Variant report

Variant	rs62399066
Chromosome Location	chr6:31040553-31040554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:31027525..31029714-chr6:31040492..31042279,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11756797	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11758495	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17190526	0.82[ASN][1000 genomes]
rs17190589	0.82[ASN][1000 genomes]
rs2233947	0.86[ASN][1000 genomes]
rs2523868	0.86[ASN][1000 genomes]
rs3095300	0.82[ASN][1000 genomes]
rs35157432	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62398706	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62398740	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62398741	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62398744	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62398819	0.82[EUR][1000 genomes]
rs62399060	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62399061	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62399063	0.92[AFR][1000 genomes]
rs62399064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62399065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400570	0.86[ASN][1000 genomes]
rs62401699	0.86[ASN][1000 genomes]
rs62401700	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62401701	0.91[EUR][1000 genomes]
rs9262570	0.86[ASN][1000 genomes]
rs9263708	0.82[ASN][1000 genomes]
rs9263733	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv884131	chr6:31014305-31040725	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv884132	chr6:31014305-31057183	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
10	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
11	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
12	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
13	nsv884134	chr6:31028345-31048263	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv884135	chr6:31034264-31044522	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv884136	chr6:31036783-31044522	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31022200-31050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:31036000-31041000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:31037000-31047400	Weak transcription	Right Atrium	heart
4	chr6:31038000-31040600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:31038600-31042200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:31038600-31047400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:31039000-31041600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:31039000-31041800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:31039000-31042200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:31039000-31044600	Weak transcription	Fetal Kidney	kidney
11	chr6:31039000-31047400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:31039000-31047400	Weak transcription	Fetal Brain Male	brain
13	chr6:31039000-31047400	Weak transcription	HMEC	breast
14	chr6:31039000-31048200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:31039200-31047400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:31039200-31047400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:31039600-31040600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr6:31039600-31041600	Enhancers	Fetal Lung	lung
19	chr6:31039800-31040600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr6:31039800-31040600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:31039800-31040600	Enhancers	Stomach Smooth Muscle	stomach
22	chr6:31039800-31041600	Enhancers	Brain Germinal Matrix	brain
23	chr6:31040000-31040600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:31040000-31040600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:31040000-31040600	Enhancers	Adipose Nuclei	Adipose
26	chr6:31040000-31040600	Enhancers	Brain Angular Gyrus	brain
27	chr6:31040000-31040600	Enhancers	Brain Cingulate Gyrus	brain
28	chr6:31040000-31040600	Enhancers	Esophagus	oesophagus
29	chr6:31040000-31040600	Enhancers	A549	lung
30	chr6:31040000-31040600	Enhancers	HSMM	muscle
31	chr6:31040000-31040800	Enhancers	Brain Anterior Caudate	brain
32	chr6:31040000-31040800	Enhancers	HUVEC	blood vessel
33	chr6:31040000-31041000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:31040000-31041000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:31040000-31041000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:31040000-31041000	Enhancers	Brain Hippocampus Middle	brain
37	chr6:31040000-31041200	Enhancers	Brain Substantia Nigra	brain
38	chr6:31040000-31041400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:31040000-31041600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:31040000-31041600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:31040000-31041600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:31040000-31041600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:31040000-31041600	Enhancers	GM12878-XiMat	blood
44	chr6:31040000-31041600	Enhancers	NHDF-Ad	bronchial
45	chr6:31040000-31041600	Enhancers	Osteobl	bone
46	chr6:31040000-31041800	Enhancers	Colon Smooth Muscle	Colon
47	chr6:31040000-31041800	Enhancers	Fetal Stomach	stomach
48	chr6:31040000-31041800	Enhancers	NHLF	lung
49	chr6:31040000-31042400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:31040200-31040600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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