Variant report

Variant	rs164858
Chromosome Location	chr5:14220474-14220475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14213925..14215636-chr5:14218273..14221061,2	MCF-7	breast:
2	chr5:14218014..14220716-chr5:14221301..14224995,3	MCF-7	breast:
3	chr5:14142853..14145531-chr5:14217598..14220636,3	MCF-7	breast:
4	chr5:14219689..14221561-chr5:14226743..14228313,2	K562	blood:
5	chr5:14220084..14222429-chr5:14232339..14235006,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs13184670	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151901	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151902	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17299506	1.00[ASN][1000 genomes]
rs187386	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245447	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245448	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245451	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs245470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245512	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26057	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26059	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26060	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26061	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27665	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27759	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28010	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32335	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32339	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32341	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32388	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32389	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32390	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32394	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32395	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354285	1.00[ASN][1000 genomes]
rs354287	0.83[ASN][1000 genomes]
rs354288	1.00[ASN][1000 genomes]
rs354298	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354299	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354300	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354301	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354302	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs354310	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354311	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354312	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594035	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs397098	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407517	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424275	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs445553	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533517	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56235530	0.91[AFR][1000 genomes];0.98[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	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
3	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
4	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
5	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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14213000-14223600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:14214800-14220800	Enhancers	HepG2	liver
3	chr5:14215000-14222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:14215200-14221000	Enhancers	NHDF-Ad	bronchial
5	chr5:14215200-14222800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr5:14215400-14221600	Enhancers	GM12878-XiMat	blood
7	chr5:14215600-14223400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr5:14216000-14220600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:14216000-14221600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:14216000-14221600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr5:14216000-14222000	Enhancers	Primary B cells from peripheral blood	blood
12	chr5:14216000-14223800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:14216000-14225800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:14216200-14220600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:14216200-14221000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:14216200-14221400	Enhancers	Small Intestine	intestine
17	chr5:14216200-14221600	Enhancers	Fetal Heart	heart
18	chr5:14216200-14221800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr5:14216200-14221800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:14216400-14221600	Enhancers	HSMMtube	muscle
21	chr5:14216400-14222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:14216600-14222000	Enhancers	Left Ventricle	heart
23	chr5:14216800-14221200	Enhancers	Fetal Muscle Leg	muscle
24	chr5:14216800-14221400	Enhancers	Duodenum Mucosa	Duodenum
25	chr5:14216800-14221800	Enhancers	Fetal Intestine Small	intestine
26	chr5:14216800-14222000	Enhancers	Adipose Nuclei	Adipose
27	chr5:14216800-14222000	Enhancers	Fetal Intestine Large	intestine
28	chr5:14216800-14227200	Weak transcription	Hela-S3	cervix
29	chr5:14217000-14221200	Enhancers	NH-A	brain
30	chr5:14217000-14221400	Enhancers	Liver	Liver
31	chr5:14217000-14221800	Enhancers	Primary B cells from cord blood	blood
32	chr5:14217000-14234600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:14217400-14221600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:14217400-14222000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:14217400-14223000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr5:14217600-14220600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:14217600-14221800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:14217800-14220600	Enhancers	Stomach Mucosa	stomach
39	chr5:14217800-14221600	Enhancers	NHLF	lung
40	chr5:14217800-14221800	Weak transcription	Fetal Brain Male	brain
41	chr5:14218000-14221800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:14218000-14222000	Enhancers	Right Atrium	heart
43	chr5:14218000-14222200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:14218400-14221400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:14218400-14222000	Enhancers	Psoas Muscle	Psoas
46	chr5:14218400-14230000	Weak transcription	NHEK	skin
47	chr5:14218600-14221000	Enhancers	HUVEC	blood vessel
48	chr5:14218600-14222200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr5:14218800-14221200	Enhancers	Fetal Kidney	kidney
50	chr5:14218800-14221200	Enhancers	Fetal Lung	lung

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