Variant report

Variant	rs73749596
Chromosome Location	chr5:14725734-14725735
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	chr5:14717556..14719233-chr5:14725303..14727840,2	K562	blood:
2	chr5:14720199..14722691-chr5:14724582..14726482,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10475017	0.85[AMR][1000 genomes]
rs11952550	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11953822	0.83[AMR][1000 genomes]
rs11956097	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16903651	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55714227	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55957515	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56044433	0.83[AMR][1000 genomes]
rs56155042	0.83[AMR][1000 genomes]
rs56297478	0.83[AMR][1000 genomes]
rs56350972	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73749521	0.83[AMR][1000 genomes]
rs73749524	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73749525	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73749526	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73749585	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73749586	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73749593	0.83[AMR][1000 genomes]
rs73749595	0.83[AFR][1000 genomes]
rs73752126	0.83[AMR][1000 genomes]
rs73752131	0.83[AMR][1000 genomes]
rs73752132	0.83[AMR][1000 genomes]
rs73752133	0.83[AMR][1000 genomes]
rs73752135	0.83[AMR][1000 genomes]
rs73752138	0.83[AMR][1000 genomes]
rs73752139	0.83[AMR][1000 genomes]
rs73752140	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14684600-14726200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14696600-14727600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:14711800-14726200	Weak transcription	HSMMtube	muscle
4	chr5:14712400-14726400	Weak transcription	HMEC	breast
5	chr5:14713200-14726400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:14713400-14727400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:14713600-14726000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:14713800-14727400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:14714000-14726200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:14714200-14740800	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:14714400-14727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:14715000-14744200	Weak transcription	GM12878-XiMat	blood
13	chr5:14715200-14726200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:14715200-14726200	Weak transcription	HSMM	muscle
15	chr5:14715200-14727600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:14715200-14728400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:14715200-14728600	Weak transcription	Esophagus	oesophagus
18	chr5:14715200-14736200	Weak transcription	Pancreas	Pancrea
19	chr5:14715200-14737400	Weak transcription	Spleen	Spleen
20	chr5:14716000-14726000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:14716000-14726000	Weak transcription	Fetal Heart	heart
22	chr5:14716000-14727800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:14716000-14730600	Weak transcription	Fetal Thymus	thymus
24	chr5:14716000-14737000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:14716200-14727400	Weak transcription	Fetal Brain Male	brain
26	chr5:14716400-14726200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:14717000-14727600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:14717000-14727600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:14717200-14727600	Weak transcription	Brain Germinal Matrix	brain
30	chr5:14717200-14728800	Weak transcription	Lung	lung
31	chr5:14717200-14730600	Weak transcription	Ovary	ovary
32	chr5:14717400-14727400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:14718000-14728200	Weak transcription	Colonic Mucosa	Colon
34	chr5:14718200-14733000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:14718400-14726200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:14718400-14726200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:14718400-14726200	Weak transcription	Right Ventricle	heart
38	chr5:14720800-14726400	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:14721200-14726400	Weak transcription	NH-A	brain
40	chr5:14721200-14730000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:14721400-14726000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:14721400-14726400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:14721400-14726400	Weak transcription	NHLF	lung
44	chr5:14721400-14727200	Weak transcription	Fetal Brain Female	brain
45	chr5:14721400-14727600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:14721400-14727600	Weak transcription	Hela-S3	cervix
47	chr5:14721400-14739000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:14721400-14741400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr5:14721600-14726200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:14721600-14726400	Weak transcription	Placenta	Placenta

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