Variant report

Variant	rs373359114
Chromosome Location	chr21:45432451-45432452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45216557..45218790-chr21:45430964..45433314,2	K562	blood:
2	chr21:45282600..45286741-chr21:45429139..45433009,5	MCF-7	breast:
3	chr21:45432277..45433979-chr21:45497915..45499454,2	K562	blood:
4	chr21:45430220..45433985-chr21:45525454..45528690,3	MCF-7	breast:
5	chr21:45431683..45433635-chr21:45552005..45554023,2	K562	blood:
6	chr1:167905439..167906059-chr21:45431832..45432556,2	Hela-S3	cervix:
7	chr21:45207900..45209521-chr21:45431429..45433903,2	MCF-7	breast:
8	chr21:45400066..45403685-chr21:45432405..45434021,3	MCF-7	breast:
9	chr21:45430262..45433765-chr21:45524105..45528370,12	MCF-7	breast:
10	chr17:56736345..56737039-chr21:45432050..45432587,2	Hela-S3	cervix:
11	chr17:62971538..62972281-chr21:45431721..45432503,2	Hela-S3	cervix:
12	chr21:45138839..45140766-chr21:45430959..45433329,2	MCF-7	breast:
13	chr21:45367943..45370581-chr21:45429600..45432583,3	K562	blood:
14	chr20:49411572..49412122-chr21:45432313..45432833,2	MCF-7	breast:
15	chr21:45282965..45285916-chr21:45430237..45433854,8	MCF-7	breast:
16	chr21:45430507..45434109-chr21:45525660..45529122,6	K562	blood:
17	chr17:48943259..48944005-chr21:45431937..45432566,2	Hela-S3	cervix:
18	chr21:45207339..45211369-chr21:45429720..45433341,4	K562	blood:
19	chr20:60877447..60878118-chr21:45431566..45432541,2	Hela-S3	cervix:
20	chr21:37441962..37442618-chr21:45431913..45432480,2	Hela-S3	cervix:
21	chr21:45194435..45196529-chr21:45430535..45433342,2	MCF-7	breast:
22	chr21:45431322..45434131-chr21:45718820..45721746,2	K562	blood:
23	chr20:49406551..49408394-chr21:45432299..45433815,2	MCF-7	breast:
24	chr21:45378072..45381016-chr21:45430291..45432652,2	K562	blood:
25	chr21:45432401..45434388-chr21:45557544..45559528,2	K562	blood:
26	chr21:45390463..45393290-chr21:45430971..45433661,3	MCF-7	breast:
27	chr21:45431673..45432633-chr5:10353216..10354079,2	Hela-S3	cervix:
28	chr21:45229749..45232080-chr21:45430603..45432486,2	K562	blood:
29	chr21:45429712..45433999-chr21:45522896..45529122,10	K562	blood:
30	chr17:56708016..56709699-chr21:45432044..45433647,2	MCF-7	breast:
31	chr21:45432311..45434662-chr21:45470417..45472446,3	K562	blood:
32	chr21:45283737..45286588-chr21:45430466..45433524,3	K562	blood:
33	chr21:45366033..45367987-chr21:45430998..45433821,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214174	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000124243	Chromatin interaction
ENSG00000259802	Chromatin interaction
ENSG00000159228	Chromatin interaction
ENSG00000143158	Chromatin interaction
ENSG00000143164	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000130706	Chromatin interaction
ENSG00000145495	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000141959	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv3360464	chr21:45431274-45433672	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	esv3323312	chr21:45431349-45433897	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 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	chr21:45429800-45433800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr21:45431000-45433000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:45431000-45433200	Active TSS	Brain Anterior Caudate	brain
4	chr21:45431200-45432800	Active TSS	Fetal Muscle Trunk	muscle
5	chr21:45431200-45433000	Active TSS	Brain Germinal Matrix	brain
6	chr21:45431200-45433000	Active TSS	Fetal Lung	lung
7	chr21:45431200-45433000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr21:45431200-45433000	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr21:45431200-45433000	Active TSS	NHLF	lung
10	chr21:45431200-45433200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr21:45431200-45433200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr21:45431200-45433200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr21:45431200-45433200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr21:45431200-45433200	Active TSS	Fetal Kidney	kidney
15	chr21:45431200-45433200	Active TSS	NHEK	skin
16	chr21:45431200-45433400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr21:45431200-45433400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr21:45431200-45433400	Active TSS	Rectal Smooth Muscle	rectum
19	chr21:45431200-45433400	Active TSS	A549	lung
20	chr21:45431200-45433600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr21:45431200-45433600	Active TSS	Psoas Muscle	Psoas
22	chr21:45431200-45433800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr21:45431200-45433800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr21:45431200-45433800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr21:45431200-45434000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr21:45431200-45434200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr21:45431200-45434200	Active TSS	HSMMtube	muscle
28	chr21:45431400-45432800	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr21:45431400-45432800	Active TSS	Adipose Nuclei	Adipose
30	chr21:45431400-45432800	Active TSS	Colonic Mucosa	Colon
31	chr21:45431400-45432800	Active TSS	Fetal Brain Female	brain
32	chr21:45431400-45432800	Active TSS	Right Ventricle	heart
33	chr21:45431400-45433000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr21:45431400-45433000	Active TSS	Muscle Satellite Cultured Cells	--
35	chr21:45431400-45433000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr21:45431400-45433000	Active TSS	Liver	Liver
37	chr21:45431400-45433000	Active TSS	Duodenum Mucosa	Duodenum
38	chr21:45431400-45433000	Active TSS	Placenta	Placenta
39	chr21:45431400-45433000	Active TSS	Left Ventricle	heart
40	chr21:45431400-45433000	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr21:45431400-45433000	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr21:45431400-45433000	Active TSS	Dnd41	blood
43	chr21:45431400-45433000	Active TSS	HepG2	liver
44	chr21:45431400-45433000	Active TSS	NH-A	brain
45	chr21:45431400-45433200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr21:45431400-45433200	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr21:45431400-45433200	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr21:45431400-45433200	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr21:45431400-45433200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr21:45431400-45433200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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