Variant report

Variant	rs72671349
Chromosome Location	chr14:39503527-39503528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39486181..39486938-chr14:39503284..39504551,4	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs17108815	0.81[EUR][1000 genomes]
rs45469295	0.80[EUR][1000 genomes]
rs45469795	0.89[EUR][1000 genomes]
rs45540035	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55790340	0.89[EUR][1000 genomes]
rs55880223	0.80[EUR][1000 genomes]
rs55981737	0.80[EUR][1000 genomes]
rs55987939	0.80[EUR][1000 genomes]
rs55997577	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56032918	0.80[EUR][1000 genomes]
rs56063785	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56074634	0.89[EUR][1000 genomes]
rs56087094	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56103446	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56125789	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136756	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225465	0.82[EUR][1000 genomes]
rs56237815	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56276842	0.80[EUR][1000 genomes]
rs56282196	0.80[EUR][1000 genomes]
rs56328886	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333870	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334607	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56335002	0.89[EUR][1000 genomes]
rs56341545	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56404404	0.80[EUR][1000 genomes]
rs59418195	0.85[EUR][1000 genomes]
rs67808375	0.89[EUR][1000 genomes]
rs7147914	0.80[EUR][1000 genomes]
rs7150638	0.81[EUR][1000 genomes]
rs72669383	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72669388	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669397	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669399	0.80[EUR][1000 genomes]
rs72669400	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671304	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72671307	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671309	0.87[EUR][1000 genomes]
rs72671311	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671316	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671332	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671333	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671353	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671360	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671362	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671367	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671372	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671379	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671382	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671387	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671398	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671400	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673307	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673314	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673315	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673316	0.89[EUR][1000 genomes]
rs72673317	0.89[EUR][1000 genomes]
rs72673318	0.87[EUR][1000 genomes]
rs72673328	0.85[EUR][1000 genomes]
rs72673329	0.85[EUR][1000 genomes]
rs72673339	0.85[EUR][1000 genomes]
rs72673346	0.80[EUR][1000 genomes]
rs72673350	0.80[EUR][1000 genomes]
rs8009457	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39487200-39508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:39493400-39505800	Weak transcription	Psoas Muscle	Psoas
3	chr14:39495400-39505000	Weak transcription	Small Intestine	intestine
4	chr14:39495400-39505800	Weak transcription	Fetal Kidney	kidney
5	chr14:39495400-39518200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:39495600-39509800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:39495800-39516000	Weak transcription	Stomach Mucosa	stomach
8	chr14:39496000-39514800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:39496000-39520400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:39496600-39507800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:39497400-39506000	Weak transcription	Fetal Heart	heart
12	chr14:39497400-39518000	Strong transcription	HSMM	muscle
13	chr14:39497400-39519200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:39497600-39507600	Weak transcription	Brain Germinal Matrix	brain
15	chr14:39497800-39505800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:39497800-39520400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:39497800-39521200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:39498000-39505800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr14:39498000-39510000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:39498000-39518400	Strong transcription	Osteobl	bone
21	chr14:39498000-39518600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:39498000-39524200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:39498200-39507600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:39498200-39509400	Weak transcription	Fetal Brain Male	brain
25	chr14:39498200-39510200	Strong transcription	Placenta	Placenta
26	chr14:39498200-39519400	Strong transcription	NH-A	brain
27	chr14:39498200-39524200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:39498200-39524400	Strong transcription	Fetal Intestine Large	intestine
29	chr14:39498400-39520000	Strong transcription	HepG2	liver
30	chr14:39498400-39524800	Weak transcription	K562	blood
31	chr14:39498600-39510000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr14:39498600-39518000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:39498600-39519600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:39498600-39524000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:39498600-39524800	Strong transcription	Adipose Nuclei	Adipose
36	chr14:39499000-39503600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr14:39499000-39504200	Strong transcription	GM12878-XiMat	blood
38	chr14:39499000-39507800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr14:39499000-39510200	Strong transcription	NHDF-Ad	bronchial
40	chr14:39499000-39510400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:39499000-39510400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr14:39499000-39510400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr14:39499000-39523200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:39499000-39523600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr14:39499000-39524200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr14:39499000-39524800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:39499000-39524800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:39499000-39525000	Strong transcription	Liver	Liver
49	chr14:39499600-39503800	Strong transcription	Primary B cells from cord blood	blood
50	chr14:39499600-39524600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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