Variant report

Variant	rs73346970
Chromosome Location	chr20:25018988-25018989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25017798..25020869-chr20:25030431..25033464,3	MCF-7	breast:
2	chr20:25018135..25021325-chr20:25025439..25028774,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2150647	1.00[AMR][1000 genomes]
rs2150648	1.00[AMR][1000 genomes]
rs4392331	1.00[AMR][1000 genomes]
rs61529650	1.00[AMR][1000 genomes]
rs73346980	1.00[AMR][1000 genomes]
rs73348704	1.00[AMR][1000 genomes]
rs73348706	1.00[AMR][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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25011600-25020200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:25012000-25026400	Enhancers	Right Ventricle	heart
3	chr20:25012800-25026400	Enhancers	Brain Angular Gyrus	brain
4	chr20:25013400-25022600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr20:25013800-25020200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:25014000-25026400	Enhancers	Brain Cingulate Gyrus	brain
7	chr20:25014200-25023000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr20:25014200-25026400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr20:25014400-25019800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr20:25014400-25025600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:25015800-25019600	Enhancers	Primary B cells from peripheral blood	blood
12	chr20:25016000-25019600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr20:25016000-25020000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr20:25016000-25020200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr20:25016000-25021200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr20:25016200-25019400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr20:25016200-25020800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr20:25016200-25021800	Enhancers	Colonic Mucosa	Colon
19	chr20:25016200-25023800	Enhancers	Stomach Mucosa	stomach
20	chr20:25016200-25024200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr20:25016200-25024600	Enhancers	Fetal Thymus	thymus
22	chr20:25016400-25019000	Enhancers	Duodenum Mucosa	Duodenum
23	chr20:25016400-25019400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr20:25016400-25019400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr20:25016400-25019400	Enhancers	Brain Germinal Matrix	brain
26	chr20:25016400-25019600	Enhancers	Colon Smooth Muscle	Colon
27	chr20:25016400-25019600	Enhancers	Thymus	Thymus
28	chr20:25016400-25019800	Genic enhancers	Dnd41	blood
29	chr20:25016400-25020000	Enhancers	Rectal Smooth Muscle	rectum
30	chr20:25016400-25020400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr20:25016400-25020400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr20:25016400-25020800	Enhancers	Adipose Nuclei	Adipose
33	chr20:25016400-25020800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr20:25016400-25021000	Genic enhancers	Fetal Intestine Large	intestine
35	chr20:25016400-25024000	Enhancers	Small Intestine	intestine
36	chr20:25016400-25024400	Genic enhancers	Fetal Intestine Small	intestine
37	chr20:25016400-25025800	Enhancers	Fetal Heart	heart
38	chr20:25016600-25019000	Enhancers	Stomach Smooth Muscle	stomach
39	chr20:25016600-25021400	Enhancers	Fetal Lung	lung
40	chr20:25016600-25021600	Enhancers	Ovary	ovary
41	chr20:25016600-25022200	Genic enhancers	Fetal Stomach	stomach
42	chr20:25016600-25023800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr20:25016600-25024600	Enhancers	Pancreas	Pancrea
44	chr20:25016600-25025400	Enhancers	Fetal Muscle Leg	muscle
45	chr20:25016600-25027600	Enhancers	Right Atrium	heart
46	chr20:25016600-25034800	Weak transcription	A549	lung
47	chr20:25016800-25020000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr20:25016800-25021200	Enhancers	Spleen	Spleen
49	chr20:25017000-25020800	Enhancers	Fetal Brain Male	brain
50	chr20:25017000-25022000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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