Variant report

Variant	rs73348722
Chromosome Location	chr20:25030972-25030973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:24973485..24975030-chr20:25030138..25032517,2	MCF-7	breast:
2	chr20:25022614..25025327-chr20:25028235..25031123,4	MCF-7	breast:
3	chr20:25017798..25020869-chr20:25030431..25033464,3	MCF-7	breast:
4	chr20:25030752..25032686-chr20:25040138..25042817,2	MCF-7	breast:
5	chr20:25027984..25032783-chr20:25034265..25037344,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101474	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11907817	1.00[AFR][1000 genomes]
rs11908357	1.00[AFR][1000 genomes]
rs7265897	1.00[AFR][1000 genomes]
rs7265967	1.00[AFR][1000 genomes]
rs7266133	0.98[AFR][1000 genomes]
rs7270177	1.00[AFR][1000 genomes]
rs73348706	0.97[AFR][1000 genomes]
rs73348715	1.00[AFR][1000 genomes]
rs73348717	1.00[AFR][1000 genomes]
rs8114568	1.00[AFR][1000 genomes]
rs8121327	1.00[AFR][1000 genomes]
rs8123923	1.00[AFR][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	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription 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	49 gene(s)	inside rSNPs	diseases
5	nsv912826	chr20:24987787-25071454	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25016600-25034800	Weak transcription	A549	lung
2	chr20:25017800-25034200	Weak transcription	Fetal Kidney	kidney
3	chr20:25020600-25037400	Enhancers	Psoas Muscle	Psoas
4	chr20:25021200-25032600	Weak transcription	NHDF-Ad	bronchial
5	chr20:25022200-25033000	Weak transcription	Brain Germinal Matrix	brain
6	chr20:25024000-25032400	Weak transcription	Small Intestine	intestine
7	chr20:25024200-25031200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:25024400-25032400	Strong transcription	Fetal Intestine Small	intestine
9	chr20:25024400-25032600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr20:25024400-25032600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr20:25024400-25033000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr20:25024600-25031800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr20:25024600-25033200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr20:25026400-25032600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr20:25026400-25033000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr20:25026400-25034600	Enhancers	Fetal Heart	heart
17	chr20:25026800-25032200	Strong transcription	Thymus	Thymus
18	chr20:25027400-25032400	Genic enhancers	Fetal Muscle Leg	muscle
19	chr20:25027800-25037000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr20:25028400-25032200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr20:25028400-25034800	Enhancers	Left Ventricle	heart
22	chr20:25028600-25031000	Weak transcription	GM12878-XiMat	blood
23	chr20:25028600-25031400	Enhancers	Fetal Lung	lung
24	chr20:25028600-25031800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr20:25028600-25033600	Enhancers	Right Atrium	heart
26	chr20:25028600-25037200	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr20:25028800-25031200	Weak transcription	Colonic Mucosa	Colon
28	chr20:25028800-25031200	Genic enhancers	Fetal Stomach	stomach
29	chr20:25028800-25031600	Enhancers	Lung	lung
30	chr20:25028800-25031800	Enhancers	Colon Smooth Muscle	Colon
31	chr20:25028800-25031800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr20:25028800-25032000	Weak transcription	Adipose Nuclei	Adipose
33	chr20:25028800-25032600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr20:25028800-25036600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr20:25028800-25037200	Enhancers	Aorta	Aorta
36	chr20:25029000-25031200	Enhancers	Placenta	Placenta
37	chr20:25029000-25031200	Enhancers	Rectal Smooth Muscle	rectum
38	chr20:25029000-25031600	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr20:25029000-25031800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr20:25029000-25031800	Enhancers	Ovary	ovary
41	chr20:25029000-25032200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr20:25029000-25034200	Enhancers	Brain Substantia Nigra	brain
43	chr20:25029000-25034600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr20:25029000-25036800	Enhancers	Right Ventricle	heart
45	chr20:25029200-25031000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr20:25029200-25031000	Weak transcription	Primary B cells from cord blood	blood
47	chr20:25029200-25031600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr20:25029200-25032400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr20:25029200-25033000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr20:25029200-25033000	Weak transcription	Fetal Thymus	thymus

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