Variant report

Variant	rs6920314
Chromosome Location	chr6:150393262-150393263
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	MAX	chr6:150393230-150393967	HCT-116	colon:	n/a	chr6:150393475-150393485 chr6:150393774-150393783
2	TCF12	chr6:150393260-150393865	ECC-1	luminal epithelium:	n/a	n/a
3	ELF1	chr6:150393198-150393647	K562	blood:	n/a	chr6:150393444-150393457
4	NR2F2	chr6:150393215-150393811	K562	blood:	n/a	n/a
5	ELF1	chr6:150393232-150393802	MCF-7	breast:	n/a	chr6:150393444-150393457
6	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
7	JUND	chr6:150393247-150393909	HCT-116	colon:	n/a	chr6:150393520-150393532 chr6:150393521-150393530 chr6:150393520-150393531
8	JUN	chr6:150393213-150394062	K562	blood:	n/a	chr6:150393520-150393532 chr6:150393521-150393530
9	NFIC	chr6:150393251-150393764	ECC-1	luminal epithelium:	n/a	n/a
10	FOSL1	chr6:150393258-150393902	HCT-116	colon:	n/a	chr6:150393520-150393532 chr6:150393521-150393530 chr6:150393520-150393531
11	JUND	chr6:150393204-150393851	MCF-7	breast:	n/a	chr6:150393520-150393532 chr6:150393521-150393530 chr6:150393520-150393531
12	FOSL1	chr6:150393243-150393731	K562	blood:	n/a	chr6:150393520-150393532 chr6:150393521-150393530 chr6:150393520-150393531

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150361366..150363759-chr6:150390933..150393439,2	K562	blood:

Variant related genes	Relation type
ULBP3	TF binding region
ENSG00000235972	Chromatin interaction
ENSG00000213091	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2009345	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2065713	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2343271	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4869816	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs550193	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6941524	0.85[ASN][1000 genomes]
rs912556	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs932744	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9371692	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9371693	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9397622	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150390200-150394000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:150390400-150393400	Weak transcription	Lung	lung
3	chr6:150390400-150393400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:150390400-150393600	Weak transcription	Esophagus	oesophagus
5	chr6:150390400-150395400	Weak transcription	Spleen	Spleen
6	chr6:150390400-150397200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:150390600-150397200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:150390800-150393400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:150390800-150393400	Weak transcription	Psoas Muscle	Psoas
10	chr6:150390800-150393400	Weak transcription	HUVEC	blood vessel
11	chr6:150390800-150393400	Weak transcription	NH-A	brain
12	chr6:150390800-150393400	Weak transcription	Osteobl	bone
13	chr6:150390800-150393600	Weak transcription	Right Atrium	heart
14	chr6:150390800-150393800	Enhancers	HMEC	breast
15	chr6:150390800-150394000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:150390800-150397000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:150390800-150397200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:150390800-150397400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:150390800-150400800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:150391000-150393400	Weak transcription	HSMM	muscle
21	chr6:150391000-150394000	Enhancers	Stomach Mucosa	stomach
22	chr6:150391000-150395200	Weak transcription	Fetal Brain Female	brain
23	chr6:150391000-150397200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:150391200-150393400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:150391200-150393400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:150391200-150393400	Weak transcription	Fetal Intestine Large	intestine
27	chr6:150391200-150393400	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:150391200-150393600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:150391200-150410000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:150391400-150393600	Weak transcription	Colonic Mucosa	Colon
31	chr6:150392000-150393800	Enhancers	Hela-S3	cervix
32	chr6:150392200-150393800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:150392200-150393800	Enhancers	K562	blood
34	chr6:150392200-150394000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr6:150392400-150393400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:150392400-150393400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:150392400-150393800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr6:150392400-150393800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:150392400-150395800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:150392400-150395800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:150392400-150400600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:150392600-150393400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr6:150392600-150393600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:150392600-150393800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:150392600-150393800	Enhancers	Placenta	Placenta
46	chr6:150392600-150396200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:150392800-150396200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:150393000-150393800	Enhancers	NHEK	skin
49	chr6:150393200-150393400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:150393200-150393400	Enhancers	Adipose Nuclei	Adipose

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