Variant report

Variant	rs13188746
Chromosome Location	chr5:14375901-14375902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14364519..14367299-chr5:14374556..14376521,2	MCF-7	breast:
2	chr5:14370789..14372438-chr5:14374024..14376617,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11955578	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11957857	0.81[AMR][1000 genomes]
rs13172149	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13172877	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13189406	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs154151	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17304403	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs185355	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs187667	0.87[EUR][1000 genomes]
rs247137	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs256412	0.87[EUR][1000 genomes]
rs28343	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs30766	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs30767	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs30768	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs30772	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs30773	0.87[EUR][1000 genomes]
rs30785	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs30786	0.89[EUR][1000 genomes]
rs30787	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs30788	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs30789	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs30790	0.88[EUR][1000 genomes]
rs30791	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs30793	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs30799	0.88[EUR][1000 genomes]
rs30800	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs30801	0.87[EUR][1000 genomes]
rs35860741	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36077682	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs378369	0.87[EUR][1000 genomes]
rs382403	1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs40278	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs40572	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs42555	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs42556	0.87[EUR][1000 genomes]
rs434279	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4702029	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14351600-14399400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:14353600-14385200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:14353600-14398800	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr5:14354600-14402400	Strong transcription	Liver	Liver
5	chr5:14355000-14392400	Strong transcription	HSMMtube	muscle
6	chr5:14355000-14398800	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr5:14356800-14376000	Strong transcription	HepG2	liver
8	chr5:14357000-14376400	Strong transcription	NHLF	lung
9	chr5:14357000-14376600	Strong transcription	Duodenum Mucosa	Duodenum
10	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
11	chr5:14357800-14385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:14357800-14389800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:14358000-14377000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:14358000-14385800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:14358000-14389800	Strong transcription	Adipose Nuclei	Adipose
16	chr5:14358200-14391600	Strong transcription	Primary B cells from cord blood	blood
17	chr5:14358400-14385600	Strong transcription	Fetal Intestine Large	intestine
18	chr5:14358400-14392000	Strong transcription	Fetal Muscle Leg	muscle
19	chr5:14358600-14392600	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:14360000-14398400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr5:14363600-14386000	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:14363600-14396000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:14363800-14380000	Strong transcription	Placenta	Placenta
24	chr5:14363800-14380400	Strong transcription	Hela-S3	cervix
25	chr5:14363800-14383200	Strong transcription	Colonic Mucosa	Colon
26	chr5:14363800-14383800	Strong transcription	HUVEC	blood vessel
27	chr5:14363800-14385600	Strong transcription	A549	lung
28	chr5:14363800-14430600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr5:14363800-14430600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:14364600-14376400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:14365600-14379200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:14366000-14392400	Strong transcription	HSMM	muscle
33	chr5:14366600-14379200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr5:14366600-14380000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:14366600-14385600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:14366600-14391600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:14366800-14403200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:14367400-14399800	Strong transcription	Left Ventricle	heart
39	chr5:14369000-14381200	Weak transcription	Fetal Kidney	kidney
40	chr5:14369600-14377800	Weak transcription	Psoas Muscle	Psoas
41	chr5:14369800-14379200	Weak transcription	Brain Angular Gyrus	brain
42	chr5:14370200-14378000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:14370200-14378800	Weak transcription	Brain Substantia Nigra	brain
44	chr5:14370400-14377800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:14370600-14376200	Weak transcription	Primary T cells from cord blood	blood
46	chr5:14371000-14379600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr5:14371200-14377800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr5:14371200-14388000	Weak transcription	Small Intestine	intestine
49	chr5:14371400-14377800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:14371400-14378000	Weak transcription	Brain Hippocampus Middle	brain

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