Variant report

Variant	rs55702639
Chromosome Location	chr6:30804958-30804959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30800474..30806072-chr6:30842215..30847924,9	K562	blood:
2	chr6:30803676..30806179-chr6:30849399..30852097,2	MCF-7	breast:
3	chr6:30796516..30799472-chr6:30801979..30805833,4	MCF-7	breast:
4	chr6:30799998..30802555-chr6:30804287..30805987,2	MCF-7	breast:
5	chr6:30709350..30712510-chr6:30802787..30805110,3	MCF-7	breast:
6	chr6:30793601..30795460-chr6:30804124..30806213,2	K562	blood:
7	chr6:30780643..30783504-chr6:30803282..30805852,2	K562	blood:

Variant related genes	Relation type
ENSG00000137312	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000237775	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000214894	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55707154	1.00[ASN][1000 genomes]
rs55763002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55848160	1.00[ASN][1000 genomes]
rs56051116	1.00[ASN][1000 genomes]
rs56105977	1.00[ASN][1000 genomes]
rs56111713	1.00[ASN][1000 genomes]
rs56123606	1.00[ASN][1000 genomes]
rs56133130	1.00[ASN][1000 genomes]
rs56183784	1.00[ASN][1000 genomes]
rs56327229	1.00[ASN][1000 genomes]
rs56377503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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:9 , 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
9	nsv526110	chr6:30800577-30810654	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30796200-30805600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:30796200-30805600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:30796400-30805200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:30796400-30805400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:30796800-30811000	Weak transcription	Right Ventricle	heart
6	chr6:30797000-30808400	Weak transcription	Esophagus	oesophagus
7	chr6:30797200-30812000	Weak transcription	Lung	lung
8	chr6:30798000-30805600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:30798000-30805600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:30798000-30805600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:30798400-30809000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:30798800-30805600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:30798800-30806200	Weak transcription	GM12878-XiMat	blood
14	chr6:30799200-30812200	Weak transcription	Spleen	Spleen
15	chr6:30799800-30805600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr6:30800400-30805000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:30800600-30807400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:30802200-30805000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:30802200-30805000	Enhancers	Osteobl	bone
20	chr6:30802200-30805200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:30802600-30805000	Enhancers	Placenta	Placenta
22	chr6:30802800-30805400	Weak transcription	Primary B cells from cord blood	blood
23	chr6:30802800-30805400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:30802800-30805600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr6:30802800-30805800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:30802800-30806000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:30803000-30805600	Weak transcription	K562	blood
28	chr6:30803000-30807400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:30803200-30806200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:30803200-30808200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr6:30803200-30808600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:30803200-30808800	Weak transcription	Primary T cells from cord blood	blood
33	chr6:30803200-30809200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:30803200-30809200	Weak transcription	Right Atrium	heart
35	chr6:30803200-30811400	Enhancers	Fetal Thymus	thymus
36	chr6:30803200-30811400	Enhancers	Thymus	Thymus
37	chr6:30803400-30805600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:30803400-30808200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:30803400-30808800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:30803400-30809400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr6:30803600-30805400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:30803600-30805600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:30803600-30806200	Enhancers	Hela-S3	cervix
44	chr6:30803600-30806400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:30803600-30808400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:30803600-30808800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr6:30803800-30805200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr6:30803800-30805200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr6:30803800-30811200	Enhancers	Dnd41	blood
50	chr6:30804000-30805000	Enhancers	Fetal Muscle Leg	muscle

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