Variant report

Variant	rs73751321
Chromosome Location	chr5:14263418-14263419
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14250457..14253122-chr5:14263365..14265859,2	K562	blood:
2	chr5:14255845..14258384-chr5:14262309..14265414,3	MCF-7	breast:
3	chr5:14260701..14263279-chr5:14263395..14266329,3	K562	blood:
4	chr5:14262017..14264062-chr5:14267525..14269616,2	K562	blood:
5	chr5:14152278..14154256-chr5:14262116..14264900,2	MCF-7	breast:
6	chr5:14142083..14147002-chr5:14262644..14273159,29	MCF-7	breast:
7	chr5:14238501..14240091-chr5:14263372..14265550,2	K562	blood:
8	chr5:14193728..14196151-chr5:14263145..14265627,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10513170	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1967180	0.83[ASN][1000 genomes]
rs354280	0.96[EUR][1000 genomes]
rs557292	0.85[ASN][1000 genomes]
rs55920001	0.85[ASN][1000 genomes]
rs56164834	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57155535	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59787628	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59963672	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876763	0.80[ASN][1000 genomes]
rs6886439	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890768	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73751319	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs774154	0.85[ASN][1000 genomes]
rs809565	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14253800-14264400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:14256200-14264200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr5:14256400-14265400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:14256600-14264400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:14257000-14264600	Enhancers	NH-A	brain
6	chr5:14257200-14264800	Weak transcription	Stomach Mucosa	stomach
7	chr5:14257200-14265000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:14258400-14264600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:14258800-14264400	Weak transcription	Fetal Intestine Small	intestine
10	chr5:14258800-14265000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:14259000-14264600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:14259000-14264600	Weak transcription	Fetal Brain Male	brain
13	chr5:14259000-14268400	Weak transcription	Esophagus	oesophagus
14	chr5:14259200-14263800	Weak transcription	Primary B cells from cord blood	blood
15	chr5:14259200-14264400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr5:14259200-14264600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:14259200-14264600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr5:14259200-14264600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:14259200-14264600	Enhancers	Brain Germinal Matrix	brain
20	chr5:14259200-14264600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:14259200-14264600	Weak transcription	Psoas Muscle	Psoas
22	chr5:14259200-14264600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:14259200-14264600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:14259200-14265000	Weak transcription	Colonic Mucosa	Colon
25	chr5:14259200-14267400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:14259200-14268400	Weak transcription	Spleen	Spleen
27	chr5:14259200-14268600	Weak transcription	Gastric	stomach
28	chr5:14259400-14264400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:14259600-14263800	Enhancers	A549	lung
30	chr5:14259600-14264600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:14259600-14264800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:14259600-14265000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:14259800-14264800	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:14260000-14263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr5:14260000-14264000	Genic enhancers	HSMM	muscle
36	chr5:14260000-14264600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:14260400-14265000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:14260600-14264600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:14260800-14264600	Enhancers	Fetal Thymus	thymus
40	chr5:14261000-14263800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr5:14261000-14263800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:14261000-14264400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:14261000-14264600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr5:14261200-14263600	Enhancers	NHEK	skin
45	chr5:14261200-14264400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:14261400-14263800	Weak transcription	K562	blood
47	chr5:14261400-14264000	Enhancers	Fetal Brain Female	brain
48	chr5:14261400-14264600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr5:14261400-14264600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr5:14261600-14264000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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