Variant report

Variant	rs6427646
Chromosome Location	chr1:161991708-161991709
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10218569	0.92[AFR][1000 genomes]
rs1337065	1.00[AFR][1000 genomes]
rs4233383	0.85[AFR][1000 genomes]
rs4657135	1.00[AFR][1000 genomes]
rs6669525	0.96[AFR][1000 genomes]
rs6699250	0.92[AFR][1000 genomes]
rs7534852	0.88[AFR][1000 genomes]
rs7554169	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1007108	chr1:161925814-162002917	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161979200-161993200	Weak transcription	Gastric	stomach
2	chr1:161986800-161993000	Weak transcription	Spleen	Spleen
3	chr1:161988000-161992400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:161988600-161991800	Enhancers	NHLF	lung
5	chr1:161989400-161992400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:161989400-161993000	Weak transcription	HUVEC	blood vessel
7	chr1:161989600-161991800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:161989600-161992000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:161989600-161992400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:161989600-161992600	Weak transcription	Ovary	ovary
11	chr1:161989600-161993000	Weak transcription	Brain Substantia Nigra	brain
12	chr1:161989800-161992600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:161989800-161992600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:161989800-161993000	Weak transcription	Pancreas	Pancrea
15	chr1:161990000-161992400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:161990000-161992600	Weak transcription	Brain Anterior Caudate	brain
17	chr1:161990000-161993000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:161990200-161992600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:161990400-161992000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:161990400-161992000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:161990600-161992000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:161990800-161991800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:161990800-161991800	Bivalent Enhancer	Fetal Stomach	stomach
24	chr1:161990800-161992000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:161990800-161992000	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr1:161990800-161992000	Flanking Active TSS	HSMMtube	muscle
27	chr1:161990800-161992400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:161991000-161991800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:161991000-161991800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr1:161991000-161992000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr1:161991000-161992000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr1:161991000-161992000	Enhancers	Brain Hippocampus Middle	brain
33	chr1:161991000-161992000	Flanking Active TSS	Osteobl	bone
34	chr1:161991000-161993800	Weak transcription	Fetal Heart	heart
35	chr1:161991200-161991800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:161991200-161991800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:161991200-161992000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr1:161991200-161992000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr1:161991200-161992000	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr1:161991200-161992400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:161991200-161992400	Weak transcription	Lung	lung
42	chr1:161991200-161992800	Weak transcription	Right Ventricle	heart
43	chr1:161991200-161993000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:161991200-161993000	Bivalent/Poised TSS	Placenta	Placenta
45	chr1:161991200-161993000	Weak transcription	Left Ventricle	heart
46	chr1:161991400-161991800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
47	chr1:161991400-161991800	Active TSS	Aorta	Aorta
48	chr1:161991400-161991800	Enhancers	NH-A	brain
49	chr1:161991400-161992200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
50	chr1:161991400-161992200	Active TSS	Fetal Muscle Trunk	muscle

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