Variant report

Variant	rs1040443
Chromosome Location	chr6:167086801-167086802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1040445	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6921577	0.90[EUR][1000 genomes]
rs6933835	0.94[EUR][1000 genomes]
rs9295360	0.83[ASN][1000 genomes]
rs9366043	0.95[EUR][1000 genomes]
rs9366044	0.95[EUR][1000 genomes]
rs9366045	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1020888	chr6:167059455-167136562	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv538540	chr6:167059455-167136562	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2754464	chr6:167059528-167130749	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv482478	chr6:167071366-167265821	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167084800-167087200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:167085000-167087200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr6:167085000-167088000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:167085000-167088200	Bivalent Enhancer	Fetal Stomach	stomach
5	chr6:167085000-167089000	Enhancers	Spleen	Spleen
6	chr6:167085200-167087000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
7	chr6:167085200-167087000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:167085200-167087000	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr6:167085200-167087000	Enhancers	Left Ventricle	heart
10	chr6:167085200-167087800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:167085200-167087800	Weak transcription	Pancreas	Pancrea
12	chr6:167085400-167087800	Bivalent Enhancer	Adipose Nuclei	Adipose
13	chr6:167085400-167088800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:167085400-167091600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:167085600-167087000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:167085600-167087800	Weak transcription	Psoas Muscle	Psoas
17	chr6:167085600-167091400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:167085800-167087000	Bivalent Enhancer	Placenta	Placenta
19	chr6:167085800-167087200	Bivalent Enhancer	Fetal Thymus	thymus
20	chr6:167086000-167087200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr6:167086200-167087200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr6:167086200-167087400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr6:167086200-167087800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:167086200-167088000	Enhancers	Right Ventricle	heart
25	chr6:167086400-167087000	Enhancers	Right Atrium	heart
26	chr6:167086400-167087400	Weak transcription	Brain Anterior Caudate	brain
27	chr6:167086400-167087400	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:167086400-167087800	Enhancers	Stomach Smooth Muscle	stomach
29	chr6:167086400-167088600	Enhancers	Lung	lung
30	chr6:167086600-167087000	Enhancers	Brain Angular Gyrus	brain
31	chr6:167086600-167087400	Enhancers	Fetal Lung	lung
32	chr6:167086600-167088000	Enhancers	Fetal Heart	heart
33	chr6:167086600-167088000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr6:167086800-167087000	Enhancers	Aorta	Aorta
35	chr6:167086800-167087000	Enhancers	Liver	Liver
36	chr6:167086800-167087000	Bivalent Enhancer	Fetal Intestine Large	intestine
37	chr6:167086800-167087200	Weak transcription	Ovary	ovary
38	chr6:167086800-167087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:167086800-167087800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:167086800-167087800	Weak transcription	Esophagus	oesophagus
41	chr6:167086800-167088600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:167086800-167091600	Weak transcription	Gastric	stomach

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