Variant report

Variant	rs2838518
Chromosome Location	chr21:45614802-45614803
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45574056..45576001-chr21:45612468..45614888,2	MCF-7	breast:
2	chr21:45566742..45569322-chr21:45613127..45615094,2	MCF-7	breast:
3	chr21:45610715..45617377-chr21:45717031..45721978,7	MCF-7	breast:
4	chr21:45612553..45615742-chr21:45666296..45670643,3	MCF-7	breast:
5	chr21:45614676..45619255-chr21:45657692..45665676,14	MCF-7	breast:
6	chr21:45612993..45620081-chr21:45620303..45625017,17	MCF-7	breast:
7	chr21:45611519..45615384-chr21:45659181..45663993,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160223	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000232124	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17850433	1.00[AFR][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	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription 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	34 gene(s)	inside rSNPs	diseases
7	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription 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	65 gene(s)	inside rSNPs	diseases
10	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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	74 gene(s)	inside rSNPs	diseases
12	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
13	nsv1065479	chr21:45571324-45617878	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv913900	chr21:45577102-45640139	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	esv3411301	chr21:45609579-45620771	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv3455479	chr21:45609616-45620726	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv3455480	chr21:45609633-45620722	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2838518	TAGLN	trans	brain	seeQTL
rs2838518	TPM2	trans	brain	seeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45610400-45615000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr21:45610400-45615400	Enhancers	NHDF-Ad	bronchial
3	chr21:45610400-45616000	Weak transcription	Thymus	Thymus
4	chr21:45610800-45616600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr21:45610800-45617600	Enhancers	Placenta	Placenta
6	chr21:45611200-45616200	Weak transcription	Gastric	stomach
7	chr21:45611600-45615200	Enhancers	Colon Smooth Muscle	Colon
8	chr21:45611600-45615400	Enhancers	Brain Anterior Caudate	brain
9	chr21:45611800-45615000	Enhancers	Brain Hippocampus Middle	brain
10	chr21:45611800-45615000	Enhancers	Brain Substantia Nigra	brain
11	chr21:45612000-45615000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:45612000-45616200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:45612200-45615800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:45612200-45617200	Enhancers	Fetal Muscle Leg	muscle
15	chr21:45612400-45615000	Enhancers	Ovary	ovary
16	chr21:45612400-45615000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr21:45612400-45615600	Enhancers	Fetal Stomach	stomach
18	chr21:45612400-45616400	Weak transcription	Esophagus	oesophagus
19	chr21:45612600-45615400	Enhancers	Fetal Lung	lung
20	chr21:45612600-45616000	Enhancers	Fetal Muscle Trunk	muscle
21	chr21:45612600-45616400	Weak transcription	Right Ventricle	heart
22	chr21:45612800-45615400	Enhancers	Adipose Nuclei	Adipose
23	chr21:45612800-45616000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:45612800-45616000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:45612800-45616000	Weak transcription	Left Ventricle	heart
26	chr21:45612800-45617400	Enhancers	Primary hematopoietic stem cells	blood
27	chr21:45613200-45615600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr21:45613200-45617000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr21:45613400-45615000	Enhancers	Colonic Mucosa	Colon
30	chr21:45613600-45617200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr21:45613600-45617400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr21:45613600-45617400	Enhancers	Primary B cells from peripheral blood	blood
33	chr21:45613800-45615400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:45614000-45616000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr21:45614000-45617000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr21:45614000-45617200	Enhancers	GM12878-XiMat	blood
37	chr21:45614000-45617600	Enhancers	Primary B cells from cord blood	blood
38	chr21:45614200-45615200	Weak transcription	Fetal Intestine Large	intestine
39	chr21:45614200-45615600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr21:45614200-45616000	Weak transcription	Fetal Intestine Small	intestine
41	chr21:45614200-45616200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr21:45614400-45617400	Weak transcription	Brain Angular Gyrus	brain
43	chr21:45614600-45615000	Enhancers	Lung	lung
44	chr21:45614600-45615200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr21:45614600-45615800	Weak transcription	K562	blood
46	chr21:45614600-45616000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr21:45614600-45616000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr21:45614600-45616000	Weak transcription	Stomach Mucosa	stomach
49	chr21:45614600-45616400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr21:45614600-45616600	Weak transcription	Brain Inferior Temporal Lobe	brain

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