Variant report

Variant	rs73057511
Chromosome Location	chr5:14191213-14191214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14190934..14193452-chr5:14204987..14206665,2	K562	blood:
2	chr5:14143338..14144978-chr5:14188286..14191627,3	MCF-7	breast:
3	chr5:14186990..14191289-chr5:14196188..14199111,4	MCF-7	breast:
4	chr5:14190314..14192078-chr5:14242022..14244161,2	MCF-7	breast:
5	chr5:14190950..14193183-chr5:14195167..14198577,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11958958	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903280	0.87[AMR][1000 genomes]
rs16903317	1.00[AMR][1000 genomes]
rs16903319	1.00[AMR][1000 genomes]
rs16903330	0.87[AMR][1000 genomes]
rs59032427	0.87[AMR][1000 genomes]
rs60615600	0.87[AMR][1000 genomes]
rs61737132	0.87[AMR][1000 genomes]
rs62344640	0.99[AFR][1000 genomes]
rs6891552	0.87[AMR][1000 genomes]
rs73055570	1.00[AMR][1000 genomes]
rs73055575	1.00[AMR][1000 genomes]
rs73055577	1.00[AMR][1000 genomes]
rs73055578	1.00[AMR][1000 genomes]
rs73055592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057508	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057521	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057526	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057539	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057554	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057562	1.00[AMR][1000 genomes]
rs73057593	0.87[AMR][1000 genomes]
rs73057602	0.87[AMR][1000 genomes]
rs73059545	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats 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	4 gene(s)	inside rSNPs	diseases
7	esv1792551	chr5:14180257-14202590	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14175000-14191600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:14177400-14191800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:14181400-14191800	Enhancers	Fetal Heart	heart
4	chr5:14183600-14193000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:14184000-14191400	Weak transcription	Fetal Intestine Large	intestine
6	chr5:14184400-14197200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr5:14184600-14202600	Weak transcription	Fetal Intestine Small	intestine
8	chr5:14185600-14194200	Enhancers	NHDF-Ad	bronchial
9	chr5:14186000-14199800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:14186000-14200000	Weak transcription	Esophagus	oesophagus
11	chr5:14186600-14196600	Weak transcription	Brain Substantia Nigra	brain
12	chr5:14187200-14192200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:14187200-14193800	Weak transcription	Spleen	Spleen
14	chr5:14187200-14195400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:14187600-14193800	Weak transcription	Primary B cells from cord blood	blood
16	chr5:14188000-14199800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:14188400-14191400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:14188400-14191400	Enhancers	Fetal Brain Female	brain
19	chr5:14188800-14204000	Weak transcription	Fetal Kidney	kidney
20	chr5:14189000-14193800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:14189000-14197000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:14189000-14203600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:14189200-14197000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:14189400-14191400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr5:14189400-14192000	Enhancers	Colon Smooth Muscle	Colon
26	chr5:14189600-14191400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:14189600-14192000	Enhancers	Adipose Nuclei	Adipose
28	chr5:14189800-14191400	Enhancers	Gastric	stomach
29	chr5:14189800-14191400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr5:14189800-14191400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr5:14189800-14191600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:14189800-14191600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr5:14189800-14191600	Enhancers	Fetal Muscle Leg	muscle
34	chr5:14189800-14191600	Enhancers	Left Ventricle	heart
35	chr5:14189800-14191600	Enhancers	Ovary	ovary
36	chr5:14189800-14191600	Flanking Active TSS	Hela-S3	cervix
37	chr5:14189800-14193000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:14189800-14193400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:14190000-14191400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr5:14190000-14191600	Enhancers	Pancreas	Pancrea
41	chr5:14190200-14191600	Enhancers	GM12878-XiMat	blood
42	chr5:14190200-14192000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:14190200-14192200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr5:14190200-14192400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr5:14190400-14191400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr5:14190400-14192200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:14190400-14192200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:14190400-14195400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:14190600-14192000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:14190600-14194800	Enhancers	Rectal Smooth Muscle	rectum

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