Variant report

Variant	rs72960023
Chromosome Location	chr6:74170078-74170079
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:74169994-74170412	HepG2	liver:	n/a	n/a
2	GATA1	chr6:74169276-74170145	PBDE	blood:	n/a	n/a
3	POLR2A	chr6:74169765-74172235	SK-N-MC	brain:	n/a	n/a
4	STAT3	chr6:74169901-74170093	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr6:74169938-74170085	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr6:74170053-74170104	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74163748..74166075-chr6:74168317..74170786,2	K562	blood:
2	chr6:74169971..74171514-chr6:74363161..74365275,2	K562	blood:
3	6:74000304-74012200..6:74160392-74184826	K562	blood:
4	chr6:74169192..74174230-chr6:74229143..74231785,9	K562	blood:
5	chr6:74169360..74174580-chr6:74228668..74231530,6	MCF-7	breast:
6	chr6:74101120..74105028-chr6:74169928..74173303,3	K562	blood:
7	chr6:74160479..74164788-chr6:74167921..74174562,8	MCF-7	breast:
8	chr6:74160723..74162735-chr6:74167312..74170112,3	MCF-7	breast:
9	chr6:74170014..74172890-chr6:74363161..74365164,3	K562	blood:

No data

Variant related genes	Relation type
RNU6-975P	TF binding region
MTO1	TF binding region
ENSG00000203907	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000080007	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000234882	Chromatin interaction
ENSG00000164430	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000224221	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11961187	1.00[AFR][1000 genomes]
rs11965436	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11968395	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11969010	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3806980	0.85[EUR][1000 genomes]
rs4032697	1.00[AFR][1000 genomes]
rs72951364	0.85[EUR][1000 genomes]
rs72960035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72960044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72960049	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72960065	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72961942	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
4	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74162200-74170800	Weak transcription	Liver	Liver
2	chr6:74162200-74170800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:74162200-74170800	Weak transcription	Lung	lung
4	chr6:74162400-74170800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:74162400-74170800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:74162400-74170800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:74162600-74170800	Weak transcription	Osteobl	bone
8	chr6:74164400-74170800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:74164800-74170800	Weak transcription	HMEC	breast
10	chr6:74164800-74171200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:74165400-74170800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:74166200-74170600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:74166400-74170600	Weak transcription	Hela-S3	cervix
14	chr6:74166400-74170800	Weak transcription	NHEK	skin
15	chr6:74166600-74170200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:74166800-74170400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr6:74167800-74170600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:74168000-74170600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr6:74168600-74170600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr6:74168800-74170400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr6:74168800-74170600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:74169000-74170200	Enhancers	GM12878-XiMat	blood
23	chr6:74169000-74170800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:74169200-74170600	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:74169200-74170600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:74169200-74170600	Enhancers	Brain Cingulate Gyrus	brain
27	chr6:74169200-74170800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:74169200-74170800	Enhancers	Primary B cells from cord blood	blood
29	chr6:74169200-74170800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:74169200-74170800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:74169400-74170600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:74169400-74170800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr6:74169400-74170800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr6:74169800-74170200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:74169800-74170200	Enhancers	Dnd41	blood
36	chr6:74169800-74170600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:74169800-74170600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:74169800-74170600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:74169800-74170800	Enhancers	K562	blood
40	chr6:74170000-74170400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr6:74170000-74170600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr6:74170000-74170600	Enhancers	Brain Anterior Caudate	brain
43	chr6:74170000-74170600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr6:74170000-74170800	Enhancers	Brain Substantia Nigra	brain
45	chr6:74170000-74170800	Enhancers	HepG2	liver

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