Variant report

Variant	rs73338817
Chromosome Location	chr21:16434279-16434280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16395914..16397790-chr21:16432209..16434496,2	MCF-7	breast:
2	chr21:16245453..16248261-chr21:16433985..16435650,2	MCF-7	breast:
3	chr21:16371454..16373259-chr21:16432960..16434805,2	K562	blood:
4	chr21:16359064..16361925-chr21:16431797..16434375,2	K562	blood:
5	chr21:15754592..15757287-chr21:16432170..16434965,2	K562	blood:
6	chr21:16379403..16381413-chr21:16433127..16435083,2	MCF-7	breast:
7	chr21:16356082..16358745-chr21:16434038..16436986,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155304	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60153736	0.88[AFR][1000 genomes]
rs61017534	0.88[AFR][1000 genomes]
rs73338820	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv587050	chr21:16413682-16462268	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16420400-16434800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:16422800-16435200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:16423600-16435200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:16423800-16435200	Weak transcription	Fetal Brain Male	brain
5	chr21:16424400-16435400	Weak transcription	Gastric	stomach
6	chr21:16426600-16434600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr21:16427600-16435200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:16427800-16435000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr21:16428400-16435200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr21:16428800-16435200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr21:16429000-16434400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr21:16429000-16434800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr21:16429000-16439200	Active TSS	A549	lung
14	chr21:16429800-16435000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr21:16429800-16435000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr21:16429800-16435200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr21:16430000-16434400	Weak transcription	Colonic Mucosa	Colon
18	chr21:16430000-16435000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr21:16430000-16435200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr21:16430000-16435400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:16430000-16435400	Weak transcription	Pancreas	Pancrea
22	chr21:16430000-16436000	Weak transcription	Aorta	Aorta
23	chr21:16430000-16436000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr21:16430200-16435400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr21:16430400-16435400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr21:16430600-16435000	Weak transcription	Fetal Stomach	stomach
27	chr21:16431000-16434400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr21:16431400-16434400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr21:16431400-16435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:16431600-16434400	Enhancers	Primary B cells from cord blood	blood
31	chr21:16431600-16434600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr21:16431600-16434600	Weak transcription	Brain Anterior Caudate	brain
33	chr21:16431600-16434800	Enhancers	Primary T cells from cord blood	blood
34	chr21:16431600-16434800	Weak transcription	Brain Germinal Matrix	brain
35	chr21:16431600-16435200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr21:16431800-16434400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr21:16432000-16435200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr21:16432400-16434400	Enhancers	Fetal Intestine Small	intestine
39	chr21:16432400-16434800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr21:16432400-16435000	Enhancers	Colon Smooth Muscle	Colon
41	chr21:16432400-16435600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr21:16432600-16434400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr21:16432600-16434600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr21:16432600-16435000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr21:16432600-16436000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr21:16432800-16435200	Enhancers	Brain Angular Gyrus	brain
47	chr21:16432800-16435400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr21:16432800-16435400	Enhancers	Primary B cells from peripheral blood	blood
49	chr21:16432800-16435400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr21:16432800-16439000	Active TSS	GM12878-XiMat	blood

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