Variant report

Variant	rs35430523
Chromosome Location	chr21:44819518-44819519
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44818343..44820016-chr21:44828957..44830875,2	MCF-7	breast:
2	chr21:44818494..44821466-chr21:44822978..44824850,3	MCF-7	breast:
3	chr21:44818100..44821352-chr21:44920857..44923649,3	MCF-7	breast:
4	chr21:44762861..44766108-chr21:44815534..44819790,6	MCF-7	breast:
5	chr21:44818567..44821286-chr21:44833722..44837322,3	MCF-7	breast:
6	chr21:44818474..44821317-chr21:44840540..44842574,2	K562	blood:
7	chr21:44814631..44820586-chr21:44845176..44849099,6	K562	blood:
8	chr21:44818715..44822400-chr21:44825874..44830059,6	MCF-7	breast:
9	chr21:44817777..44820163-chr21:44837731..44840134,2	MCF-7	breast:
10	chr21:44816513..44819832-chr21:44823325..44826638,3	MCF-7	breast:
11	chr21:44817435..44819767-chr21:44897212..44899468,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction
ENSG00000185186	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57145743	0.83[AMR][1000 genomes]
rs58470253	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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

No data

Chromatin state (count:74 , 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	chr21:44816800-44819600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr21:44816800-44823000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:44817000-44822400	Enhancers	Adipose Nuclei	Adipose
12	chr21:44817000-44823200	Enhancers	Primary hematopoietic stem cells	blood
13	chr21:44817200-44819600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:44817200-44820400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:44817200-44820400	Weak transcription	NH-A	brain
16	chr21:44817200-44820800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr21:44817400-44820800	Weak transcription	HSMM	muscle
18	chr21:44817400-44820800	Weak transcription	HSMMtube	muscle
19	chr21:44817400-44821400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr21:44817400-44821400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr21:44817400-44821800	Enhancers	Duodenum Mucosa	Duodenum
22	chr21:44817600-44820200	Weak transcription	Ovary	ovary
23	chr21:44817600-44821000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr21:44817600-44821600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr21:44817600-44823600	Enhancers	HepG2	liver
26	chr21:44817600-44829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr21:44817800-44819800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr21:44817800-44820400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr21:44817800-44820800	Weak transcription	Fetal Intestine Small	intestine
30	chr21:44817800-44823200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr21:44818000-44823200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr21:44818000-44823600	Weak transcription	Fetal Intestine Large	intestine
33	chr21:44818200-44819600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr21:44818200-44820000	Weak transcription	Liver	Liver
35	chr21:44818200-44822200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr21:44818400-44819600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr21:44818400-44819600	Weak transcription	Stomach Mucosa	stomach
38	chr21:44818400-44819800	Weak transcription	Fetal Lung	lung
39	chr21:44818400-44820400	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr21:44818400-44820600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr21:44818400-44821000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr21:44818600-44821400	Weak transcription	Fetal Kidney	kidney
43	chr21:44818800-44819600	Weak transcription	Pancreas	Pancrea
44	chr21:44818800-44820000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr21:44818800-44820400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr21:44818800-44820600	Weak transcription	A549	lung
47	chr21:44818800-44822400	Weak transcription	Esophagus	oesophagus
48	chr21:44819000-44820200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr21:44819000-44820200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:44819000-44820200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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