Variant report

Variant	rs115694724
Chromosome Location	chr21:44596747-44596748
allele	G/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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44595103..44597994-chr21:45059971..45061669,2	MCF-7	breast:
2	chr21:44595418..44598407-chr21:45007465..45009708,2	MCF-7	breast:
3	chr21:44595798..44598770-chr21:45063265..45067849,4	MCF-7	breast:
4	chr21:44596583..44597347-chr21:44905726..44906251,2	MCF-7	breast:
5	chr21:44596001..44597609-chr21:45065167..45067189,15	MCF-7	breast:
6	chr21:44595907..44598227-chr21:44599190..44600855,2	MCF-7	breast:
7	chr21:44596450..44597355-chr21:44683459..44684057,2	MCF-7	breast:
8	chr21:44595975..44600241-chr21:44843202..44849395,11	MCF-7	breast:
9	chr21:44596467..44597366-chr21:45066269..45067210,6	K562	blood:
10	chr21:44594966..44597591-chr21:44845721..44847643,2	K562	blood:
11	chr21:44595827..44599164-chr21:44845631..44847666,4	MCF-7	breast:
12	chr21:44595581..44597977-chr21:44722947..44725523,2	K562	blood:
13	chr21:44558793..44559748-chr21:44595983..44597245,4	MCF-7	breast:
14	chr21:44596302..44600320-chr21:44763162..44765941,4	MCF-7	breast:
15	chr21:44595496..44597017-chr21:44829022..44831353,2	MCF-7	breast:
16	chr21:44596413..44596968-chr21:44866121..44867152,3	K562	blood:
17	chr21:44596549..44597371-chr21:45065165..45066013,2	K562	blood:
18	chr21:44596497..44597381-chr21:44847015..44847854,5	K562	blood:
19	chr21:44596396..44597313-chr21:45065147..45065707,2	MCF-7	breast:
20	chr21:44596361..44597517-chr21:45066264..45067091,4	MCF-7	breast:
21	chr21:44596524..44597433-chr21:45039423..45039934,2	K562	blood:
22	chr21:44596483..44597010-chr21:44689136..44690000,2	K562	blood:
23	chr21:44596353..44597867-chr21:44760877..44763023,2	MCF-7	breast:
24	chr21:44596708..44597705-chr21:44847238..44847861,3	MCF-7	breast:
25	chr21:44595506..44597559-chr21:44837131..44839693,2	MCF-7	breast:
26	chr21:44582210..44584160-chr21:44594583..44597207,2	MCF-7	breast:
27	chr21:44595703..44598660-chr21:45028207..45031192,2	MCF-7	breast:
28	chr21:44558924..44559647-chr21:44596413..44597304,3	MCF-7	breast:
29	chr21:44588285..44592993-chr21:44594253..44598657,5	MCF-7	breast:
30	chr21:44594665..44597116-chr21:44751236..44753866,2	MCF-7	breast:
31	chr21:44596666..44597314-chr21:44816535..44817335,2	MCF-7	breast:
32	chr21:44596408..44597544-chr21:44922093..44923863,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237864	Chromatin interaction
ENSG00000160202	Chromatin interaction
ENSG00000228120	Chromatin interaction
ENSG00000142178	Chromatin interaction
ENSG00000188660	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913812	chr21:44213057-44686358	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv1827985	chr21:44447198-44596778	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv913828	chr21:44471692-44598827	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
6	nsv1060276	chr21:44550394-44628579	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
8	nsv913832	chr21:44579105-44768562	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv587664	chr21:44585405-44598827	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
10	esv3440728	chr21:44595883-44600181	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44586200-44597000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:44592400-44596800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr21:44593600-44597000	Weak transcription	Psoas Muscle	Psoas
4	chr21:44593800-44596800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:44593800-44596800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:44593800-44596800	Enhancers	Fetal Thymus	thymus
7	chr21:44593800-44597000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr21:44593800-44597000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr21:44593800-44597000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr21:44593800-44597000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:44593800-44599000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:44593800-44599800	Enhancers	Placenta	Placenta
13	chr21:44593800-44601600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:44594000-44596800	Weak transcription	Primary T cells from cord blood	blood
15	chr21:44594000-44596800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr21:44594000-44597000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr21:44594000-44597000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:44594000-44597000	Weak transcription	Lung	lung
19	chr21:44594000-44597000	Weak transcription	Right Ventricle	heart
20	chr21:44594000-44597000	Weak transcription	NHDF-Ad	bronchial
21	chr21:44594000-44597400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr21:44594000-44598200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:44594200-44597000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:44594400-44597000	Weak transcription	Gastric	stomach
25	chr21:44594800-44596800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr21:44595000-44596800	Enhancers	Fetal Intestine Small	intestine
27	chr21:44595200-44597000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr21:44595600-44596800	Enhancers	A549	lung
29	chr21:44595600-44597000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr21:44595600-44597000	Enhancers	Fetal Intestine Large	intestine
31	chr21:44595600-44602400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr21:44595800-44596800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr21:44596000-44597800	Enhancers	Fetal Brain Male	brain
34	chr21:44596200-44596800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr21:44596200-44596800	Enhancers	Fetal Muscle Trunk	muscle
36	chr21:44596400-44596800	Enhancers	Primary B cells from peripheral blood	blood
37	chr21:44596400-44596800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr21:44596400-44596800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr21:44596400-44596800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr21:44596400-44596800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:44596400-44596800	Enhancers	Brain Cingulate Gyrus	brain
42	chr21:44596400-44596800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr21:44596400-44596800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr21:44596400-44596800	Enhancers	Thymus	Thymus
45	chr21:44596400-44597000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr21:44596400-44597000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr21:44596400-44597800	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr21:44596400-44598200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr21:44596400-44598200	Flanking Active TSS	Hela-S3	cervix
50	chr21:44596400-44598200	Enhancers	HSMMtube	muscle

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