Variant report

Variant	rs59043885
Chromosome Location	chr11:73090466-73090467
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11826366	0.87[AMR][1000 genomes]
rs60741352	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61528734	0.87[AMR][1000 genomes]
rs7104108	0.87[AMR][1000 genomes]
rs7939378	0.87[AMR][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	chr11:73088600-73090600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:73088600-73090600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:73088600-73090800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:73088600-73092600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:73088600-73093400	Weak transcription	Small Intestine	intestine
10	chr11:73088600-73094000	Weak transcription	Fetal Lung	lung
11	chr11:73088600-73100800	Enhancers	Placenta	Placenta
12	chr11:73088800-73090800	Weak transcription	Brain Substantia Nigra	brain
13	chr11:73088800-73091200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:73088800-73092000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:73088800-73093400	Enhancers	Right Ventricle	heart
16	chr11:73088800-73093600	Weak transcription	Fetal Intestine Small	intestine
17	chr11:73088800-73094000	Weak transcription	Fetal Brain Female	brain
18	chr11:73088800-73094000	Weak transcription	HSMM	muscle
19	chr11:73088800-73097800	Enhancers	Psoas Muscle	Psoas
20	chr11:73089000-73090600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:73089000-73090600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:73089000-73091000	Enhancers	K562	blood
23	chr11:73089000-73091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:73089000-73092800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:73089000-73093400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:73089000-73093600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:73089000-73093600	Weak transcription	HUVEC	blood vessel
28	chr11:73089000-73094000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:73089000-73094000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:73089000-73094000	Weak transcription	Fetal Brain Male	brain
31	chr11:73089000-73094200	Weak transcription	NH-A	brain
32	chr11:73089000-73094200	Weak transcription	NHDF-Ad	bronchial
33	chr11:73089000-73095000	Weak transcription	NHLF	lung
34	chr11:73089000-73096000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:73089000-73099600	Enhancers	A549	lung
36	chr11:73089000-73100600	Enhancers	Fetal Muscle Leg	muscle
37	chr11:73089000-73101000	Enhancers	Brain Hippocampus Middle	brain
38	chr11:73089200-73090600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr11:73089200-73090600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:73089200-73091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr11:73089200-73091000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:73089200-73091000	Enhancers	Fetal Thymus	thymus
43	chr11:73089200-73091200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:73089200-73092600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:73089200-73093600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:73089200-73093600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:73089200-73093800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:73089200-73094000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:73089200-73094800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:73089200-73095600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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