Variant report

Variant	rs13205080
Chromosome Location	chr6:150037574-150037575
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	BATF	chr6:150037341-150037644	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:150036887-150041282	K562	blood:	n/a	n/a
3	GATA1	chr6:150037034-150040314	K562	blood:	n/a	chr6:150039753-150039760 chr6:150039692-150039709 chr6:150039753-150039762 chr6:150039701-150039711 chr6:150039701-150039710 chr6:150039703-150039713 chr6:150039753-150039760 chr6:150039703-150039710 chr6:150039703-150039710 chr6:150039752-150039762 chr6:150039754-150039771 chr6:150039746-150039767 chr6:150039753-150039760 chr6:150038726-150038734 chr6:150039701-150039710 chr6:150039703-150039710
4	IRF3	chr6:150037518-150037957	GM12878	blood:	n/a	chr6:150037723-150037735 chr6:150037518-150037529
5	IRF1	chr6:150037357-150039961	K562	blood:	n/a	chr6:150037517-150037531 chr6:150037723-150037735 chr6:150037516-150037528 chr6:150037518-150037529 chr6:150037517-150037527 chr6:150037517-150037528 chr6:150037515-150037528 chr6:150038144-150038151 chr6:150037515-150037528 chr6:150037514-150037528 chr6:150037513-150037527 chr6:150037516-150037533 chr6:150037516-150037528
6	BATF	chr6:150037325-150037646	GM12878	blood:	n/a	n/a
7	MXI1	chr6:150037377-150037987	GM12878	blood:	n/a	n/a
8	IRF1	chr6:150037270-150039909	K562	blood:	n/a	chr6:150037517-150037531 chr6:150037723-150037735 chr6:150037516-150037528 chr6:150037518-150037529 chr6:150037517-150037527 chr6:150037517-150037528 chr6:150037515-150037528 chr6:150038144-150038151 chr6:150037515-150037528 chr6:150037514-150037528 chr6:150037513-150037527 chr6:150037516-150037533 chr6:150037516-150037528
9	ZNF263	chr6:150037018-150038061	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:149864465..149868641-chr6:150037478..150040253,6	MCF-7	breast:
2	chr6:150037075..150038991-chr6:150181496..150184249,2	K562	blood:
3	chr6:149866797..149869221-chr6:150037385..150040762,4	K562	blood:
4	chr6:149966676..149970226-chr6:150037413..150039390,4	MCF-7	breast:
5	chr6:150037573..150039874-chr7:99755624..99757771,2	MCF-7	breast:
6	chr6:149967309..149971944-chr6:150037502..150040952,6	MCF-7	breast:
7	chr6:150036817..150045008-chr6:150066563..150073628,17	MCF-7	breast:
8	chr6:150022443..150028756-chr6:150036776..150040441,8	MCF-7	breast:
9	chr6:150036146..150038991-chr6:150182749..150185016,3	K562	blood:
10	chr6:150037040..150038886-chr6:150185486..150187035,2	K562	blood:

Variant related genes	Relation type
LATS1	TF binding region
ENSG00000186625	Chromatin interaction
ENSG00000131023	Chromatin interaction
ENSG00000120256	Chromatin interaction
ENSG00000131013	Chromatin interaction
ENSG00000268592	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000120253	Chromatin interaction
ENSG00000120265	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs35385791	1.00[AMR][1000 genomes]
rs36041750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55972851	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73006825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9766288	1.00[AFR][1000 genomes];0.92[AMR][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	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1792620	chr6:149909491-150083621	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv3475167	chr6:150003006-150086225	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv3475168	chr6:150003006-150086225	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv1803291	chr6:150018508-150164190	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150005600-150037800	Weak transcription	Gastric	stomach
2	chr6:150023200-150038200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:150028000-150038400	Weak transcription	Spleen	Spleen
4	chr6:150029600-150038400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:150030400-150037800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:150030400-150037800	Weak transcription	Aorta	Aorta
7	chr6:150030600-150037600	Weak transcription	Fetal Brain Female	brain
8	chr6:150030600-150037800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:150030800-150037600	Weak transcription	Right Ventricle	heart
10	chr6:150031200-150038200	Weak transcription	Placenta	Placenta
11	chr6:150031800-150038400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:150033200-150037600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:150034200-150037600	Weak transcription	Fetal Intestine Small	intestine
14	chr6:150034200-150037800	Weak transcription	Fetal Stomach	stomach
15	chr6:150035400-150040000	Active TSS	GM12878-XiMat	blood
16	chr6:150036000-150037600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:150036000-150037600	Enhancers	Ovary	ovary
18	chr6:150036200-150037600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:150036400-150037600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:150036400-150037600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:150036400-150037800	Enhancers	Brain Cingulate Gyrus	brain
22	chr6:150036400-150037800	Enhancers	Small Intestine	intestine
23	chr6:150036600-150037800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr6:150036600-150038400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:150036800-150040200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:150037000-150037600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:150037000-150037600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:150037000-150037600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:150037000-150037600	Enhancers	Fetal Brain Male	brain
30	chr6:150037000-150037800	Enhancers	Primary B cells from peripheral blood	blood
31	chr6:150037000-150037800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr6:150037000-150037800	Flanking Active TSS	HepG2	liver
33	chr6:150037000-150038000	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr6:150037000-150038000	Flanking Active TSS	K562	blood
35	chr6:150037000-150038200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr6:150037000-150038400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:150037000-150038800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr6:150037000-150038800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:150037000-150039800	Active TSS	NHDF-Ad	bronchial
40	chr6:150037200-150037600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr6:150037200-150037600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:150037200-150037600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:150037200-150037600	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr6:150037200-150037600	Enhancers	Fetal Muscle Leg	muscle
45	chr6:150037200-150037600	Enhancers	Fetal Thymus	thymus
46	chr6:150037200-150037600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr6:150037200-150037600	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr6:150037200-150037600	Flanking Active TSS	Thymus	Thymus
49	chr6:150037200-150037600	Flanking Active TSS	A549	lung
50	chr6:150037200-150037600	Flanking Active TSS	Hela-S3	cervix

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