Variant report

Variant	rs56335002
Chromosome Location	chr14:39585279-39585280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39583285..39585580-chr14:39639274..39641168,2	K562	blood:
2	chr14:39583538..39585580-chr14:39639274..39642211,2	K562	blood:
3	chr14:39582622..39586619-chr14:39638047..39642701,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182400	Chromatin interaction

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

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

rs_ID	r²[population]
rs10483540	0.82[EUR][1000 genomes]
rs17108815	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45469295	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs45469795	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45540035	0.98[EUR][1000 genomes]
rs55790340	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55880223	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55918207	0.89[EUR][1000 genomes]
rs55981737	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55987939	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55997577	0.98[EUR][1000 genomes]
rs56032918	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56063785	0.89[EUR][1000 genomes]
rs56074634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56087094	0.89[EUR][1000 genomes]
rs56103446	0.98[EUR][1000 genomes]
rs56125789	0.98[EUR][1000 genomes]
rs56136756	0.89[EUR][1000 genomes]
rs56225465	0.93[EUR][1000 genomes]
rs56225696	0.87[EUR][1000 genomes]
rs56237815	0.89[EUR][1000 genomes]
rs56276842	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56282196	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56328886	0.89[EUR][1000 genomes]
rs56333870	0.95[EUR][1000 genomes]
rs56334607	0.89[EUR][1000 genomes]
rs56341545	0.89[EUR][1000 genomes]
rs56404404	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57248532	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59418195	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6571907	0.82[EUR][1000 genomes]
rs67808375	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67970726	0.83[EUR][1000 genomes]
rs7147914	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7148908	0.88[EUR][1000 genomes]
rs7150638	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161065	0.82[EUR][1000 genomes]
rs72669383	0.80[EUR][1000 genomes]
rs72669388	0.89[EUR][1000 genomes]
rs72669397	0.89[EUR][1000 genomes]
rs72669399	0.87[EUR][1000 genomes]
rs72669400	0.87[EUR][1000 genomes]
rs72671304	0.87[EUR][1000 genomes]
rs72671307	0.87[EUR][1000 genomes]
rs72671309	0.85[EUR][1000 genomes]
rs72671311	0.87[EUR][1000 genomes]
rs72671316	0.89[EUR][1000 genomes]
rs72671332	0.87[EUR][1000 genomes]
rs72671333	0.89[EUR][1000 genomes]
rs72671344	0.89[EUR][1000 genomes]
rs72671349	0.89[EUR][1000 genomes]
rs72671353	0.89[EUR][1000 genomes]
rs72671360	0.93[EUR][1000 genomes]
rs72671362	0.93[EUR][1000 genomes]
rs72671367	0.93[EUR][1000 genomes]
rs72671372	0.98[EUR][1000 genomes]
rs72671379	0.98[EUR][1000 genomes]
rs72671382	0.98[EUR][1000 genomes]
rs72671387	0.82[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72671398	0.98[EUR][1000 genomes]
rs72671400	0.98[EUR][1000 genomes]
rs72673307	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72673314	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72673315	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72673316	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673317	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673318	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673328	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673329	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673339	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673340	0.89[EUR][1000 genomes]
rs72673346	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72673350	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72673357	0.89[EUR][1000 genomes]
rs72673359	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8009457	0.89[EUR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39583800-39588000	Weak transcription	Gastric	stomach
2	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
3	chr14:39584000-39588000	Weak transcription	Lung	lung
4	chr14:39584000-39588200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:39584000-39590000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:39584000-39595000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:39584000-39615000	Weak transcription	Pancreas	Pancrea
8	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
9	chr14:39584200-39588000	Weak transcription	Ovary	ovary
10	chr14:39584200-39592000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:39584200-39610800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
13	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:39584400-39586000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:39584400-39586000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:39584400-39586600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:39584400-39587000	Weak transcription	NHDF-Ad	bronchial
18	chr14:39584400-39587200	Weak transcription	Placenta	Placenta
19	chr14:39584400-39587200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:39584400-39587400	Weak transcription	Brain Anterior Caudate	brain
21	chr14:39584400-39587400	Weak transcription	NH-A	brain
22	chr14:39584400-39587600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:39584400-39587600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr14:39584400-39588000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:39584400-39588200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:39584400-39588200	Weak transcription	HSMMtube	muscle
27	chr14:39584400-39591400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:39584400-39591800	Weak transcription	Right Ventricle	heart
29	chr14:39584400-39592000	Weak transcription	Brain Substantia Nigra	brain
30	chr14:39584400-39592000	Weak transcription	Fetal Kidney	kidney
31	chr14:39584400-39593400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:39584400-39617200	Weak transcription	Psoas Muscle	Psoas
33	chr14:39584400-39620800	Weak transcription	Colonic Mucosa	Colon
34	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
35	chr14:39584600-39585800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:39584600-39585800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:39584600-39585800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:39584600-39586000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:39584600-39586000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:39584600-39586000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:39584600-39586000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:39584600-39586000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:39584600-39586000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:39584600-39586000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:39584600-39586600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:39584600-39586600	Weak transcription	Adipose Nuclei	Adipose
47	chr14:39584600-39586600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr14:39584600-39586800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:39584600-39586800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:39584600-39586800	Weak transcription	Primary B cells from peripheral blood	blood

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