Variant report

Variant	rs550193
Chromosome Location	chr6:150393890-150393891
allele	A/G
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	MAX	chr6:150393230-150393967	HCT-116	colon:	n/a	chr6:150393475-150393485 chr6:150393774-150393783
2	SP1	chr6:150393117-150394028	HCT-116	colon:	n/a	chr6:150393700-150393710 chr6:150393663-150393672 chr6:150393474-150393486 chr6:150393471-150393485 chr6:150393475-150393485 chr6:150393662-150393671 chr6:150393475-150393485 chr6:150393663-150393672 chr6:150393475-150393484 chr6:150393662-150393672 chr6:150393476-150393485 chr6:150393474-150393486
3	JUND	chr6:150393247-150393909	HCT-116	colon:	n/a	chr6:150393520-150393532 chr6:150393521-150393530 chr6:150393520-150393531
4	JUN	chr6:150393213-150394062	K562	blood:	n/a	chr6:150393520-150393532 chr6:150393521-150393530
5	FOSL1	chr6:150393258-150393902	HCT-116	colon:	n/a	chr6:150393520-150393532 chr6:150393521-150393530 chr6:150393520-150393531

Variant related genes	Relation type
ULBP3	TF binding region

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2009345	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2010259	0.81[JPT][hapmap]
rs2065713	0.83[ASN][1000 genomes]
rs2343271	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs470138	0.80[JPT][hapmap]
rs4869816	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6920314	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6941524	0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs912556	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs932744	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9371692	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9371693	0.95[CHB][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9397137	0.81[JPT][hapmap]
rs9397622	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv886767	chr6:150335407-150400488	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1026236	chr6:150360882-150408946	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS 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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150390200-150394000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:150390400-150395400	Weak transcription	Spleen	Spleen
3	chr6:150390400-150397200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:150390600-150397200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:150390800-150394000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:150390800-150397000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:150390800-150397200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:150390800-150397400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:150390800-150400800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:150391000-150394000	Enhancers	Stomach Mucosa	stomach
11	chr6:150391000-150395200	Weak transcription	Fetal Brain Female	brain
12	chr6:150391000-150397200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:150391200-150410000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:150392200-150394000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:150392400-150395800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:150392400-150395800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:150392400-150400600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:150392600-150396200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:150392800-150396200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:150393200-150394000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr6:150393400-150394000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:150393800-150395200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:150393800-150395400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:150393800-150395600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:150393800-150396200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:150393800-150396400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:150393800-150397200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:150393800-150397200	Weak transcription	HMEC	breast
29	chr6:150393800-150397400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:150393800-150400800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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