Variant report

Variant	rs10873241
Chromosome Location	chr14:71231503-71231504
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	chr14:71221857..71224156-chr14:71229104..71232104,3	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1034769	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10873242	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12589737	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476609	0.99[ASN][1000 genomes]
rs1476610	0.81[AFR][1000 genomes]
rs2107666	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2332455	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2332458	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814872	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141095	0.81[AFR][1000 genomes]
rs4899368	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899369	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902844	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4902852	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573978	0.81[AFR][1000 genomes]
rs6573980	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140653	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7152516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8007131	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011507	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8018294	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71206800-71231600	Weak transcription	Brain Anterior Caudate	brain
2	chr14:71209400-71238200	Weak transcription	Fetal Stomach	stomach
3	chr14:71209400-71238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:71209400-71238400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:71212000-71238200	Weak transcription	Fetal Intestine Small	intestine
6	chr14:71215800-71232200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr14:71216400-71238200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:71216600-71245800	Weak transcription	Brain Germinal Matrix	brain
9	chr14:71216800-71238400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:71220600-71238600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:71220800-71240400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:71220800-71266400	Weak transcription	Fetal Intestine Large	intestine
13	chr14:71221000-71237600	Weak transcription	Fetal Kidney	kidney
14	chr14:71221800-71239600	Weak transcription	Liver	Liver
15	chr14:71222200-71238000	Weak transcription	Esophagus	oesophagus
16	chr14:71222200-71238200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:71222200-71238200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:71222200-71258200	Weak transcription	HepG2	liver
19	chr14:71222400-71238200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:71222600-71274600	Weak transcription	Hela-S3	cervix
21	chr14:71222800-71238200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:71223000-71258400	Weak transcription	Primary T cells from cord blood	blood
23	chr14:71223000-71266600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:71223400-71240000	Weak transcription	Pancreas	Pancrea
25	chr14:71223600-71232200	Weak transcription	Primary B cells from cord blood	blood
26	chr14:71224000-71258000	Weak transcription	Dnd41	blood
27	chr14:71227600-71238000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:71227800-71235200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:71227800-71238000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:71227800-71238400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:71227800-71245200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr14:71227800-71245600	Weak transcription	Lung	lung
33	chr14:71227800-71257800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr14:71228000-71235000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:71228000-71235200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr14:71228000-71236400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:71228000-71237800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:71228000-71238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:71228000-71238200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:71228000-71238400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr14:71228000-71238400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:71228000-71242000	Weak transcription	GM12878-XiMat	blood
43	chr14:71228000-71245600	Weak transcription	Gastric	stomach
44	chr14:71228000-71258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr14:71228000-71258000	Weak transcription	A549	lung
46	chr14:71228200-71251400	Weak transcription	Fetal Brain Female	brain
47	chr14:71228200-71258000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr14:71230200-71234000	Weak transcription	NHEK	skin
49	chr14:71230200-71235400	Weak transcription	HMEC	breast
50	chr14:71230400-71232000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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