Variant report

Variant	rs115761441
Chromosome Location	chr21:44821057-44821058
allele	C/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44751981..44753821-chr21:44820405..44821935,2	MCF-7	breast:
2	chr21:44762784..44765751-chr21:44820003..44823083,3	MCF-7	breast:
3	chr21:44818494..44821466-chr21:44822978..44824850,3	MCF-7	breast:
4	chr21:44820781..44823244-chr21:44845092..44848273,4	K562	blood:
5	chr21:44818100..44821352-chr21:44920857..44923649,3	MCF-7	breast:
6	chr21:44818567..44821286-chr21:44833722..44837322,3	MCF-7	breast:
7	chr21:44815638..44818048-chr21:44819779..44823056,3	MCF-7	breast:
8	chr21:44818474..44821317-chr21:44840540..44842574,2	K562	blood:
9	chr21:44806720..44808933-chr21:44820146..44822747,2	K562	blood:
10	chr21:44818715..44822400-chr21:44825874..44830059,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv1817359	chr21:44699077-44821595	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	nsv1058308	chr21:44722915-44825108	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1063186	chr21:44729904-44828476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv544467	chr21:44729904-44828476	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
12	nsv913840	chr21:44750643-44823479	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
14	nsv913844	chr21:44779680-44875495	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
15	nsv913845	chr21:44781356-44874702	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
16	nsv470901	chr21:44781356-44884252	Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
17	nsv913846	chr21:44792003-44824854	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
19	nsv913848	chr21:44817248-44848070	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
20	nsv913849	chr21:44817248-44925334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
21	esv1795905	chr21:44820999-44837533	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
22	esv1819475	chr21:44820999-44837533	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
23	esv1851649	chr21:44820999-44837533	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
2	chr21:44808600-44823000	Weak transcription	Brain Germinal Matrix	brain
3	chr21:44814000-44822400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:44814400-44822000	Enhancers	Placenta	Placenta
5	chr21:44814800-44822200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr21:44816200-44821600	Weak transcription	Lung	lung
7	chr21:44816200-44822800	Enhancers	Spleen	Spleen
8	chr21:44816400-44823200	Enhancers	Fetal Muscle Leg	muscle
9	chr21:44816800-44823000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:44817000-44822400	Enhancers	Adipose Nuclei	Adipose
11	chr21:44817000-44823200	Enhancers	Primary hematopoietic stem cells	blood
12	chr21:44817400-44821400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:44817400-44821400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr21:44817400-44821800	Enhancers	Duodenum Mucosa	Duodenum
15	chr21:44817600-44821600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr21:44817600-44823600	Enhancers	HepG2	liver
17	chr21:44817600-44829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:44817800-44823200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr21:44818000-44823200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:44818000-44823600	Weak transcription	Fetal Intestine Large	intestine
21	chr21:44818200-44822200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr21:44818600-44821400	Weak transcription	Fetal Kidney	kidney
23	chr21:44818800-44822400	Weak transcription	Esophagus	oesophagus
24	chr21:44819000-44822400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:44819200-44822400	Enhancers	Dnd41	blood
26	chr21:44819200-44823200	Weak transcription	Gastric	stomach
27	chr21:44819400-44821200	Enhancers	Colonic Mucosa	Colon
28	chr21:44819400-44822400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr21:44819400-44824200	Enhancers	Primary B cells from cord blood	blood
30	chr21:44819600-44821800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr21:44819600-44822200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr21:44819800-44822000	Enhancers	Fetal Lung	lung
33	chr21:44819800-44822400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr21:44820000-44822000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr21:44820000-44822200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr21:44820000-44822200	Bivalent Enhancer	Fetal Stomach	stomach
37	chr21:44820000-44822400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr21:44820000-44822600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr21:44820000-44822800	Enhancers	Fetal Thymus	thymus
40	chr21:44820000-44823200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr21:44820000-44823600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr21:44820200-44821600	Enhancers	Ovary	ovary
43	chr21:44820200-44821800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr21:44820200-44821800	Enhancers	Hela-S3	cervix
45	chr21:44820200-44822400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr21:44820200-44822400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr21:44820200-44823000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr21:44820200-44824200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr21:44820400-44821200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr21:44820400-44821200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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