Variant report

Variant	rs165094
Chromosome Location	chr5:14266629-14266630
allele	C/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: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	chr5:14152626..14154635-chr5:14265361..14268345,3	MCF-7	breast:
2	chr5:14238485..14241035-chr5:14265096..14266696,2	MCF-7	breast:
3	chr5:14266100..14268810-chr5:14315325..14317635,2	K562	blood:
4	chr5:14217255..14219345-chr5:14264896..14267843,2	MCF-7	breast:
5	chr5:14110016..14111938-chr5:14264952..14267387,2	MCF-7	breast:
6	chr5:14142083..14147002-chr5:14262644..14273159,29	MCF-7	breast:
7	chr5:14142928..14148372-chr5:14263664..14268038,8	MCF-7	breast:
8	chr5:14264363..14267106-chr5:14269370..14271398,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10042362	0.81[ASN][1000 genomes]
rs12522960	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs154150	0.82[CHB][hapmap]
rs164859	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs164860	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs164862	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs164863	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs165092	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs165095	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	0.96[ASN][1000 genomes]
rs16903338	0.86[CHD][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2440982	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs247141	0.80[JPT][hapmap]
rs26281	0.83[MEX][hapmap]
rs30605	0.81[ASN][1000 genomes]
rs30618	0.82[CHB][hapmap]
rs30621	0.95[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs30626	0.86[ASN][1000 genomes]
rs30627	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs30628	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs30629	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs30630	0.87[ASN][1000 genomes]
rs30631	0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs30632	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs30633	0.82[CHB][hapmap]
rs32571	0.83[MEX][hapmap]
rs354303	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs356026	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs356027	0.87[ASN][1000 genomes]
rs356028	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs356029	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs42253	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4701604	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56334634	0.92[ASN][1000 genomes]
rs58221971	0.89[ASN][1000 genomes]
rs6554849	0.89[ASN][1000 genomes]
rs6554850	0.92[ASN][1000 genomes]
rs6554851	0.92[ASN][1000 genomes]
rs67084079	0.80[ASN][1000 genomes]
rs72744279	0.80[ASN][1000 genomes]
rs7380307	0.82[CHB][hapmap]
rs7700787	0.82[CHB][hapmap];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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14259000-14268400	Weak transcription	Esophagus	oesophagus
2	chr5:14259200-14267400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:14259200-14268400	Weak transcription	Spleen	Spleen
4	chr5:14259200-14268600	Weak transcription	Gastric	stomach
5	chr5:14261600-14268200	Weak transcription	Small Intestine	intestine
6	chr5:14261800-14268600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:14262200-14270800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:14262400-14268400	Weak transcription	Right Ventricle	heart
9	chr5:14262600-14267400	Weak transcription	Lung	lung
10	chr5:14262600-14268600	Weak transcription	Pancreas	Pancrea
11	chr5:14265200-14267200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:14265200-14268200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:14265200-14268400	Weak transcription	Colonic Mucosa	Colon
14	chr5:14265200-14268400	Weak transcription	Fetal Intestine Large	intestine
15	chr5:14265200-14268600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:14265200-14268800	Enhancers	HSMMtube	muscle
17	chr5:14265200-14271400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:14265200-14293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:14265400-14266800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:14265400-14266800	Enhancers	Hela-S3	cervix
21	chr5:14265400-14266800	Enhancers	K562	blood
22	chr5:14265400-14267000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr5:14265400-14267000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:14265400-14267000	Weak transcription	Aorta	Aorta
25	chr5:14265400-14267000	Weak transcription	Fetal Thymus	thymus
26	chr5:14265400-14267200	Enhancers	Brain Germinal Matrix	brain
27	chr5:14265400-14267400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:14265400-14267600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:14265400-14267600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr5:14265400-14267800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:14265400-14267800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr5:14265400-14268000	Weak transcription	Brain Angular Gyrus	brain
33	chr5:14265400-14268000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:14265400-14268200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:14265400-14268200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:14265400-14268200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:14265400-14268200	Weak transcription	Brain Substantia Nigra	brain
38	chr5:14265400-14268200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:14265400-14268200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:14265400-14268200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr5:14265400-14268200	Enhancers	NHDF-Ad	bronchial
42	chr5:14265400-14268200	Enhancers	Osteobl	bone
43	chr5:14265400-14268400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:14265400-14268400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:14265400-14268400	Weak transcription	Adipose Nuclei	Adipose
46	chr5:14265400-14268400	Enhancers	Fetal Heart	heart
47	chr5:14265400-14268400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr5:14265400-14268400	Weak transcription	Fetal Stomach	stomach
49	chr5:14265400-14268400	Enhancers	HMEC	breast
50	chr5:14265400-14268600	Weak transcription	Rectal Mucosa Donor 31	rectum

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