Variant report

Variant	rs16903321
Chromosome Location	chr5:14237570-14237571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14235633..14238119-chr5:14245399..14248312,2	MCF-7	breast:
2	chr5:14216973..14219606-chr5:14236627..14239606,2	MCF-7	breast:
3	chr5:14149488..14151474-chr5:14236779..14238294,2	MCF-7	breast:
4	chr5:14228783..14230881-chr5:14236364..14239220,3	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16903243	0.83[MKK][hapmap]
rs16903250	0.83[MKK][hapmap]
rs16903254	0.83[MKK][hapmap]
rs16903265	0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16903269	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903270	0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903322	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903350	0.87[AFR][1000 genomes]
rs16903376	0.80[AFR][1000 genomes]
rs16903399	1.00[MEX][hapmap];0.85[YRI][hapmap]
rs16903467	1.00[MEX][hapmap]
rs16903475	1.00[MEX][hapmap]
rs56140232	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59499572	0.87[AFR][1000 genomes]
rs59619763	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61011080	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61509800	0.87[AFR][1000 genomes]
rs61665335	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73748679	0.87[AFR][1000 genomes]
rs73748685	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73748687	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73748688	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73748696	0.82[AFR][1000 genomes]
rs73751311	0.91[AFR][1000 genomes]
rs73751318	0.87[AFR][1000 genomes]
rs73751327	0.87[AFR][1000 genomes]
rs7703674	0.87[AFR][1000 genomes]
rs7705426	0.87[AFR][1000 genomes]
rs7713114	0.80[AFR][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	nsv4724	chr5:14225543-14243167	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14221800-14249600	Weak transcription	Colonic Mucosa	Colon
2	chr5:14223800-14237600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:14224000-14239600	Weak transcription	Primary B cells from cord blood	blood
4	chr5:14225000-14237600	Genic enhancers	HSMM	muscle
5	chr5:14226200-14237800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:14226400-14249400	Weak transcription	Esophagus	oesophagus
7	chr5:14226600-14246800	Weak transcription	Fetal Intestine Small	intestine
8	chr5:14227600-14239000	Weak transcription	Gastric	stomach
9	chr5:14229000-14237600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:14230000-14237600	Weak transcription	Brain Germinal Matrix	brain
11	chr5:14230600-14237600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:14230800-14238400	Weak transcription	Fetal Brain Female	brain
13	chr5:14231400-14239800	Weak transcription	Small Intestine	intestine
14	chr5:14231600-14237800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:14231800-14238600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:14232000-14238000	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:14232200-14240600	Weak transcription	Fetal Intestine Large	intestine
18	chr5:14233200-14237600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:14234200-14240000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:14234400-14237600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:14234600-14237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:14234600-14242600	Weak transcription	Lung	lung
23	chr5:14234600-14250200	Weak transcription	Placenta	Placenta
24	chr5:14235600-14240000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:14236200-14239200	Enhancers	HUVEC	blood vessel
26	chr5:14236400-14240800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:14236400-14240800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:14236400-14240800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:14236400-14241000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:14236600-14239000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:14236600-14240200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:14236600-14241000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:14236800-14238600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:14236800-14239400	Enhancers	HSMMtube	muscle
35	chr5:14236800-14240200	Enhancers	Fetal Muscle Leg	muscle
36	chr5:14236800-14241000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:14236800-14241200	Enhancers	Fetal Brain Male	brain
38	chr5:14237000-14237800	Enhancers	Aorta	Aorta
39	chr5:14237000-14237800	Enhancers	Fetal Lung	lung
40	chr5:14237000-14238000	Enhancers	Psoas Muscle	Psoas
41	chr5:14237000-14238000	Enhancers	HepG2	liver
42	chr5:14237000-14238200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:14237000-14238600	Enhancers	Fetal Heart	heart
44	chr5:14237000-14238800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:14237000-14238800	Enhancers	Left Ventricle	heart
46	chr5:14237000-14238800	Enhancers	Right Atrium	heart
47	chr5:14237000-14239800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr5:14237000-14241000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr5:14237200-14237600	Weak transcription	Pancreas	Pancrea
50	chr5:14237200-14237600	Weak transcription	GM12878-XiMat	blood

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