Variant report

Variant	rs1032485
Chromosome Location	chr5:43480252-43480253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:43480133-43480733	Hela-S3	cervix:	n/a	n/a
2	GTF2F1	chr5:43480218-43480354	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43459318..43461346-chr5:43477850..43480829,2	K562	blood:
2	chr5:43308985..43311687-chr5:43479244..43481066,2	MCF-7	breast:
3	chr5:43420789..43422517-chr5:43480138..43481780,2	K562	blood:
4	chr5:43479992..43486255-chr5:43553479..43560182,13	MCF-7	breast:
5	chr5:43478854..43481592-chr9:138370975..138373396,2	MCF-7	breast:
6	chr5:43458100..43461748-chr5:43479402..43482480,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249492	TF binding region
C5orf28	TF binding region
ENSG00000225361	Chromatin interaction
ENSG00000196422	Chromatin interaction
ENSG00000172239	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11547957	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6866716	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6895866	1.00[CHD][hapmap]
rs6897657	1.00[CHD][hapmap]

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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1802134	chr5:43476545-43492449	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	142 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43433800-43483400	Weak transcription	Gastric	stomach
2	chr5:43444000-43482600	Weak transcription	HMEC	breast
3	chr5:43444800-43482600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:43453800-43482600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:43454000-43482400	Weak transcription	Osteobl	bone
6	chr5:43454800-43482800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:43461000-43482400	Weak transcription	NHLF	lung
8	chr5:43461200-43482800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:43461200-43483400	Weak transcription	Pancreas	Pancrea
10	chr5:43462200-43482600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:43462200-43482600	Weak transcription	Fetal Stomach	stomach
12	chr5:43462200-43482800	Weak transcription	Right Ventricle	heart
13	chr5:43462400-43483000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:43462400-43483400	Weak transcription	Spleen	Spleen
15	chr5:43465600-43481200	Weak transcription	HepG2	liver
16	chr5:43467000-43482000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr5:43467000-43482800	Weak transcription	Primary T cells from cord blood	blood
18	chr5:43467200-43482800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:43467600-43482400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:43467800-43482400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:43468000-43482400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:43468000-43482600	Weak transcription	Adipose Nuclei	Adipose
23	chr5:43468000-43482800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:43468200-43482400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:43468200-43482600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:43468200-43482600	Weak transcription	Liver	Liver
27	chr5:43468200-43482600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:43468200-43482800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:43468200-43482800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:43468200-43482800	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:43468200-43482800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:43468200-43482800	Weak transcription	Colon Smooth Muscle	Colon
33	chr5:43468200-43482800	Weak transcription	Fetal Thymus	thymus
34	chr5:43468200-43482800	Weak transcription	Thymus	Thymus
35	chr5:43468200-43483200	Weak transcription	Aorta	Aorta
36	chr5:43468600-43482400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:43468800-43482800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr5:43468800-43483400	Weak transcription	Ovary	ovary
39	chr5:43469200-43482400	Weak transcription	Fetal Lung	lung
40	chr5:43470200-43481800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:43470200-43482200	Weak transcription	HSMMtube	muscle
42	chr5:43470200-43483000	Weak transcription	Fetal Intestine Small	intestine
43	chr5:43470600-43483400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:43470800-43482200	Weak transcription	HSMM	muscle
45	chr5:43470800-43483200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:43470800-43483200	Weak transcription	Placenta	Placenta
47	chr5:43470800-43483200	Weak transcription	Left Ventricle	heart
48	chr5:43472200-43482600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:43472200-43482600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:43472200-43483400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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