Variant report

Variant	rs354308
Chromosome Location	chr5:14245943-14245944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14244370..14246300-chr5:14246790..14248332,2	MCF-7	breast:
2	chr5:14245711..14247721-chr5:14250284..14252270,2	K562	blood:
3	chr5:14235633..14238119-chr5:14245399..14248312,2	MCF-7	breast:
4	chr5:14239498..14242139-chr5:14245502..14247917,2	MCF-7	breast:
5	chr5:14245041..14247685-chr5:14248600..14251255,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs13175673	1.00[ASN][1000 genomes]
rs164861	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17302408	1.00[ASN][1000 genomes]
rs187125	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434605	1.00[ASN][1000 genomes]
rs245577	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2591277	0.97[EUR][1000 genomes]
rs2607077	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607078	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2697663	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30616	1.00[ASN][1000 genomes]
rs30617	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30619	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30620	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354285	0.83[AMR][1000 genomes]
rs354287	0.82[AFR][1000 genomes]
rs354288	0.81[AMR][1000 genomes]
rs354305	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39856	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42485	1.00[ASN][1000 genomes]
rs706271	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773701	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773702	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773763	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs799025	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897724	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897726	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	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
2	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
3	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
4	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
5	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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14221800-14249600	Weak transcription	Colonic Mucosa	Colon
2	chr5:14226400-14249400	Weak transcription	Esophagus	oesophagus
3	chr5:14226600-14246800	Weak transcription	Fetal Intestine Small	intestine
4	chr5:14234600-14250200	Weak transcription	Placenta	Placenta
5	chr5:14237800-14246600	Weak transcription	Pancreas	Pancrea
6	chr5:14238000-14250000	Weak transcription	HepG2	liver
7	chr5:14238000-14252400	Weak transcription	NHEK	skin
8	chr5:14238400-14246800	Weak transcription	Hela-S3	cervix
9	chr5:14238400-14249400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:14238400-14249600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:14238600-14247000	Weak transcription	HMEC	breast
12	chr5:14238600-14250200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:14240000-14247000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:14240000-14249000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:14240200-14248600	Weak transcription	Aorta	Aorta
16	chr5:14240400-14246200	Weak transcription	Primary B cells from cord blood	blood
17	chr5:14240800-14246400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:14240800-14247000	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:14240800-14248800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:14240800-14249600	Weak transcription	Fetal Lung	lung
21	chr5:14241200-14249600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:14241600-14249000	Weak transcription	NHDF-Ad	bronchial
23	chr5:14241800-14246200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:14242000-14247400	Enhancers	Fetal Muscle Leg	muscle
25	chr5:14242000-14247400	Enhancers	Psoas Muscle	Psoas
26	chr5:14242200-14247400	Enhancers	Left Ventricle	heart
27	chr5:14242600-14247400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:14242600-14247400	Enhancers	Fetal Muscle Trunk	muscle
29	chr5:14242600-14250200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:14242800-14247200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:14242800-14247200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:14242800-14247200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:14242800-14247400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr5:14242800-14247400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:14242800-14247400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr5:14243000-14246000	Enhancers	A549	lung
37	chr5:14243000-14246800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:14243000-14247200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:14243200-14247200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr5:14243400-14247400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr5:14243600-14246200	Enhancers	NH-A	brain
42	chr5:14243600-14246400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr5:14243600-14250000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:14243800-14247400	Enhancers	Fetal Thymus	thymus
45	chr5:14244000-14246000	Enhancers	Fetal Brain Male	brain
46	chr5:14244000-14246200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:14244000-14246200	Enhancers	Thymus	Thymus
48	chr5:14244000-14247400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr5:14244200-14246800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:14244200-14246800	Weak transcription	Ovary	ovary

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