Variant report

Variant	rs6591417
Chromosome Location	chr11:57058499-57058500
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57057864..57060115-chr11:57077386..57079092,2	K562	blood:
2	chr11:57058210..57060578-chr11:57077243..57079019,2	MCF-7	breast:
3	chr11:57054119..57055817-chr11:57056787..57058987,2	K562	blood:

Variant related genes	Relation type
ENSG00000149115	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10896595	0.92[ASN][1000 genomes]
rs10896597	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896599	0.89[ASN][1000 genomes]
rs11228968	0.95[ASN][1000 genomes]
rs11228975	0.95[ASN][1000 genomes]
rs11228976	0.95[ASN][1000 genomes]
rs11228978	0.95[ASN][1000 genomes]
rs11228980	0.95[ASN][1000 genomes]
rs11228982	0.88[ASN][1000 genomes]
rs11228984	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228985	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11600878	0.89[ASN][1000 genomes]
rs11604560	0.95[ASN][1000 genomes]
rs11604778	0.84[ASN][1000 genomes]
rs11605053	0.98[ASN][1000 genomes]
rs11607817	0.95[ASN][1000 genomes]
rs12419065	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12421633	0.95[ASN][1000 genomes]
rs12421755	0.95[ASN][1000 genomes]
rs12792781	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797769	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17572970	0.95[ASN][1000 genomes]
rs17651610	0.95[ASN][1000 genomes]
rs17652078	0.95[ASN][1000 genomes]
rs1892963	0.95[ASN][1000 genomes]
rs1892964	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1939489	0.98[ASN][1000 genomes]
rs1939495	0.95[ASN][1000 genomes]
rs2155230	0.95[ASN][1000 genomes]
rs2155231	0.87[ASN][1000 genomes]
rs2226613	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2511026	0.83[ASN][1000 genomes]
rs2511029	0.87[ASN][1000 genomes]
rs2511030	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2846042	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2846050	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2846051	0.85[ASN][1000 genomes]
rs2851722	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35610294	0.93[ASN][1000 genomes]
rs3935068	0.96[ASN][1000 genomes]
rs4384399	0.95[ASN][1000 genomes]
rs4565915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs479949	0.92[ASN][1000 genomes]
rs4938855	0.95[ASN][1000 genomes]
rs4938857	0.95[ASN][1000 genomes]
rs4938859	0.94[ASN][1000 genomes]
rs4938861	0.95[ASN][1000 genomes]
rs4939132	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs499318	0.91[ASN][1000 genomes]
rs5012051	0.90[ASN][1000 genomes]
rs519277	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs522656	0.87[ASN][1000 genomes]
rs528101	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58295319	0.97[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs590240	0.87[ASN][1000 genomes]
rs599947	0.87[ASN][1000 genomes]
rs625565	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs652016	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs654635	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6591413	0.95[ASN][1000 genomes]
rs6591415	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6591416	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102963	0.95[ASN][1000 genomes]
rs7120644	0.95[ASN][1000 genomes]
rs7128371	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130252	0.95[ASN][1000 genomes]
rs72921992	0.97[ASN][1000 genomes]
rs7935236	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57046000-57062000	Weak transcription	Right Atrium	heart
2	chr11:57051800-57062000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:57052200-57060400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:57052400-57078200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:57055200-57063400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:57056000-57058600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:57056800-57060400	Weak transcription	Esophagus	oesophagus
8	chr11:57056800-57060400	Weak transcription	Placenta	Placenta
9	chr11:57056800-57062200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:57056800-57064200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:57056800-57065400	Weak transcription	Fetal Heart	heart
12	chr11:57057000-57060600	Weak transcription	Pancreas	Pancrea
13	chr11:57057000-57060800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:57057000-57061800	Weak transcription	Fetal Stomach	stomach
15	chr11:57057000-57062000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:57057000-57062200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:57057000-57064800	Weak transcription	Spleen	Spleen
18	chr11:57057000-57065200	Weak transcription	Brain Hippocampus Middle	brain
19	chr11:57057000-57066400	Weak transcription	Colonic Mucosa	Colon
20	chr11:57057000-57066800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:57057200-57059800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:57057200-57059800	Enhancers	HSMMtube	muscle
23	chr11:57057200-57060200	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:57057200-57060400	Enhancers	HepG2	liver
25	chr11:57057200-57060600	Weak transcription	Adipose Nuclei	Adipose
26	chr11:57057200-57060600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:57057200-57060800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:57057200-57061000	Weak transcription	Lung	lung
29	chr11:57057200-57061800	Weak transcription	Fetal Lung	lung
30	chr11:57057200-57062000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:57057200-57062000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:57057200-57062400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:57057200-57065000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:57057200-57065200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:57057200-57066400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:57057200-57066800	Weak transcription	Brain Substantia Nigra	brain
37	chr11:57057400-57060400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:57057400-57060400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:57057400-57061800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:57057400-57061800	Weak transcription	Brain Anterior Caudate	brain
41	chr11:57057400-57062000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:57057400-57062000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:57057400-57063800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:57057400-57064400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:57057400-57065800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:57057400-57066600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:57057800-57058600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:57057800-57060400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:57057800-57060400	Weak transcription	Stomach Mucosa	stomach
50	chr11:57057800-57061800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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