Variant report

Variant	rs6678422
Chromosome Location	chr1:114204700-114204701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11803395	0.87[AFR][1000 genomes]
rs12144215	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1419231	0.90[ASN][1000 genomes]
rs17031795	0.86[EUR][1000 genomes]
rs17274627	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17359281	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17359378	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17359468	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17461918	0.82[ASN][1000 genomes]
rs17508449	0.81[ASN][1000 genomes]
rs2146018	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761934	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41352847	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4393155	0.82[EUR][1000 genomes]
rs4589108	0.86[EUR][1000 genomes]
rs4838993	0.92[ASN][1000 genomes]
rs4838994	0.93[ASN][1000 genomes]
rs4839327	0.84[ASN][1000 genomes]
rs4839329	0.92[ASN][1000 genomes]
rs4839330	0.91[ASN][1000 genomes]
rs4839331	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4839332	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4839333	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4839336	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4839341	0.80[EUR][1000 genomes]
rs7514649	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012324	chr1:114135133-114206843	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114171600-114241400	Weak transcription	Right Ventricle	heart
2	chr1:114173000-114214400	Weak transcription	Esophagus	oesophagus
3	chr1:114173000-114226800	Weak transcription	Aorta	Aorta
4	chr1:114173600-114206000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:114173800-114214400	Weak transcription	Pancreas	Pancrea
6	chr1:114173800-114236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:114179800-114239600	Weak transcription	Spleen	Spleen
8	chr1:114182000-114219600	Weak transcription	Fetal Kidney	kidney
9	chr1:114182600-114206200	Weak transcription	Hela-S3	cervix
10	chr1:114182800-114217400	Weak transcription	NHDF-Ad	bronchial
11	chr1:114183000-114235800	Weak transcription	Dnd41	blood
12	chr1:114183400-114215800	Weak transcription	Fetal Lung	lung
13	chr1:114183600-114216400	Weak transcription	A549	lung
14	chr1:114184600-114204800	Weak transcription	Psoas Muscle	Psoas
15	chr1:114185200-114224400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:114185400-114214600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:114185400-114228000	Weak transcription	HepG2	liver
18	chr1:114185800-114223600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:114190000-114206200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:114190000-114217600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:114190000-114220000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:114190200-114204800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:114190200-114214000	Weak transcription	Placenta	Placenta
24	chr1:114194000-114223600	Weak transcription	Left Ventricle	heart
25	chr1:114194200-114215200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:114195600-114206000	Weak transcription	HSMM	muscle
27	chr1:114195600-114214400	Weak transcription	Adipose Nuclei	Adipose
28	chr1:114195800-114205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:114196400-114204800	Weak transcription	HMEC	breast
30	chr1:114196600-114226400	Weak transcription	Gastric	stomach
31	chr1:114196800-114214400	Weak transcription	Ovary	ovary
32	chr1:114197000-114214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:114197600-114214600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:114200200-114227800	Weak transcription	Stomach Mucosa	stomach
35	chr1:114200400-114214400	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:114200400-114215800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:114201600-114219400	Weak transcription	Fetal Heart	heart
38	chr1:114201800-114207000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr1:114202000-114241400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:114202200-114204800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:114202400-114206000	Weak transcription	NHLF	lung
42	chr1:114202400-114214000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:114202400-114214400	Weak transcription	Lung	lung
44	chr1:114202400-114220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:114202600-114205000	Enhancers	Rectal Smooth Muscle	rectum
46	chr1:114202600-114206400	Weak transcription	Liver	Liver
47	chr1:114203000-114204800	Weak transcription	NHEK	skin
48	chr1:114203000-114205200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:114203000-114205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:114203000-114214600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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