Variant report

Variant	rs230634
Chromosome Location	chr21:44886119-44886120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:44883152..44886989-chr21:44891173..44894639,3	K562	blood:
2	chr21:44885660..44888492-chr21:44912616..44914630,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185186	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11088981	1.00[CHD][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap]
rs12626667	0.90[JPT][hapmap]
rs12626693	0.90[JPT][hapmap]
rs12626954	1.00[CHD][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap]
rs17004551	1.00[CHD][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap]
rs17004552	1.00[CHD][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap]
rs17004553	0.93[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs17004554	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs17004555	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs1865757	1.00[CHD][hapmap]
rs1865758	0.81[JPT][hapmap]
rs229344	0.89[JPT][hapmap]
rs2838305	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs430554	0.89[JPT][hapmap]
rs476861	0.90[JPT][hapmap]
rs6518212	1.00[JPT][hapmap]
rs7279895	0.90[JPT][hapmap]
rs7281089	1.00[JPT][hapmap]
rs7281094	0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7282498	1.00[CHD][hapmap];0.90[JPT][hapmap]
rs8131995	1.00[JPT][hapmap]
rs9647237	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9680399	1.00[CHD][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap]
rs9982011	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9982824	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44878800-44886400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:44879000-44889200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr21:44879400-44889400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:44880600-44890800	Enhancers	HepG2	liver
5	chr21:44882200-44886400	Enhancers	Liver	Liver
6	chr21:44882600-44891200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr21:44882800-44887600	Enhancers	Placenta	Placenta
8	chr21:44883400-44889800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:44883800-44886800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:44884000-44886400	Enhancers	Stomach Mucosa	stomach
11	chr21:44884000-44888200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr21:44884000-44889000	Weak transcription	Esophagus	oesophagus
13	chr21:44884000-44891000	Weak transcription	Psoas Muscle	Psoas
14	chr21:44884200-44887200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr21:44884200-44888800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr21:44884400-44886200	Weak transcription	HSMM	muscle
17	chr21:44884400-44886400	Weak transcription	Osteobl	bone
18	chr21:44884400-44887600	Weak transcription	Right Atrium	heart
19	chr21:44884600-44886200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr21:44884600-44886200	Weak transcription	HSMMtube	muscle
21	chr21:44884600-44886600	Weak transcription	Spleen	Spleen
22	chr21:44884600-44886800	Weak transcription	Fetal Lung	lung
23	chr21:44884800-44886200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:44884800-44887600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:44884800-44887800	Weak transcription	Gastric	stomach
26	chr21:44884800-44890800	Weak transcription	Fetal Stomach	stomach
27	chr21:44885200-44886400	Enhancers	Fetal Intestine Large	intestine
28	chr21:44885200-44886400	Enhancers	Fetal Intestine Small	intestine
29	chr21:44885200-44886600	Weak transcription	NH-A	brain
30	chr21:44885400-44887800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr21:44885600-44886600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr21:44885600-44887000	Weak transcription	A549	lung
33	chr21:44885600-44894000	Weak transcription	Hela-S3	cervix
34	chr21:44886000-44886200	Enhancers	Brain Anterior Caudate	brain
35	chr21:44886000-44886200	Enhancers	Pancreas	Pancrea
36	chr21:44886000-44886400	Enhancers	Lung	lung

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