Variant report

Variant	rs60718050
Chromosome Location	chr11:72717349-72717350
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72713297..72718110-chr11:72852062..72855076,4	K562	blood:

Variant related genes	Relation type
ENSG00000137478	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60288681	1.00[AMR][1000 genomes]
rs7108924	1.00[AMR][1000 genomes]
rs73532927	1.00[AMR][1000 genomes]
rs73534926	1.00[AMR][1000 genomes]
rs73545310	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422418	chr11:72646518-72807865	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv555411	chr11:72647296-72800970	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72637000-72721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:72649000-72721600	Weak transcription	Thymus	Thymus
3	chr11:72666600-72721600	Weak transcription	Lung	lung
4	chr11:72669800-72721800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:72681800-72720200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:72682800-72721600	Weak transcription	Right Ventricle	heart
7	chr11:72684000-72721600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:72686600-72721600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:72687600-72722200	Weak transcription	NHLF	lung
10	chr11:72687600-72724200	Weak transcription	HMEC	breast
11	chr11:72688600-72721600	Weak transcription	Brain Germinal Matrix	brain
12	chr11:72689800-72717800	Weak transcription	Psoas Muscle	Psoas
13	chr11:72689800-72718400	Weak transcription	Fetal Intestine Small	intestine
14	chr11:72693400-72721600	Weak transcription	Left Ventricle	heart
15	chr11:72695600-72720400	Weak transcription	Adipose Nuclei	Adipose
16	chr11:72695800-72720000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:72696000-72720200	Weak transcription	Fetal Intestine Large	intestine
18	chr11:72696000-72720800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:72696000-72724000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:72697000-72718400	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:72697000-72721600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:72697200-72720600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:72699200-72721600	Weak transcription	HSMM	muscle
24	chr11:72699600-72720200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr11:72700000-72720800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:72700400-72719800	Weak transcription	Primary T cells from cord blood	blood
27	chr11:72700600-72718800	Weak transcription	Fetal Brain Female	brain
28	chr11:72700600-72720600	Weak transcription	Fetal Brain Male	brain
29	chr11:72700800-72720400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:72701000-72720200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:72701000-72721600	Weak transcription	Pancreas	Pancrea
32	chr11:72701000-72727200	Weak transcription	HUVEC	blood vessel
33	chr11:72701200-72721600	Weak transcription	Ovary	ovary
34	chr11:72705400-72721600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:72705600-72720600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:72705600-72721000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:72708200-72717600	Weak transcription	Brain Angular Gyrus	brain
38	chr11:72708200-72720400	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:72708400-72717600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:72708400-72717600	Weak transcription	HepG2	liver
41	chr11:72708400-72717600	Weak transcription	HSMMtube	muscle
42	chr11:72708400-72720600	Weak transcription	Brain Substantia Nigra	brain
43	chr11:72708400-72721600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:72708600-72720600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:72709000-72720800	Weak transcription	Liver	Liver
46	chr11:72711000-72717600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:72711000-72721600	Weak transcription	Aorta	Aorta
48	chr11:72711200-72720200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr11:72711200-72721600	Weak transcription	Osteobl	bone
50	chr11:72711200-72723000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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