Variant report

Variant	rs1040446
Chromosome Location	chr6:167085008-167085009
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167083479..167085354-chr6:167089213..167090920,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11966647	0.90[CEU][hapmap];0.82[GIH][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs16899289	0.81[EUR][1000 genomes]
rs2223407	0.88[TSI][hapmap]
rs2281144	0.82[GIH][hapmap];0.85[TSI][hapmap]
rs4518470	1.00[CEU][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60078955	0.97[EUR][1000 genomes]
rs62438673	0.81[EUR][1000 genomes]
rs62438677	0.86[EUR][1000 genomes]
rs6456100	0.81[EUR][1000 genomes]
rs6935306	0.97[EUR][1000 genomes]
rs73259074	0.90[EUR][1000 genomes]
rs9348159	0.81[EUR][1000 genomes]
rs9348160	0.81[EUR][1000 genomes]
rs9356499	0.81[EUR][1000 genomes]
rs9364863	0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs9366036	0.81[EUR][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167077800-167086400	Weak transcription	Right Atrium	heart
2	chr6:167078600-167085200	Weak transcription	Right Ventricle	heart
3	chr6:167080400-167085800	Weak transcription	Brain Anterior Caudate	brain
4	chr6:167084200-167085600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:167084400-167085600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:167084400-167085800	Enhancers	HMEC	breast
7	chr6:167084600-167085200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:167084600-167085200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:167084600-167085200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr6:167084600-167086200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:167084600-167086200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr6:167084800-167085200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr6:167084800-167085400	Enhancers	Brain Cingulate Gyrus	brain
14	chr6:167084800-167085600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr6:167084800-167086000	Enhancers	Fetal Kidney	kidney
16	chr6:167084800-167087200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:167085000-167085200	Enhancers	Placenta	Placenta
18	chr6:167085000-167085200	Enhancers	Pancreas	Pancrea
19	chr6:167085000-167085400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr6:167085000-167085400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:167085000-167085400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
22	chr6:167085000-167085400	Enhancers	Aorta	Aorta
23	chr6:167085000-167085400	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr6:167085000-167085600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr6:167085000-167085600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:167085000-167085600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:167085000-167085600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:167085000-167085600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:167085000-167085600	Enhancers	Ovary	ovary
30	chr6:167085000-167086000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:167085000-167086200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:167085000-167086600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:167085000-167086800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:167085000-167087200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr6:167085000-167088000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:167085000-167088200	Bivalent Enhancer	Fetal Stomach	stomach
37	chr6:167085000-167089000	Enhancers	Spleen	Spleen

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