Variant report

Variant	rs55997577
Chromosome Location	chr14:39555961-39555962
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39544544..39547535-chr14:39553591..39556378,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10483540	0.80[EUR][1000 genomes]
rs17108815	0.90[EUR][1000 genomes]
rs45469295	0.89[EUR][1000 genomes]
rs45469795	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45540035	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55790340	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs55880223	0.89[EUR][1000 genomes]
rs55918207	0.87[EUR][1000 genomes]
rs55981737	0.89[EUR][1000 genomes]
rs55987939	0.89[EUR][1000 genomes]
rs56032918	0.89[EUR][1000 genomes]
rs56063785	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56074634	0.98[EUR][1000 genomes]
rs56087094	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56103446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56125789	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136756	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225465	0.91[EUR][1000 genomes]
rs56225696	0.85[EUR][1000 genomes]
rs56237815	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56276842	0.89[EUR][1000 genomes]
rs56282196	0.89[EUR][1000 genomes]
rs56328886	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333870	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334607	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56335002	0.98[EUR][1000 genomes]
rs56341545	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56404404	0.89[EUR][1000 genomes]
rs57248532	0.85[EUR][1000 genomes]
rs59418195	0.93[EUR][1000 genomes]
rs6571907	0.80[EUR][1000 genomes]
rs67808375	0.98[EUR][1000 genomes]
rs67970726	0.81[EUR][1000 genomes]
rs7147914	0.89[EUR][1000 genomes]
rs7148908	0.86[EUR][1000 genomes]
rs7150638	0.90[EUR][1000 genomes]
rs7161065	0.84[EUR][1000 genomes]
rs72669383	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669388	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669397	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669399	0.89[EUR][1000 genomes]
rs72669400	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671304	0.89[EUR][1000 genomes]
rs72671307	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671309	0.87[EUR][1000 genomes]
rs72671311	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671316	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671332	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671333	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671344	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671349	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671353	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671360	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671362	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671367	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671372	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671379	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671382	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671387	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671398	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671400	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673307	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673314	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673315	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673316	0.98[EUR][1000 genomes]
rs72673317	0.98[EUR][1000 genomes]
rs72673318	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72673328	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72673329	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72673339	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72673340	0.86[EUR][1000 genomes]
rs72673346	0.89[EUR][1000 genomes]
rs72673350	0.89[EUR][1000 genomes]
rs72673357	0.87[EUR][1000 genomes]
rs72673359	0.85[EUR][1000 genomes]
rs8009457	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39525600-39565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:39526000-39557200	Strong transcription	Osteobl	bone
3	chr14:39526400-39563200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:39526800-39566600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:39527000-39565400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:39528000-39565400	Strong transcription	Placenta	Placenta
7	chr14:39528000-39565600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr14:39528600-39566400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:39529200-39559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:39529200-39566600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:39529600-39564200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:39529800-39566400	Weak transcription	Fetal Heart	heart
13	chr14:39531200-39569200	Weak transcription	Stomach Mucosa	stomach
14	chr14:39532000-39565400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:39534200-39566600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr14:39534600-39566800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:39538200-39565200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:39538200-39565200	Strong transcription	HUVEC	blood vessel
19	chr14:39538600-39566400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:39538800-39556600	Strong transcription	Adipose Nuclei	Adipose
21	chr14:39538800-39561000	Strong transcription	Fetal Muscle Leg	muscle
22	chr14:39539000-39566600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr14:39539200-39565400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr14:39540400-39559800	Strong transcription	HepG2	liver
25	chr14:39540800-39559600	Strong transcription	Liver	Liver
26	chr14:39543200-39556600	Strong transcription	HSMM	muscle
27	chr14:39545400-39562800	Strong transcription	GM12878-XiMat	blood
28	chr14:39546600-39556200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:39546600-39557600	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:39546600-39565400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr14:39546800-39556800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:39546800-39556800	Strong transcription	Primary T cells from cord blood	blood
33	chr14:39546800-39557000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:39547200-39557600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:39549000-39560000	Strong transcription	Fetal Intestine Large	intestine
36	chr14:39549200-39556800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:39549200-39565400	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr14:39549200-39565600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:39549200-39565600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:39549400-39556200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:39549400-39562800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:39549400-39565400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr14:39549400-39565400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr14:39549600-39556200	Strong transcription	HSMMtube	muscle
45	chr14:39549600-39556400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:39550200-39556000	Strong transcription	Fetal Thymus	thymus
47	chr14:39550200-39556800	Strong transcription	NH-A	brain
48	chr14:39550600-39565400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:39550800-39565400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr14:39551000-39556400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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