Variant report

Variant	rs73338111
Chromosome Location	chr5:179106949-179106950
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179101962..179108661-chr5:179122383..179128408,19	MCF-7	breast:
2	chr5:179100838..179108153-chr5:179124449..179130181,22	K562	blood:
3	chr5:179049533..179052334-chr5:179104256..179107492,4	MCF-7	breast:
4	chr5:179104047..179107935-chr5:179157751..179161258,3	K562	blood:
5	chr5:179101603..179111989-chr5:179122927..179129527,32	MCF-7	breast:
6	chr5:179100989..179111182-chr5:179122076..179128627,19	K562	blood:
7	chr5:179047581..179051358-chr5:179102429..179108878,16	K562	blood:
8	chr5:179102368..179107935-chr5:179157286..179161555,5	K562	blood:
9	chr5:179048811..179053260-chr5:179101652..179108160,8	MCF-7	breast:
10	chr5:179104088..179107429-chr5:179222108..179224529,3	MCF-7	breast:
11	chr5:179048156..179052144-chr5:179103013..179109071,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161021	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000169045	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs56719864	1.00[AMR][1000 genomes]
rs57463529	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58722253	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59566858	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59651103	0.81[AFR][1000 genomes]
rs59680418	1.00[AMR][1000 genomes]
rs59721505	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59745533	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59824837	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60910702	1.00[AMR][1000 genomes]
rs61682673	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6887072	1.00[AMR][1000 genomes]
rs73338115	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342164	1.00[AMR][1000 genomes]
rs73342167	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73347986	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349908	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73351626	1.00[AMR][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	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179106000-179107000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:179106200-179107000	Enhancers	Primary hematopoietic stem cells	blood
3	chr5:179106200-179107600	Enhancers	Stomach Mucosa	stomach
4	chr5:179106200-179107600	Enhancers	HepG2	liver
5	chr5:179106200-179107800	Enhancers	Spleen	Spleen
6	chr5:179106200-179108000	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr5:179106400-179107400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:179106400-179107400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:179106400-179107600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:179106400-179107600	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:179106400-179107600	Enhancers	Fetal Intestine Small	intestine
12	chr5:179106400-179108200	Enhancers	Fetal Intestine Large	intestine
13	chr5:179106400-179108200	Enhancers	Placenta	Placenta
14	chr5:179106400-179108200	Enhancers	Gastric	stomach
15	chr5:179106400-179108200	Enhancers	Small Intestine	intestine
16	chr5:179106400-179118200	Weak transcription	Right Ventricle	heart
17	chr5:179106600-179107000	Weak transcription	Colonic Mucosa	Colon
18	chr5:179106600-179107000	Weak transcription	A549	lung
19	chr5:179106600-179107200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:179106600-179107200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:179106600-179107200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:179106600-179107200	Enhancers	Brain Cingulate Gyrus	brain
23	chr5:179106600-179107400	Enhancers	Primary B cells from cord blood	blood
24	chr5:179106600-179107400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr5:179106600-179107400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr5:179106600-179107400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:179106600-179107400	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr5:179106600-179107600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:179106600-179107600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:179106600-179107600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr5:179106600-179107600	Enhancers	Fetal Thymus	thymus
32	chr5:179106600-179107600	Enhancers	Dnd41	blood
33	chr5:179106600-179107600	Weak transcription	Hela-S3	cervix
34	chr5:179106600-179107600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr5:179106600-179107800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:179106600-179107800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr5:179106600-179107800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr5:179106600-179107800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr5:179106600-179107800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:179106600-179107800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr5:179106600-179108000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:179106600-179108000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:179106600-179108000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:179106600-179108000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr5:179106600-179108000	Enhancers	Brain Substantia Nigra	brain
46	chr5:179106600-179108000	Weak transcription	Esophagus	oesophagus
47	chr5:179106600-179108000	Weak transcription	Right Atrium	heart
48	chr5:179106600-179108000	Weak transcription	K562	blood
49	chr5:179106600-179108200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:179106600-179108200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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