Variant report

Variant	rs56801796
Chromosome Location	chr11:73090265-73090266
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73052088..73053863-chr11:73088723..73090410,2	K562	blood:
2	chr11:73052756..73055685-chr11:73086112..73090323,4	MCF-7	breast:
3	chr11:73067211..73073171-chr11:73086403..73091347,7	K562	blood:
4	chr11:73042602..73045462-chr11:73088644..73091188,2	K562	blood:
5	chr11:73068546..73070976-chr11:73088795..73090535,2	K562	blood:
6	chr11:73089858..73092055-chr11:73116123..73118154,2	K562	blood:
7	chr11:73060033..73062421-chr11:73088511..73090562,2	MCF-7	breast:
8	chr11:72995736..72998591-chr11:73090092..73091920,2	K562	blood:
9	chr11:73070623..73072623-chr11:73089095..73090847,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266866	Chromatin interaction
ENSG00000256448	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1002126	0.83[ASN][1000 genomes]
rs10047442	0.83[EUR][1000 genomes]
rs10793060	0.87[EUR][1000 genomes]
rs10898920	0.81[EUR][1000 genomes]
rs11235729	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11235743	0.87[EUR][1000 genomes]
rs11235746	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11820929	0.82[EUR][1000 genomes]
rs11823923	0.82[EUR][1000 genomes]
rs11824050	0.81[EUR][1000 genomes]
rs11824614	0.82[EUR][1000 genomes]
rs11826896	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11826909	0.83[ASN][1000 genomes]
rs12275766	0.81[EUR][1000 genomes]
rs12282282	0.82[EUR][1000 genomes]
rs12293998	0.81[EUR][1000 genomes]
rs12294659	0.81[EUR][1000 genomes]
rs1939382	0.84[EUR][1000 genomes]
rs2298807	0.84[EUR][1000 genomes]
rs28641751	0.83[ASN][1000 genomes]
rs3741148	0.87[EUR][1000 genomes]
rs57592318	0.81[EUR][1000 genomes]
rs58364325	0.81[EUR][1000 genomes]
rs60700454	0.82[EUR][1000 genomes]
rs6592519	0.81[EUR][1000 genomes]
rs6592520	0.81[EUR][1000 genomes]
rs6592523	0.89[EUR][1000 genomes]
rs7115605	0.88[EUR][1000 genomes]
rs7122560	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7127171	0.85[EUR][1000 genomes]
rs7131383	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7342205	0.81[EUR][1000 genomes]
rs73542998	0.84[EUR][1000 genomes]
rs7925573	0.84[EUR][1000 genomes]
rs7933754	0.81[EUR][1000 genomes]
rs7936102	0.81[EUR][1000 genomes]
rs7937066	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7944099	0.82[EUR][1000 genomes]
rs7945596	0.84[EUR][1000 genomes]
rs7951174	0.93[ASN][1000 genomes]
rs7952686	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs876480	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs880317	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73087800-73095200	Enhancers	Fetal Heart	heart
2	chr11:73088400-73092400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr11:73088400-73093400	Weak transcription	Gastric	stomach
4	chr11:73088400-73100200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr11:73088600-73090400	Weak transcription	Pancreas	Pancrea
6	chr11:73088600-73090600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:73088600-73090600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:73088600-73090800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr11:73088600-73092600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:73088600-73093400	Weak transcription	Small Intestine	intestine
11	chr11:73088600-73094000	Weak transcription	Fetal Lung	lung
12	chr11:73088600-73100800	Enhancers	Placenta	Placenta
13	chr11:73088800-73090400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:73088800-73090800	Weak transcription	Brain Substantia Nigra	brain
15	chr11:73088800-73091200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:73088800-73092000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:73088800-73093400	Enhancers	Right Ventricle	heart
18	chr11:73088800-73093600	Weak transcription	Fetal Intestine Small	intestine
19	chr11:73088800-73094000	Weak transcription	Fetal Brain Female	brain
20	chr11:73088800-73094000	Weak transcription	HSMM	muscle
21	chr11:73088800-73097800	Enhancers	Psoas Muscle	Psoas
22	chr11:73089000-73090600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr11:73089000-73090600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:73089000-73091000	Enhancers	K562	blood
25	chr11:73089000-73091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:73089000-73092800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:73089000-73093400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:73089000-73093600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:73089000-73093600	Weak transcription	HUVEC	blood vessel
30	chr11:73089000-73094000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:73089000-73094000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:73089000-73094000	Weak transcription	Fetal Brain Male	brain
33	chr11:73089000-73094200	Weak transcription	NH-A	brain
34	chr11:73089000-73094200	Weak transcription	NHDF-Ad	bronchial
35	chr11:73089000-73095000	Weak transcription	NHLF	lung
36	chr11:73089000-73096000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:73089000-73099600	Enhancers	A549	lung
38	chr11:73089000-73100600	Enhancers	Fetal Muscle Leg	muscle
39	chr11:73089000-73101000	Enhancers	Brain Hippocampus Middle	brain
40	chr11:73089200-73090400	Weak transcription	Lung	lung
41	chr11:73089200-73090600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr11:73089200-73090600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:73089200-73091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr11:73089200-73091000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:73089200-73091000	Enhancers	Fetal Thymus	thymus
46	chr11:73089200-73091200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:73089200-73092600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:73089200-73093600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:73089200-73093600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:73089200-73093800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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