Variant report

Variant	rs73250803
Chromosome Location	chr5:118625236-118625237
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118623648..118626074-chr5:118666762..118668589,2	MCF-7	breast:
2	chr5:118604065..118607023-chr5:118622337..118626495,5	MCF-7	breast:
3	chr5:118624542..118627216-chr5:118638693..118640326,2	MCF-7	breast:
4	chr5:118603937..118605815-chr5:118625009..118626718,2	K562	blood:
5	chr5:118623079..118625774-chr5:118657977..118661910,3	MCF-7	breast:
6	chr5:118624518..118627155-chr5:118657775..118661009,3	MCF-7	breast:
7	chr5:118623266..118625582-chr5:118625738..118628697,2	MCF-7	breast:
8	chr5:118613152..118615517-chr5:118623481..118626512,3	K562	blood:
9	chr5:118608930..118611747-chr5:118623733..118626239,2	MCF-7	breast:
10	chr5:118602857..118608494-chr5:118621291..118626100,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10452544	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10452545	1.00[AMR][1000 genomes]
rs12109360	1.00[AFR][1000 genomes]
rs17144974	1.00[AMR][1000 genomes]
rs57574427	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59344448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59473275	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59758980	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73235231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73235244	1.00[AMR][1000 genomes]
rs73248908	1.00[AMR][1000 genomes]
rs73248911	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248974	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248976	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248978	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248981	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248988	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248995	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252322	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118610800-118626000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:118613800-118626000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:118615000-118626200	Weak transcription	Spleen	Spleen
4	chr5:118618400-118627800	Weak transcription	Right Ventricle	heart
5	chr5:118619400-118628600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:118619800-118629600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:118620000-118629400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr5:118621000-118625800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr5:118621400-118627000	Weak transcription	Fetal Brain Female	brain
10	chr5:118621800-118625400	Flanking Active TSS	Dnd41	blood
11	chr5:118621800-118626600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr5:118621800-118627400	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr5:118622200-118628200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:118622400-118626600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:118622400-118626600	Flanking Active TSS	GM12878-XiMat	blood
16	chr5:118622400-118628000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:118622400-118628000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:118622600-118626200	Enhancers	NHDF-Ad	bronchial
19	chr5:118622600-118626600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr5:118622600-118627200	Enhancers	Stomach Mucosa	stomach
21	chr5:118622600-118627800	Enhancers	Fetal Lung	lung
22	chr5:118622800-118625400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:118622800-118626000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:118622800-118626000	Enhancers	Duodenum Mucosa	Duodenum
25	chr5:118622800-118626000	Weak transcription	Esophagus	oesophagus
26	chr5:118623200-118626200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:118623200-118626200	Enhancers	Fetal Stomach	stomach
28	chr5:118623400-118625600	Enhancers	HSMMtube	muscle
29	chr5:118623400-118626400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:118623400-118626400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr5:118623800-118625400	Enhancers	HMEC	breast
32	chr5:118623800-118626000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:118623800-118626000	Enhancers	K562	blood
34	chr5:118623800-118627000	Enhancers	Fetal Kidney	kidney
35	chr5:118623800-118627800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr5:118623800-118628000	Enhancers	Primary hematopoietic stem cells	blood
37	chr5:118623800-118628000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:118624000-118625800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr5:118624000-118626200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:118624000-118626200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr5:118624000-118626400	Enhancers	Adipose Nuclei	Adipose
42	chr5:118624000-118627800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:118624000-118628200	Enhancers	Primary B cells from peripheral blood	blood
44	chr5:118624200-118626000	Flanking Active TSS	NHEK	skin
45	chr5:118624400-118626000	Weak transcription	Aorta	Aorta
46	chr5:118624400-118626400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:118624400-118626800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:118624400-118627800	Weak transcription	Small Intestine	intestine
49	chr5:118624600-118625400	Flanking Active TSS	Hela-S3	cervix
50	chr5:118624600-118625600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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