Variant report

Variant	rs7711473
Chromosome Location	chr5:94984135-94984136
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:94982383..94984588-chr5:95046353..95049787,5	MCF-7	breast:
2	chr5:94981556..94984192-chr5:95101303..95104225,2	MCF-7	breast:
3	chr5:94981368..94988467-chr5:95046173..95051252,17	K562	blood:
4	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
5	chr5:94982379..94987076-chr5:95045372..95049493,6	K562	blood:
6	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:
7	chr5:94979988..94984168-chr5:95032454..95035928,4	MCF-7	breast:
8	chr5:94888891..94893786-chr5:94981389..94987516,11	K562	blood:
9	chr5:94980861..94985410-chr5:95067178..95071099,5	MCF-7	breast:
10	chr5:94889492..94895025-chr5:94981557..94985063,8	K562	blood:
11	chr5:90676216..90679010-chr5:94981409..94984145,2	K562	blood:
12	chr5:94979432..94984462-chr5:95062276..95069972,15	MCF-7	breast:
13	chr5:94981340..94984731-chr5:95103817..95108133,4	K562	blood:
14	chr5:94981287..94984175-chr5:95296229..95298674,3	K562	blood:
15	chr5:94981172..94985318-chr5:95169805..95176246,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000118985	Chromatin interaction
ENSG00000164292	Chromatin interaction
ENSG00000164291	Chromatin interaction
ENSG00000145757	Chromatin interaction
ENSG00000251348	Chromatin interaction
ENSG00000198677	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000251314	Chromatin interaction
ENSG00000251000	Chromatin interaction
ENSG00000250240	Chromatin interaction

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

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

rs_ID	r²[population]
rs11953243	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2016077	0.81[AFR][1000 genomes]
rs60323781	1.00[AMR][1000 genomes]
rs7710252	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7719748	0.86[AFR][1000 genomes];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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv598960	chr5:94975592-94988482	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94982400-94986000	Active TSS	K562	blood
2	chr5:94982600-94984200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:94982800-94984200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr5:94983000-94984200	Flanking Active TSS	GM12878-XiMat	blood
5	chr5:94983200-94984200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:94983200-94984200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:94983200-94984200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:94983200-95005000	Weak transcription	Left Ventricle	heart
9	chr5:94983400-94984200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr5:94983400-94984200	Enhancers	Fetal Intestine Small	intestine
11	chr5:94983400-94984600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr5:94983400-94985000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:94983400-94988000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:94983400-94990200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:94983400-95005000	Weak transcription	Placenta	Placenta
16	chr5:94983600-94984200	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:94983600-94984200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr5:94983600-94984600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr5:94983600-94985600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:94983600-94988400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:94983600-94991000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:94983600-94991000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:94983600-94991000	Weak transcription	Thymus	Thymus
24	chr5:94983600-94999800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr5:94983600-95000000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:94983600-95000000	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:94983600-95000200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:94983600-95005000	Weak transcription	Adipose Nuclei	Adipose
29	chr5:94983800-94984200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:94983800-94984200	Enhancers	Fetal Heart	heart
31	chr5:94983800-94984200	Enhancers	NHEK	skin
32	chr5:94983800-94984600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr5:94983800-94984600	Enhancers	Duodenum Mucosa	Duodenum
34	chr5:94983800-94985200	Enhancers	Dnd41	blood
35	chr5:94983800-94985400	Enhancers	Primary T cells from cord blood	blood
36	chr5:94983800-94987800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:94983800-94988000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:94983800-94988400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:94983800-94990200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:94983800-94990200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:94983800-94991000	Weak transcription	Fetal Thymus	thymus
42	chr5:94983800-94991200	Weak transcription	Fetal Lung	lung
43	chr5:94983800-94999800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:94983800-94999800	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:94983800-95000000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:94983800-95004800	Weak transcription	Psoas Muscle	Psoas
47	chr5:94984000-94984400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:94984000-94984600	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr5:94984000-94985000	Weak transcription	Liver	Liver
50	chr5:94984000-94985200	Weak transcription	Hela-S3	cervix

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