Variant report

Variant	rs165095
Chromosome Location	chr5:14265371-14265372
allele	G/T
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14152626..14154635-chr5:14265361..14268345,3	MCF-7	breast:
2	chr5:14010058..14012896-chr5:14263995..14266243,3	MCF-7	breast:
3	chr5:14238485..14241035-chr5:14265096..14266696,2	MCF-7	breast:
4	chr5:14250457..14253122-chr5:14263365..14265859,2	K562	blood:
5	chr5:14255845..14258384-chr5:14262309..14265414,3	MCF-7	breast:
6	chr5:14260701..14263279-chr5:14263395..14266329,3	K562	blood:
7	chr5:14264035..14266359-chr5:14267149..14269027,3	MCF-7	breast:
8	chr5:14217255..14219345-chr5:14264896..14267843,2	MCF-7	breast:
9	chr5:14110016..14111938-chr5:14264952..14267387,2	MCF-7	breast:
10	chr5:14142083..14147002-chr5:14262644..14273159,29	MCF-7	breast:
11	chr5:14151730..14153750-chr5:14264012..14266030,2	MCF-7	breast:
12	chr5:14142928..14148372-chr5:14263664..14268038,8	MCF-7	breast:
13	chr5:14264363..14267106-chr5:14269370..14271398,3	K562	blood:
14	chr5:14238501..14240091-chr5:14263372..14265550,2	K562	blood:
15	chr5:14193728..14196151-chr5:14263145..14265627,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10042362	0.84[ASN][1000 genomes]
rs11133784	0.86[JPT][hapmap]
rs12522960	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs151899	0.86[JPT][hapmap]
rs154150	0.85[JPT][hapmap]
rs164629	0.81[JPT][hapmap]
rs164859	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs164860	1.00[CEU][hapmap];0.95[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs164862	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs164863	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs165092	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs165094	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs165096	0.94[ASN][1000 genomes]
rs16903338	0.82[JPT][hapmap]
rs2440982	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs26281	0.82[JPT][hapmap];0.82[MEX][hapmap]
rs30603	0.82[ASN][1000 genomes]
rs30604	0.82[ASN][1000 genomes]
rs30618	0.90[JPT][hapmap]
rs30621	0.90[CHB][hapmap];0.81[CHD][hapmap];0.85[ASN][1000 genomes]
rs30626	0.89[ASN][1000 genomes]
rs30627	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs30628	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs30629	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs30630	0.90[ASN][1000 genomes]
rs30631	0.81[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs30632	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs32549	0.81[JPT][hapmap]
rs32571	0.82[MEX][hapmap]
rs354303	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs356026	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs356027	0.90[ASN][1000 genomes]
rs356028	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs356029	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs42253	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4701604	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs556928	0.86[JPT][hapmap]
rs56334634	0.90[ASN][1000 genomes]
rs58221971	0.93[ASN][1000 genomes]
rs6554849	0.93[ASN][1000 genomes]
rs6554850	0.90[ASN][1000 genomes]
rs6554851	0.90[ASN][1000 genomes]
rs7380307	0.90[JPT][hapmap]

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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14256400-14265400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:14259000-14268400	Weak transcription	Esophagus	oesophagus
3	chr5:14259200-14267400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:14259200-14268400	Weak transcription	Spleen	Spleen
5	chr5:14259200-14268600	Weak transcription	Gastric	stomach
6	chr5:14261600-14268200	Weak transcription	Small Intestine	intestine
7	chr5:14261800-14268600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:14262200-14266000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:14262200-14270800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:14262400-14268400	Weak transcription	Right Ventricle	heart
11	chr5:14262600-14267400	Weak transcription	Lung	lung
12	chr5:14262600-14268600	Weak transcription	Pancreas	Pancrea
13	chr5:14263000-14266200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:14263000-14266200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:14263000-14266200	Weak transcription	Left Ventricle	heart
16	chr5:14264400-14265400	Flanking Active TSS	GM12878-XiMat	blood
17	chr5:14264400-14265600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:14264400-14265600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:14264600-14265400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr5:14264600-14265400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:14264600-14265400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:14264600-14265400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr5:14264600-14265400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:14264600-14265400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:14264600-14265400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr5:14264600-14265400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr5:14264600-14265400	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr5:14264600-14265400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:14264600-14265400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:14264600-14265400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:14264600-14265400	Enhancers	Liver	Liver
32	chr5:14264600-14265400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr5:14264600-14265400	Active TSS	Fetal Kidney	kidney
34	chr5:14264600-14265400	Active TSS	Fetal Muscle Trunk	muscle
35	chr5:14264600-14265400	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr5:14264600-14265400	Active TSS	Fetal Stomach	stomach
37	chr5:14264600-14265400	Active TSS	Ovary	ovary
38	chr5:14264600-14265400	Active TSS	Right Atrium	heart
39	chr5:14264600-14265400	Flanking Active TSS	Hela-S3	cervix
40	chr5:14264600-14265400	Flanking Active TSS	K562	blood
41	chr5:14264600-14265600	Active TSS	Fetal Brain Female	brain
42	chr5:14264600-14265600	Active TSS	A549	lung
43	chr5:14264600-14265800	Flanking Active TSS	HUVEC	blood vessel
44	chr5:14264600-14266000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:14264800-14265400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr5:14264800-14265400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:14264800-14265400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:14264800-14265400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
49	chr5:14264800-14265400	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr5:14264800-14265400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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