Variant report

Variant	rs73057518
Chromosome Location	chr5:14195780-14195781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14190950..14193183-chr5:14195167..14198577,4	MCF-7	breast:
2	chr5:14193728..14196151-chr5:14263145..14265627,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs164522	0.90[AMR][1000 genomes]
rs164523	0.90[AMR][1000 genomes]
rs16903278	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903313	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057525	0.98[AFR][1000 genomes];1.00[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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14184400-14197200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:14184600-14202600	Weak transcription	Fetal Intestine Small	intestine
3	chr5:14186000-14199800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:14186000-14200000	Weak transcription	Esophagus	oesophagus
5	chr5:14186600-14196600	Weak transcription	Brain Substantia Nigra	brain
6	chr5:14188000-14199800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:14188800-14204000	Weak transcription	Fetal Kidney	kidney
8	chr5:14189000-14197000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:14189000-14203600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:14189200-14197000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:14190800-14196800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:14190800-14196800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:14190800-14197000	Weak transcription	Fetal Brain Male	brain
14	chr5:14190800-14199600	Weak transcription	Brain Anterior Caudate	brain
15	chr5:14190800-14199800	Weak transcription	HepG2	liver
16	chr5:14191000-14197000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:14191000-14197000	Weak transcription	Fetal Lung	lung
18	chr5:14191200-14197200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:14191200-14199600	Weak transcription	Brain Angular Gyrus	brain
20	chr5:14191200-14200200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:14191400-14195800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:14191400-14197000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:14191400-14197200	Weak transcription	Gastric	stomach
24	chr5:14191400-14197200	Weak transcription	Lung	lung
25	chr5:14191400-14202600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:14191600-14196200	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:14191600-14196600	Weak transcription	Aorta	Aorta
28	chr5:14191600-14196600	Weak transcription	Psoas Muscle	Psoas
29	chr5:14191600-14196600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:14191600-14196800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:14191600-14197200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:14191600-14199600	Weak transcription	GM12878-XiMat	blood
33	chr5:14191600-14199800	Weak transcription	Pancreas	Pancrea
34	chr5:14191600-14202200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr5:14191800-14201600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr5:14192000-14197200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr5:14192200-14208000	Weak transcription	Hela-S3	cervix
38	chr5:14192400-14199000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:14192600-14195800	Weak transcription	NHEK	skin
40	chr5:14192800-14197400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:14193400-14196200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:14193600-14195800	Enhancers	Fetal Heart	heart
43	chr5:14193800-14195800	Genic enhancers	A549	lung
44	chr5:14193800-14196200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:14193800-14200800	Genic enhancers	HSMM	muscle
46	chr5:14194000-14196000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:14194000-14196000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:14194200-14195800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:14194200-14195800	Weak transcription	HMEC	breast
50	chr5:14194200-14197000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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