Variant report

Variant	rs230641
Chromosome Location	chr21:44915441-44915442
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44750745..44752405-chr21:44914369..44916204,2	MCF-7	breast:
2	chr21:44844193..44849184-chr21:44909444..44915949,10	MCF-7	breast:
3	chr21:44762851..44766380-chr21:44911854..44916267,4	MCF-7	breast:
4	chr21:44913599..44915809-chr21:45069478..45072375,2	MCF-7	breast:
5	chr21:44909613..44912647-chr21:44913416..44916322,3	K562	blood:
6	chr21:44858418..44861523-chr21:44913554..44916370,3	MCF-7	breast:
7	chr21:44779843..44781749-chr21:44914569..44917163,2	MCF-7	breast:
8	chr21:44903994..44910512-chr21:44911444..44917945,16	MCF-7	breast:
9	chr21:44913569..44916959-chr21:44917497..44921169,3	K562	blood:
10	chr21:44906417..44911362-chr21:44912971..44916519,8	MCF-7	breast:
11	chr21:44913569..44915702-chr21:44918905..44920435,2	K562	blood:
12	chr21:44763368..44765642-chr21:44914794..44917033,2	MCF-7	breast:
13	chr21:44896105..44899668-chr21:44912906..44916928,7	MCF-7	breast:
14	chr21:44841823..44851058-chr21:44912330..44925700,37	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185186	Chromatin interaction
ENSG00000237864	Chromatin interaction
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs162345	0.81[EUR][1000 genomes]
rs162373	0.82[EUR][1000 genomes]
rs162379	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162395	0.83[EUR][1000 genomes]
rs162396	0.84[EUR][1000 genomes]
rs162398	0.84[EUR][1000 genomes]
rs162401	0.90[EUR][1000 genomes]
rs167930	0.83[EUR][1000 genomes]
rs230640	0.87[EUR][1000 genomes]
rs230644	0.87[EUR][1000 genomes]
rs230645	0.84[EUR][1000 genomes]
rs230646	0.87[EUR][1000 genomes]
rs8133780	0.88[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv587689	chr21:44884252-44986050	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
16	nsv1061369	chr21:44886596-44931388	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv544468	chr21:44886596-44931388	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv1059264	chr21:44895863-44944515	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44912400-44916000	Bivalent Enhancer	Fetal Muscle Leg	muscle
2	chr21:44912600-44915600	Enhancers	HMEC	breast
3	chr21:44912600-44915800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr21:44912600-44916000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:44912800-44915600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:44912800-44915800	Enhancers	Placenta	Placenta
7	chr21:44912800-44918400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr21:44913000-44915600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:44913000-44915600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:44913000-44915600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:44913000-44915600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr21:44913000-44915800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:44913000-44915800	Enhancers	NHEK	skin
14	chr21:44913200-44915600	Enhancers	Psoas Muscle	Psoas
15	chr21:44913200-44915600	Enhancers	Stomach Mucosa	stomach
16	chr21:44913200-44916000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr21:44913200-44916000	Enhancers	NH-A	brain
18	chr21:44913200-44916200	Enhancers	Osteobl	bone
19	chr21:44913400-44916000	Enhancers	NHDF-Ad	bronchial
20	chr21:44914000-44918000	Weak transcription	Right Atrium	heart
21	chr21:44914600-44916000	Enhancers	Fetal Brain Male	brain
22	chr21:44914600-44917600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:44914600-44918000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr21:44914600-44918000	Weak transcription	Adipose Nuclei	Adipose
25	chr21:44914600-44921800	Weak transcription	Colonic Mucosa	Colon
26	chr21:44914600-44921800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr21:44914600-44922200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr21:44914800-44915600	Flanking Active TSS	HSMM	muscle
29	chr21:44914800-44916000	Flanking Active TSS	HSMMtube	muscle
30	chr21:44914800-44916200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr21:44914800-44916400	Enhancers	HepG2	liver
32	chr21:44914800-44918200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr21:44914800-44922000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr21:44915000-44916000	Enhancers	A549	lung
35	chr21:44915000-44918000	Weak transcription	Brain Anterior Caudate	brain
36	chr21:44915000-44918200	Weak transcription	Liver	Liver
37	chr21:44915000-44918600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr21:44915000-44919600	Weak transcription	Esophagus	oesophagus
39	chr21:44915000-44921800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr21:44915000-44921800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr21:44915000-44922000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr21:44915000-44922400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:44915000-44922400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr21:44915200-44917000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr21:44915200-44917400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:44915200-44917400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr21:44915200-44917400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr21:44915200-44917400	Weak transcription	NHLF	lung
49	chr21:44915200-44917600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr21:44915200-44917600	Weak transcription	Placenta Amnion	Placenta Amnion

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