9446800	Enhancers	Brain Angular Gyrus	brain
19	chr1:9444000-9450000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:9444200-9446000	Enhancers	Colon Smooth Muscle	Colon
21	chr1:9444200-9446000	Enhancers	Fetal Intestine Large	intestine
22	chr1:9444200-9446000	Enhancers	Psoas Muscle	Psoas
23	chr1:9444200-9446400	Enhancers	Left Ventricle	heart
24	chr1:9444200-9446400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr1:9444200-9446600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:9444200-9446800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:9444400-9446000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:9444400-9446000	Enhancers	Duodenum Mucosa	Duodenum
29	chr1:9444400-9446000	Enhancers	Esophagus	oesophagus
30	chr1:9444400-9446000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr1:9444400-9446000	Enhancers	HSMM	muscle
32	chr1:9444600-9446200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr1:9444600-9446400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:9444600-9446600	Enhancers	Colonic Mucosa	Colon
35	chr1:9444800-9446000	Enhancers	HSMMtube	muscle
36	chr1:9444800-9447400	Enhancers	A549	lung
37	chr1:9445000-9446200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:9445000-9448200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:9445200-9446000	Weak transcription	Osteobl	bone
40	chr1:9445200-9446200	Enhancers	Stomach Smooth Muscle	stomach
41	chr1:9445200-9448200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:9445200-9448400	Weak transcription	Right Atrium	heart
43	chr1:9445200-9448400	Weak transcription	NH-A	brain
44	chr1:9445200-9448600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:9445400-9446200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr1:9445400-9446600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:9445400-9448200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:9445400-9448400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:9445400-9448400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:9445400-9448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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