Variant report

Variant	rs73288662
Chromosome Location	chr14:67951820-67951821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67950274..67952126-chr14:67954353..67957172,2	MCF-7	breast:
2	chr14:67946150..67948174-chr14:67950017..67952096,2	MCF-7	breast:
3	chr14:67903388..67905312-chr14:67950420..67951946,2	MCF-7	breast:
4	chr14:67950772..67953650-chr14:67961025..67964119,3	MCF-7	breast:
5	chr14:67945430..67947453-chr14:67950590..67952638,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28647590	1.00[EUR][1000 genomes]
rs60946296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73284818	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1048046	chr14:67932876-67958467	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv902067	chr14:67935206-67953848	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1035855	chr14:67935684-67964355	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67933000-67954400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
3	chr14:67935200-67952200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:67936000-67952000	Weak transcription	Brain Substantia Nigra	brain
5	chr14:67937400-67954800	Weak transcription	Gastric	stomach
6	chr14:67937400-67955000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:67937600-67952000	Strong transcription	Primary T cells from cord blood	blood
8	chr14:67937600-67955000	Weak transcription	Brain Anterior Caudate	brain
9	chr14:67938200-67953400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:67939400-67952400	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:67939800-67953800	Weak transcription	Primary B cells from cord blood	blood
12	chr14:67942000-67955000	Weak transcription	Esophagus	oesophagus
13	chr14:67945400-67955000	Weak transcription	Small Intestine	intestine
14	chr14:67945600-67954600	Weak transcription	Colonic Mucosa	Colon
15	chr14:67945600-67954800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:67947000-67954000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr14:67947000-67958200	Weak transcription	Pancreas	Pancrea
18	chr14:67947200-67953800	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr14:67947200-67954800	Strong transcription	Fetal Intestine Small	intestine
20	chr14:67947200-67955000	Weak transcription	Ovary	ovary
21	chr14:67947200-67958400	Weak transcription	Brain Germinal Matrix	brain
22	chr14:67947800-67952600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:67949200-67952200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:67949800-67952200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr14:67949800-67958200	Weak transcription	Fetal Brain Male	brain
26	chr14:67950200-67952200	Strong transcription	Thymus	Thymus
27	chr14:67950200-67952600	Genic enhancers	Duodenum Mucosa	Duodenum
28	chr14:67950400-67952000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr14:67950400-67953000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:67950400-67953800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr14:67950400-67953800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr14:67950400-67954000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr14:67950400-67954600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:67950600-67952400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:67950600-67953600	Weak transcription	Right Atrium	heart
36	chr14:67950600-67953800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:67950600-67953800	Strong transcription	Fetal Intestine Large	intestine
38	chr14:67950800-67952000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:67950800-67952200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:67950800-67952200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr14:67950800-67952200	Weak transcription	Placenta	Placenta
42	chr14:67950800-67952200	Weak transcription	Left Ventricle	heart
43	chr14:67950800-67952200	Weak transcription	Psoas Muscle	Psoas
44	chr14:67950800-67952200	Weak transcription	Right Ventricle	heart
45	chr14:67950800-67952400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:67950800-67952400	Weak transcription	Spleen	Spleen
47	chr14:67951000-67952000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:67951000-67952000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:67951000-67952200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr14:67951000-67952400	Weak transcription	Lung	lung

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