Variant report

Variant	rs62406499
Chromosome Location	chr6:36917845-36917846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr6:36917345-36917883	SK-N-SH	brain:	n/a	n/a
2	FOS	chr6:36917342-36918299	HUVEC	blood vessel:	n/a	chr6:36917614-36917625
3	TCF12	chr6:36917292-36917973	SK-N-SH	brain:	n/a	n/a
4	JUN	chr6:36917430-36918293	HUVEC	blood vessel:	n/a	n/a
5	FOSL1	chr6:36917334-36917874	HCT-116	colon:	n/a	n/a
6	GATA3	chr6:36917247-36917953	SK-N-SH	brain:	n/a	n/a
7	GATA2	chr6:36917414-36917874	HUVEC	blood vessel:	n/a	n/a
8	FOSL2	chr6:36917306-36917959	SK-N-SH	brain:	n/a	n/a
9	FOS	chr6:36917421-36918224	MCF10A-Er-Src	breast:	n/a	chr6:36917614-36917625
10	GATA3	chr6:36917349-36917850	SK-N-SH	brain:	n/a	n/a
11	JUND	chr6:36917353-36917933	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr6:36917340-36917906	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36915747..36919680-chr6:36919787..36923449,3	K562	blood:

Variant related genes	Relation type
PI16	TF binding region
ENSG00000164530	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17624006	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272194	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272198	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58012316	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58759314	0.89[AFR][1000 genomes]
rs62406491	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62406492	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62406493	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62406498	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62406518	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62406522	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs708005	0.90[EUR][1000 genomes]
rs708006	0.82[EUR][1000 genomes]
rs72846863	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846873	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848004	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470445	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv519499	chr6:36915906-36924102	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv522653	chr6:36915906-36925774	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36898600-36922200	Weak transcription	Right Atrium	heart
2	chr6:36915400-36918000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:36915800-36918000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:36916000-36921400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:36916000-36923000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:36916200-36919400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:36916200-36920800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:36916200-36920800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:36916200-36921200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr6:36916200-36921200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:36916200-36921600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:36916200-36922600	Weak transcription	Brain Anterior Caudate	brain
13	chr6:36916200-36923000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:36916400-36920600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:36916400-36920600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:36916400-36920600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:36916400-36921400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:36916400-36921400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:36916400-36921400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr6:36916600-36920600	Weak transcription	Primary B cells from cord blood	blood
21	chr6:36916600-36921200	Weak transcription	Primary T cells from cord blood	blood
22	chr6:36916600-36921800	Weak transcription	Dnd41	blood
23	chr6:36916800-36918600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:36916800-36921200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:36917000-36918000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:36917000-36918000	Enhancers	Brain Substantia Nigra	brain
27	chr6:36917000-36918000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:36917000-36918200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:36917000-36918200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:36917000-36918200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:36917000-36921000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr6:36917000-36921400	Weak transcription	Thymus	Thymus
33	chr6:36917200-36918000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:36917200-36918000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:36917200-36918000	Enhancers	HMEC	breast
36	chr6:36917200-36918000	Enhancers	HSMM	muscle
37	chr6:36917200-36918000	Enhancers	NHDF-Ad	bronchial
38	chr6:36917200-36918000	Enhancers	NHLF	lung
39	chr6:36917200-36918000	Enhancers	Osteobl	bone
40	chr6:36917200-36918200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:36917200-36918200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:36917200-36918200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:36917200-36918200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:36917200-36918200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr6:36917200-36918200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:36917200-36918200	Enhancers	NH-A	brain
47	chr6:36917200-36918200	Enhancers	NHEK	skin
48	chr6:36917200-36918600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:36917200-36920800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr6:36917200-36920800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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