Variant report

Variant	rs183946737
Chromosome Location	chr21:46292514-46292515
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46231216..46239677-chr21:46289090..46295542,14	K562	blood:
2	chr21:46232702..46239829-chr21:46289967..46296620,21	MCF-7	breast:
3	chr21:46288744..46296879-chr21:46346201..46354260,26	MCF-7	breast:
4	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:
5	chr19:39335285..39337048-chr21:46290079..46292955,2	MCF-7	breast:
6	chr21:46291916..46297365-chr21:46358001..46363812,14	MCF-7	breast:
7	chr21:46220413..46223818-chr21:46291771..46295209,8	K562	blood:
8	chr21:46292072..46295985-chr21:46328607..46334685,5	MCF-7	breast:
9	chr21:46280336..46283440-chr21:46291266..46293624,3	K562	blood:
10	chr21:46220930..46225769-chr21:46292170..46294469,5	K562	blood:
11	chr21:46265359..46266619-chr21:46291943..46292855,4	MCF-7	breast:
12	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
13	chr21:46219802..46220657-chr21:46291980..46292897,2	MCF-7	breast:
14	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
15	chr15:65588153..65588988-chr21:46292057..46292933,2	Hela-S3	cervix:
16	chr21:46235517..46239255-chr21:46289829..46295572,6	K562	blood:
17	chr21:46292148..46294278-chr21:46308549..46311972,5	MCF-7	breast:
18	chr21:46292272..46294074-chr21:46492667..46495373,2	MCF-7	breast:
19	chr21:46226554..46228509-chr21:46290759..46292691,2	K562	blood:
20	chr21:46218558..46223428-chr21:46289542..46296056,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184787	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000269688	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000160255	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS 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	33 gene(s)	inside rSNPs	diseases
5	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv913968	chr21:46249752-46301008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription 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	32 gene(s)	inside rSNPs	diseases
11	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv544479	chr21:46280467-46323401	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS 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	19 gene(s)	inside rSNPs	diseases
13	nsv470907	chr21:46283669-46306161	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv459299	chr21:46283669-46311264	Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS 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	19 gene(s)	inside rSNPs	diseases
15	nsv459300	chr21:46283669-46311264	Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv587814	chr21:46283669-46311264	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	esv3409023	chr21:46292349-46295097	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46289600-46292600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr21:46289600-46292600	Flanking Active TSS	Osteobl	bone
3	chr21:46289800-46292600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:46289800-46296000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr21:46290400-46292600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:46290600-46292600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr21:46290600-46292600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr21:46290600-46292600	Enhancers	Spleen	Spleen
9	chr21:46290600-46292800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:46290600-46292800	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr21:46290600-46292800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr21:46290600-46292800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr21:46290600-46292800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr21:46290600-46292800	Flanking Active TSS	NH-A	brain
15	chr21:46290600-46293000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr21:46290600-46293000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr21:46290600-46293000	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr21:46290600-46293000	Flanking Active TSS	HMEC	breast
19	chr21:46290600-46293000	Flanking Active TSS	K562	blood
20	chr21:46290600-46293200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr21:46290600-46293200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:46290800-46292600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr21:46290800-46292600	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr21:46290800-46292800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr21:46290800-46292800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr21:46290800-46292800	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr21:46290800-46292800	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr21:46290800-46292800	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr21:46290800-46292800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr21:46290800-46293000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr21:46291000-46292800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr21:46291200-46292600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr21:46291200-46292600	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr21:46291200-46292800	Flanking Active TSS	Right Ventricle	heart
35	chr21:46291200-46293000	Bivalent/Poised TSS	HepG2	liver
36	chr21:46291200-46295200	Active TSS	Aorta	Aorta
37	chr21:46291400-46292600	Flanking Active TSS	Fetal Brain Female	brain
38	chr21:46291400-46292600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
39	chr21:46291400-46293000	Flanking Active TSS	Placenta	Placenta
40	chr21:46291600-46292600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr21:46291600-46292600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr21:46291600-46292600	Flanking Active TSS	GM12878-XiMat	blood
43	chr21:46291600-46292600	Flanking Active TSS	NHEK	skin
44	chr21:46291600-46292800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr21:46291600-46292800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr21:46291600-46292800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr21:46291600-46292800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr21:46291600-46292800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr21:46291600-46292800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr21:46291600-46292800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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