Variant report

Variant	rs55707154
Chromosome Location	chr6:30798681-30798682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr6:30798263-30798862	HL-60	blood:	n/a	n/a
2	TAF1	chr6:30798366-30798692	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:30796869-30800063	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30796384..30798794-chr6:30876100..30879027,2	MCF-7	breast:
2	chr6:30797838..30800047-chr6:30860425..30862071,2	K562	blood:
3	chr6:30794216..30799803-chr6:30838849..30846731,16	K562	blood:
4	chr6:30793814..30798702-chr6:30880453..30884092,5	K562	blood:
5	chr6:30798389..30801828-chr6:30850243..30854490,5	MCF-7	breast:
6	chr6:30703666..30722133-chr6:30776009..30801352,184	MCF-7	breast:
7	chr6:30780598..30803497-chr6:30842531..30855110,80	MCF-7	breast:
8	chr6:30796535..30799180-chr6:30856343..30859199,3	MCF-7	breast:
9	chr6:30796590..30799414-chr6:30814456..30816508,2	K562	blood:
10	chr6:30703055..30723531-chr6:30783853..30800217,151	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00243	TF binding region
ENSG00000264594	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000237923	Chromatin interaction
ENSG00000263608	Chromatin interaction
ENSG00000201988	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000237775	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000213780	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1264361	1.00[ASN][1000 genomes]
rs3095334	1.00[ASN][1000 genomes]
rs3129978	1.00[ASN][1000 genomes]
rs3129980	1.00[ASN][1000 genomes]
rs3129981	1.00[ASN][1000 genomes]
rs3129982	1.00[ASN][1000 genomes]
rs3129983	1.00[ASN][1000 genomes]
rs3129985	1.00[ASN][1000 genomes]
rs3130641	1.00[ASN][1000 genomes]
rs3130665	1.00[ASN][1000 genomes]
rs3130669	1.00[ASN][1000 genomes]
rs3130673	1.00[ASN][1000 genomes]
rs3131041	1.00[ASN][1000 genomes]
rs3131044	1.00[ASN][1000 genomes]
rs3131045	1.00[ASN][1000 genomes]
rs3131047	1.00[ASN][1000 genomes]
rs3131048	1.00[ASN][1000 genomes]
rs3131049	1.00[ASN][1000 genomes]
rs3131050	1.00[ASN][1000 genomes]
rs3131055	1.00[ASN][1000 genomes]
rs3131058	1.00[ASN][1000 genomes]
rs3131060	1.00[ASN][1000 genomes]
rs3132599	1.00[ASN][1000 genomes]
rs3132605	1.00[ASN][1000 genomes]
rs45565239	1.00[ASN][1000 genomes]
rs55694686	1.00[ASN][1000 genomes]
rs55702639	1.00[ASN][1000 genomes]
rs55848160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56051116	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105977	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56111713	1.00[ASN][1000 genomes]
rs56123606	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56133130	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56183784	1.00[ASN][1000 genomes]
rs56327229	1.00[ASN][1000 genomes]
rs56377503	1.00[ASN][1000 genomes]
rs56804692	1.00[ASN][1000 genomes]
rs886424	1.00[ASN][1000 genomes]
rs886425	1.00[ASN][1000 genomes]
rs9262200	1.00[ASN][1000 genomes]
rs9262202	1.00[ASN][1000 genomes]
rs9262203	1.00[ASN][1000 genomes]
rs9262204	1.00[ASN][1000 genomes]
rs9468857	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
6	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
8	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30795000-30798800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:30795000-30799000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr6:30795200-30798800	Flanking Active TSS	Thymus	Thymus
4	chr6:30795800-30798800	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:30795800-30799400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr6:30796000-30799000	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr6:30796000-30799000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr6:30796000-30799200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr6:30796200-30805600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:30796200-30805600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:30796400-30798800	Enhancers	K562	blood
12	chr6:30796400-30805200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:30796400-30805400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:30796600-30798800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:30796600-30798800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:30796800-30799400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:30796800-30802200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:30796800-30802200	Weak transcription	HSMM	muscle
19	chr6:30796800-30802400	Weak transcription	Right Atrium	heart
20	chr6:30796800-30804000	Weak transcription	Fetal Heart	heart
21	chr6:30796800-30804000	Weak transcription	Fetal Lung	lung
22	chr6:30796800-30804400	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:30796800-30811000	Weak transcription	Right Ventricle	heart
24	chr6:30797000-30802200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:30797000-30802200	Weak transcription	Osteobl	bone
26	chr6:30797000-30804000	Weak transcription	Adipose Nuclei	Adipose
27	chr6:30797000-30804000	Weak transcription	Left Ventricle	heart
28	chr6:30797000-30808400	Weak transcription	Esophagus	oesophagus
29	chr6:30797200-30804000	Weak transcription	Psoas Muscle	Psoas
30	chr6:30797200-30812000	Weak transcription	Lung	lung
31	chr6:30797600-30802200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:30797600-30802200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:30797800-30798800	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr6:30797800-30798800	Flanking Active TSS	Dnd41	blood
35	chr6:30797800-30798800	Enhancers	GM12878-XiMat	blood
36	chr6:30797800-30799000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr6:30798000-30798800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:30798000-30799000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:30798000-30799200	Enhancers	Spleen	Spleen
40	chr6:30798000-30799600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:30798000-30802400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:30798000-30805600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:30798000-30805600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr6:30798000-30805600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:30798200-30798800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr6:30798200-30798800	Enhancers	Fetal Muscle Leg	muscle
47	chr6:30798400-30798800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:30798400-30798800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:30798400-30798800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr6:30798400-30799000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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