Variant report

Variant	rs11751711
Chromosome Location	chr6:27125678-27125679
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27124529..27127097-chr6:27791591..27794445,2	K562	blood:
2	chr6:27094600..27095740-chr6:27125386..27126369,4	K562	blood:
3	chr6:26607637..26608158-chr6:27125324..27125883,2	MCF-7	breast:
4	chr6:27124582..27127541-chr6:27758021..27760797,2	K562	blood:
5	chr6:27123211..27127154-chr6:27858700..27862425,3	K562	blood:
6	chr6:27124529..27126942-chr6:27720154..27721836,2	K562	blood:
7	chr6:27111360..27127716-chr6:27768319..27787545,69	MCF-7	breast:
8	chr6:26155627..26158355-chr6:27123950..27127373,3	K562	blood:
9	chr6:27124141..27131442-chr6:27773840..27780959,15	K562	blood:
10	chr6:27094540..27095379-chr6:27125291..27126127,4	MCF-7	breast:
11	chr6:27124780..27127221-chr6:27160550..27163070,2	K562	blood:
12	chr6:27124389..27126074-chr6:27173688..27175728,2	K562	blood:
13	chr6:26986606..26988221-chr6:27124102..27125749,2	K562	blood:
14	chr6:27124335..27127582-chr6:27143975..27147070,5	MCF-7	breast:
15	chr6:27124460..27128154-chr6:27128397..27131899,6	MCF-7	breast:
16	chr6:26239620..26242431-chr6:27124638..27127382,2	MCF-7	breast:
17	chr6:27094500..27095526-chr6:27124814..27125750,5	MCF-7	breast:
18	chr6:26102621..26104943-chr6:27124339..27126497,2	K562	blood:
19	chr6:27124395..27126679-chr6:27463309..27464874,2	K562	blood:
20	chr6:27114666..27115358-chr6:27125576..27126206,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000158373	Chromatin interaction
ENSG00000198327	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000238621	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000197238	Chromatin interaction
ENSG00000197061	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000203813	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10484392	1.00[MEX][hapmap]
rs10484393	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11751254	0.88[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs11751689	1.00[AMR][1000 genomes]
rs11753970	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11755181	1.00[AMR][1000 genomes]
rs11757483	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11758093	1.00[MEX][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12110621	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12111326	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894088	1.00[AMR][1000 genomes]
rs16894325	1.00[MEX][hapmap]
rs16894520	1.00[MEX][hapmap]
rs16897529	1.00[MEX][hapmap]
rs2393912	0.86[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs2393913	1.00[AMR][1000 genomes]
rs2393914	1.00[AMR][1000 genomes]
rs36002224	1.00[AMR][1000 genomes]
rs55792674	1.00[AMR][1000 genomes]
rs56051102	1.00[AMR][1000 genomes]
rs56065824	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56258900	1.00[AMR][1000 genomes]
rs56970208	1.00[AMR][1000 genomes]
rs57331553	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57930834	1.00[AMR][1000 genomes]
rs58104274	1.00[AMR][1000 genomes]
rs59159741	1.00[AMR][1000 genomes]
rs59405634	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59701289	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61050868	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739525	1.00[AMR][1000 genomes]
rs73739528	1.00[AMR][1000 genomes]
rs73739530	1.00[AMR][1000 genomes]
rs73739535	1.00[AMR][1000 genomes]
rs73739536	1.00[AMR][1000 genomes]
rs73739539	1.00[AMR][1000 genomes]
rs73739541	1.00[AMR][1000 genomes]
rs73739543	1.00[AMR][1000 genomes]
rs73739544	1.00[AMR][1000 genomes]
rs73739550	1.00[AMR][1000 genomes]
rs73739551	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739552	1.00[AMR][1000 genomes]
rs73739553	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739558	1.00[AMR][1000 genomes]
rs73739560	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739561	1.00[AMR][1000 genomes]
rs73739563	1.00[AMR][1000 genomes]
rs73739565	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739567	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739569	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739571	1.00[AMR][1000 genomes]
rs73739574	1.00[AMR][1000 genomes]
rs73739583	1.00[AMR][1000 genomes]
rs73739584	1.00[AMR][1000 genomes]
rs73739601	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs858971	1.00[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27124600-27126000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:27124800-27125800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr6:27124800-27125800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:27124800-27125800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:27124800-27126000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:27124800-27126000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr6:27124800-27126000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:27124800-27126000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:27124800-27126000	Active TSS	Fetal Kidney	kidney
10	chr6:27124800-27126000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:27124800-27126000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:27124800-27126200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr6:27124800-27126200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr6:27124800-27126200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:27124800-27126200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr6:27124800-27126200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:27124800-27126400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:27124800-27126400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:27125000-27125800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:27125000-27125800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:27125000-27125800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr6:27125000-27125800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr6:27125000-27125800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr6:27125000-27125800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr6:27125000-27125800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr6:27125000-27125800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:27125000-27125800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr6:27125000-27125800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr6:27125000-27125800	Flanking Active TSS	Placenta	Placenta
30	chr6:27125000-27125800	Active TSS	Right Atrium	heart
31	chr6:27125000-27125800	Flanking Active TSS	GM12878-XiMat	blood
32	chr6:27125000-27126000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:27125000-27126000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:27125000-27126000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:27125000-27126000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:27125000-27126000	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr6:27125000-27126000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr6:27125000-27126000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:27125000-27126000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr6:27125000-27126000	Active TSS	Muscle Satellite Cultured Cells	--
41	chr6:27125000-27126000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr6:27125000-27126000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:27125000-27126000	Flanking Active TSS	Liver	Liver
44	chr6:27125000-27126000	Active TSS	Brain Anterior Caudate	brain
45	chr6:27125000-27126000	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr6:27125000-27126000	Flanking Active TSS	Fetal Thymus	thymus
47	chr6:27125000-27126000	Active TSS	Ovary	ovary
48	chr6:27125000-27126000	Active TSS	Right Ventricle	heart
49	chr6:27125000-27126000	Active TSS	HSMM	muscle
50	chr6:27125000-27126000	Active TSS	HSMMtube	muscle

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