Variant report

Variant	rs2330354
Chromosome Location	chr21:47677365-47677366
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47676348..47678546-chr21:47704213..47706057,2	K562	blood:
2	chr21:47672405..47674929-chr21:47676682..47680003,3	MCF-7	breast:
3	chr21:47670941..47674537-chr21:47676599..47680173,5	K562	blood:
4	chr21:47675606..47678213-chr21:47678769..47680314,2	K562	blood:
5	chr21:47665373..47666953-chr21:47675647..47678386,2	K562	blood:
6	chr21:47674756..47677469-chr21:47692219..47695037,2	MCF-7	breast:
7	chr21:47673957..47677589-chr21:47684900..47687101,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239415	Chromatin interaction
ENSG00000228137	Chromatin interaction
ENSG00000160294	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
2	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
3	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
4	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
5	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
6	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
7	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
8	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
9	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
10	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
11	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
12	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
13	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
14	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
15	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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	83 gene(s)	inside rSNPs	n/a
16	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
17	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
18	nsv933354	chr21:47609029-47851401	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
19	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
20	nsv914134	chr21:47632995-47712185	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a
21	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
22	nsv587975	chr21:47661235-47830843	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
23	nsv432159	chr21:47673247-47854392	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
24	nsv587976	chr21:47676711-47687144	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47649800-47701600	Weak transcription	Right Atrium	heart
2	chr21:47650000-47705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:47650800-47701000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:47650800-47701400	Strong transcription	Fetal Muscle Leg	muscle
5	chr21:47650800-47701600	Strong transcription	Fetal Stomach	stomach
6	chr21:47651000-47703200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:47651200-47701400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:47651600-47679000	Strong transcription	HSMM	muscle
9	chr21:47651600-47703000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr21:47651600-47703200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr21:47651800-47681000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:47651800-47701400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr21:47651800-47702600	Strong transcription	Osteobl	bone
14	chr21:47652000-47701000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr21:47652000-47703000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr21:47652200-47701600	Strong transcription	Fetal Thymus	thymus
17	chr21:47652400-47685200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:47652400-47702000	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr21:47652800-47678000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:47652800-47702200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr21:47653000-47701600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr21:47653200-47696000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:47653200-47702000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:47653400-47686000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr21:47653600-47701800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr21:47653600-47702400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr21:47658200-47681400	Strong transcription	Brain Hippocampus Middle	brain
28	chr21:47658200-47702200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr21:47658400-47702800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr21:47658600-47681400	Strong transcription	NHEK	skin
31	chr21:47658600-47682400	Strong transcription	Fetal Brain Female	brain
32	chr21:47658600-47696000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr21:47658600-47696000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr21:47658600-47701400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr21:47658600-47702600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr21:47658600-47703000	Strong transcription	Placenta	Placenta
37	chr21:47658600-47703200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr21:47658600-47703600	Strong transcription	Fetal Intestine Large	intestine
39	chr21:47658800-47679000	Strong transcription	HUVEC	blood vessel
40	chr21:47658800-47679200	Strong transcription	NHLF	lung
41	chr21:47658800-47681600	Strong transcription	Colonic Mucosa	Colon
42	chr21:47658800-47681600	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr21:47658800-47682400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr21:47658800-47695800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr21:47658800-47696000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr21:47658800-47699800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr21:47658800-47700600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr21:47661800-47682400	Strong transcription	Colon Smooth Muscle	Colon
49	chr21:47662200-47681400	Strong transcription	Aorta	Aorta
50	chr21:47662600-47681400	Strong transcription	Esophagus	oesophagus

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