Variant report

Variant	rs73485438
Chromosome Location	chr6:86390379-86390380
allele	G/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	POLR2A	chr6:86390111-86390479	K562	blood:	n/a	n/a
2	UBTF	chr6:86390188-86390388	K562	blood:	n/a	n/a
3	WRNIP1	chr6:86390374-86390386	GM12878	blood:	n/a	n/a
4	MXI1	chr6:86386518-86390564	IMR90	lung:	n/a	n/a
5	MYC	chr6:86389954-86390538	K562	blood:	n/a	n/a
6	POLR2A	chr6:86390159-86390453	K562	blood:	n/a	n/a
7	TBP	chr6:86390131-86390495	K562	blood:	n/a	n/a
8	IRF1	chr6:86386332-86390540	K562	blood:	n/a	chr6:86389992-86390012 chr6:86389999-86390016 chr6:86390000-86390011 chr6:86388505-86388519 chr6:86390001-86390012 chr6:86389999-86390011 chr6:86389998-86390011
9	POLR2A	chr6:86390099-86390465	HL-60	blood:	n/a	n/a
10	REST	chr6:86389916-86390500	HL-60	blood:	n/a	n/a
11	POLR2A	chr6:86390050-86390420	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr6:86390111-86390396	K562	blood:	n/a	n/a
13	MAX	chr6:86390166-86390423	K562	blood:	n/a	n/a
14	YY1	chr6:86390198-86390422	K562	blood:	n/a	n/a
15	MAX	chr6:86390119-86390543	K562	blood:	n/a	n/a
16	MAX	chr6:86390013-86390531	NB4	blood:	n/a	n/a
17	KAP1	chr6:86387254-86390412	HEK293	kidney:	n/a	n/a
18	MXI1	chr6:86384658-86390661	SK-N-SH	brain:	n/a	n/a
19	MYC	chr6:86389837-86390598	K562	blood:	n/a	n/a
20	MYC	chr6:86390036-86390578	NB4	blood:	n/a	n/a
21	ZNF384	chr6:86389975-86390659	K562	blood:	n/a	n/a
22	RFX5	chr6:86389856-86390469	K562	blood:	n/a	n/a
23	IRF1	chr6:86389942-86390545	K562	blood:	n/a	chr6:86389992-86390012 chr6:86389999-86390016 chr6:86390000-86390011 chr6:86390001-86390012 chr6:86389999-86390011 chr6:86389998-86390011
24	MAX	chr6:86390152-86390466	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:86389006..86390560-chr6:86474592..86476523,2	K562	blood:
2	chr6:86338689..86357756-chr6:86378394..86390434,115	MCF-7	breast:
3	chr6:86360455..86373602-chr6:86382637..86391992,19	MCF-7	breast:
4	chr6:31773748..31775519-chr6:86387939..86390447,2	MCF-7	breast:
5	chr6:86389569..86391670-chr6:86458987..86460830,2	MCF-7	breast:
6	chr6:86300286..86310605-chr6:86384413..86390498,39	K562	blood:
7	chr6:86298349..86307534-chr6:86383938..86391964,31	K562	blood:

Variant related genes	Relation type
SNHG5	TF binding region
ENSG00000135317	Chromatin interaction
ENSG00000236016	Chromatin interaction
ENSG00000204392	Chromatin interaction
ENSG00000135316	Chromatin interaction
ENSG00000220563	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73485419	0.81[AFR][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	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
4	nsv1028293	chr6:86353958-86778912	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases
5	nsv538350	chr6:86353958-86778912	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86385000-86390400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:86386200-86390600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:86387200-86390400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:86387200-86390600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:86387800-86390600	Active TSS	A549	lung
6	chr6:86388000-86390400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:86388000-86390400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:86388000-86390400	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:86388400-86390400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:86388800-86390400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr6:86388800-86390600	Flanking Active TSS	Dnd41	blood
12	chr6:86389000-86390400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:86389000-86390400	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr6:86389000-86390400	Flanking Active TSS	HUVEC	blood vessel
15	chr6:86389200-86390400	Flanking Active TSS	NHEK	skin
16	chr6:86389400-86390400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:86389400-86390400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr6:86389600-86390400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr6:86389600-86390400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:86389600-86390400	Enhancers	Primary hematopoietic stem cells	blood
21	chr6:86389600-86390400	Enhancers	Fetal Lung	lung
22	chr6:86389600-86390400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr6:86389600-86390400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr6:86389600-86393200	Weak transcription	Psoas Muscle	Psoas
25	chr6:86389800-86390400	Enhancers	Fetal Brain Female	brain
26	chr6:86389800-86390400	Enhancers	Fetal Heart	heart
27	chr6:86389800-86390400	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr6:86389800-86390600	Active TSS	NHDF-Ad	bronchial
29	chr6:86390000-86390400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr6:86390000-86390400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:86390000-86390400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:86390000-86390400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:86390000-86390400	Enhancers	Fetal Thymus	thymus
34	chr6:86390000-86392000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:86390200-86390400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr6:86390200-86390400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:86390200-86390400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:86390200-86390400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
39	chr6:86390200-86390400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:86390200-86390400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr6:86390200-86390400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:86390200-86390400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:86390200-86390400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:86390200-86390400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:86390200-86390400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:86390200-86390400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr6:86390200-86390400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:86390200-86390400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:86390200-86390400	Enhancers	Gastric	stomach
50	chr6:86390200-86390400	Enhancers	Skeletal Muscle Female	skeletal muscle

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