Variant report

Variant	rs2838309
Chromosome Location	chr21:44883693-44883694
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr21:44883374-44883769	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:44883152..44886989-chr21:44891173..44894639,3	K562	blood:
2	chr21:44855643..44857176-chr21:44881790..44884286,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223975	TF binding region
ENSG00000185186	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11909545	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17004566	1.00[CEU][hapmap]
rs2838312	1.00[CEU][hapmap]
rs7278754	1.00[CEU][hapmap]
rs7280767	1.00[CEU][hapmap]
rs9981138	1.00[CEU][hapmap]
rs9983666	1.00[EUR][1000 genomes]

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	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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv913852	chr21:44829087-44925334	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv913859	chr21:44831981-44884252	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
12	nsv913860	chr21:44831981-44925334	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS 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	95 gene(s)	inside rSNPs	diseases
13	nsv913867	chr21:44835508-44925334	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
14	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS 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	98 gene(s)	inside rSNPs	diseases
15	nsv913872	chr21:44860542-44925334	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
16	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
17	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44877000-44884200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr21:44877600-44883800	Weak transcription	Right Atrium	heart
3	chr21:44877600-44886000	Weak transcription	Brain Anterior Caudate	brain
4	chr21:44878800-44886400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr21:44879000-44889200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:44879400-44889400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:44880200-44884600	Enhancers	Fetal Lung	lung
8	chr21:44880200-44885000	Enhancers	Lung	lung
9	chr21:44880200-44885600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr21:44880400-44884800	Enhancers	Fetal Stomach	stomach
11	chr21:44880600-44884600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr21:44880600-44890800	Enhancers	HepG2	liver
13	chr21:44881000-44885600	Enhancers	Pancreas	Pancrea
14	chr21:44881600-44884600	Enhancers	A549	lung
15	chr21:44881800-44884000	Enhancers	Fetal Muscle Leg	muscle
16	chr21:44881800-44885000	ZNF genes & repeats	Fetal Intestine Large	intestine
17	chr21:44882200-44884000	Enhancers	Fetal Brain Female	brain
18	chr21:44882200-44886400	Enhancers	Liver	Liver
19	chr21:44882600-44884000	Enhancers	Fetal Brain Male	brain
20	chr21:44882600-44891200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr21:44882800-44884000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr21:44882800-44884000	Enhancers	Psoas Muscle	Psoas
23	chr21:44882800-44884200	Enhancers	Brain Germinal Matrix	brain
24	chr21:44882800-44885000	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr21:44882800-44887600	Enhancers	Placenta	Placenta
26	chr21:44883000-44883800	Weak transcription	Gastric	stomach
27	chr21:44883000-44884000	Enhancers	Fetal Heart	heart
28	chr21:44883000-44884000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr21:44883000-44884200	Enhancers	HSMMtube	muscle
30	chr21:44883000-44884600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr21:44883000-44885400	Enhancers	Adipose Nuclei	Adipose
32	chr21:44883200-44884200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr21:44883200-44884400	Weak transcription	Ovary	ovary
34	chr21:44883200-44884600	Enhancers	Hela-S3	cervix
35	chr21:44883400-44883800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr21:44883400-44884000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:44883400-44884000	Enhancers	Esophagus	oesophagus
38	chr21:44883400-44884000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr21:44883400-44884000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr21:44883400-44884000	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr21:44883400-44884200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr21:44883400-44884200	Enhancers	Colon Smooth Muscle	Colon
43	chr21:44883400-44884400	Enhancers	HSMM	muscle
44	chr21:44883400-44884600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr21:44883400-44884600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr21:44883400-44884600	Enhancers	Brain Hippocampus Middle	brain
47	chr21:44883400-44884800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr21:44883400-44885000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr21:44883400-44889800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr21:44883600-44883800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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