Variant report

Variant	rs59700555
Chromosome Location	chr11:72447283-72447284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72440158..72444613-chr11:72446790..72449763,6	K562	blood:
2	chr11:72445468..72449212-chr11:72493216..72495256,3	MCF-7	breast:
3	chr11:72445723..72448250-chr11:72530933..72533286,2	K562	blood:
4	chr11:72441893..72446112-chr11:72446324..72449396,4	K562	blood:
5	chr11:72445144..72447401-chr11:72452350..72454183,2	K562	blood:
6	chr11:72444412..72447867-chr11:72449719..72452894,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214530	Chromatin interaction
ENSG00000265064	Chromatin interaction
ENSG00000168010	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12287469	1.00[EUR][1000 genomes]
rs12419767	1.00[EUR][1000 genomes]
rs519201	1.00[EUR][1000 genomes]
rs55816648	1.00[EUR][1000 genomes]
rs56251316	1.00[EUR][1000 genomes]
rs57712040	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58196942	0.92[AFR][1000 genomes]
rs58756839	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59308438	0.92[AFR][1000 genomes]
rs60057195	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61083756	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs615703	1.00[EUR][1000 genomes]
rs61661445	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73543236	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72433600-72447800	Weak transcription	Aorta	Aorta
2	chr11:72433600-72452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:72434000-72452200	Weak transcription	Small Intestine	intestine
4	chr11:72434200-72447600	Weak transcription	Right Ventricle	heart
5	chr11:72434200-72448200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:72434600-72447600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:72435600-72449600	Weak transcription	Pancreas	Pancrea
8	chr11:72436600-72447400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:72437400-72447400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:72437800-72449000	Weak transcription	Colonic Mucosa	Colon
11	chr11:72438000-72447800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:72438600-72448000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:72438800-72447400	Weak transcription	Esophagus	oesophagus
14	chr11:72443800-72447400	Weak transcription	Dnd41	blood
15	chr11:72443800-72447400	Weak transcription	HSMMtube	muscle
16	chr11:72444400-72447400	Weak transcription	Brain Angular Gyrus	brain
17	chr11:72444400-72447400	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:72444400-72447400	Weak transcription	Thymus	Thymus
19	chr11:72444400-72447800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr11:72444400-72449000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:72444600-72447600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:72444600-72447600	Weak transcription	Brain Substantia Nigra	brain
23	chr11:72445400-72447600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:72445400-72447800	Enhancers	Primary B cells from peripheral blood	blood
25	chr11:72445400-72448400	Enhancers	Rectal Smooth Muscle	rectum
26	chr11:72445400-72448600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:72445400-72448600	Enhancers	Fetal Heart	heart
28	chr11:72445600-72447600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:72445600-72448200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:72445600-72448200	Enhancers	Fetal Stomach	stomach
31	chr11:72445600-72448400	Enhancers	Stomach Smooth Muscle	stomach
32	chr11:72446000-72453400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr11:72446200-72448400	Enhancers	Left Ventricle	heart
34	chr11:72446200-72455400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr11:72446400-72447400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:72446400-72447400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:72446400-72447600	Enhancers	A549	lung
38	chr11:72446400-72447800	Enhancers	Colon Smooth Muscle	Colon
39	chr11:72446400-72448600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr11:72446600-72447400	Enhancers	HUVEC	blood vessel
41	chr11:72446600-72447600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:72446600-72447600	Enhancers	HSMM	muscle
43	chr11:72446600-72447600	Enhancers	NHEK	skin
44	chr11:72446600-72447800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr11:72446600-72447800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr11:72446600-72448000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr11:72446600-72448200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr11:72446600-72448200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr11:72446600-72448200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr11:72446600-72448400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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