Variant report

Variant	rs2403175
Chromosome Location	chr14:103929057-103929058
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103923899..103929898-chr14:103931403..103935760,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075413	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10137098	1.00[EUR][1000 genomes]
rs10146340	1.00[AMR][1000 genomes]
rs10149270	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151139	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11621406	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11625988	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12887238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1951393	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2023397	0.92[ASN][1000 genomes]
rs2065014	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2065020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2145858	0.94[AFR][1000 genomes]
rs2180992	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2403181	0.92[AFR][1000 genomes]
rs2756130	0.90[AFR][1000 genomes]
rs2756131	0.90[AFR][1000 genomes]
rs2756133	0.86[ASN][1000 genomes]
rs2756137	0.90[AFR][1000 genomes]
rs2765048	0.92[ASN][1000 genomes]
rs2765050	0.88[AFR][1000 genomes]
rs2765053	0.90[AFR][1000 genomes]
rs34721082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4900576	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4906326	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4906328	0.96[AFR][1000 genomes]
rs56666624	0.84[ASN][1000 genomes]
rs62007720	0.85[AFR][1000 genomes]
rs6575987	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6575989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6575990	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6575993	0.96[AFR][1000 genomes]
rs7146717	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7149291	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7152150	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7153380	0.96[AFR][1000 genomes]
rs7156000	0.85[AFR][1000 genomes]
rs73359283	0.84[ASN][1000 genomes]
rs74088013	0.84[ASN][1000 genomes]
rs8003497	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014010	0.98[AFR][1000 genomes]
rs911556	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
4	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 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	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:103912200-103930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:103912200-103942200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:103912400-103931800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:103912600-103929600	Weak transcription	Brain Substantia Nigra	brain
7	chr14:103912600-103932000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:103914800-103929200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:103914800-103929600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr14:103918200-103929200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:103918600-103941400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:103920600-103929200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:103922400-103939200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:103922400-103955000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:103922800-103940800	Weak transcription	Fetal Heart	heart
16	chr14:103923000-103935800	Weak transcription	Psoas Muscle	Psoas
17	chr14:103923000-103941600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:103923000-103949400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:103923200-103930200	Weak transcription	K562	blood
20	chr14:103923200-103930800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:103923200-103938200	Strong transcription	NHEK	skin
22	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:103923600-103967000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:103923800-103938400	Strong transcription	Liver	Liver
25	chr14:103923800-103941400	Weak transcription	Small Intestine	intestine
26	chr14:103924000-103957400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:103924400-103929200	Weak transcription	HUVEC	blood vessel
28	chr14:103924400-103937200	Weak transcription	Stomach Mucosa	stomach
29	chr14:103925200-103930600	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr14:103925200-103930800	Strong transcription	Primary B cells from cord blood	blood
31	chr14:103925600-103958400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr14:103926000-103930800	Strong transcription	HSMM	muscle
33	chr14:103926200-103950400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:103926600-103938400	Strong transcription	HMEC	breast
35	chr14:103926800-103963400	Strong transcription	Fetal Intestine Large	intestine
36	chr14:103927200-103930800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:103927200-103938400	Strong transcription	Dnd41	blood
38	chr14:103927200-103942400	Weak transcription	Fetal Brain Male	brain
39	chr14:103927400-103930600	Strong transcription	Fetal Muscle Leg	muscle
40	chr14:103927400-103930800	Strong transcription	GM12878-XiMat	blood
41	chr14:103927400-103930800	Strong transcription	Hela-S3	cervix
42	chr14:103927400-103944200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:103927400-103944800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:103927600-103929400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:103927600-103930000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:103927600-103930800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr14:103927600-103938400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:103927600-103938400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:103927600-103944000	Strong transcription	Fetal Thymus	thymus
50	chr14:103927600-103946600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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