Variant report

Variant	rs230647
Chromosome Location	chr21:44919654-44919655
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44913569..44916959-chr21:44917497..44921169,3	K562	blood:
2	chr21:44919342..44924591-chr21:45027154..45033706,9	MCF-7	breast:
3	chr21:44839515..44855046-chr21:44918803..44938582,70	MCF-7	breast:
4	chr21:44761951..44764235-chr21:44919017..44921465,2	MCF-7	breast:
5	chr21:44903235..44910338-chr21:44918042..44927375,22	MCF-7	breast:
6	chr21:44897939..44900290-chr21:44918989..44921699,3	MCF-7	breast:
7	chr21:44870566..44873425-chr21:44917940..44920112,2	MCF-7	breast:
8	chr21:44913569..44915702-chr21:44918905..44920435,2	K562	blood:
9	chr21:44841823..44851058-chr21:44912330..44925700,37	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction
ENSG00000185186	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1003280	0.89[ASN][1000 genomes]
rs1073522	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1122873	0.88[ASN][1000 genomes]
rs12626757	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1378079	0.90[ASN][1000 genomes]
rs1378080	0.90[ASN][1000 genomes]
rs141521	0.92[ASN][1000 genomes]
rs1454650	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1454651	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1584917	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1584918	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162343	0.88[ASN][1000 genomes]
rs162344	0.93[ASN][1000 genomes]
rs162345	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162366	0.94[ASN][1000 genomes]
rs162367	0.96[ASN][1000 genomes]
rs162368	0.94[ASN][1000 genomes]
rs162369	0.95[ASN][1000 genomes]
rs162371	0.93[ASN][1000 genomes]
rs162372	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs162373	0.95[ASN][1000 genomes]
rs162374	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162375	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162376	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162377	0.97[ASN][1000 genomes]
rs162378	0.96[ASN][1000 genomes]
rs162380	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs162381	0.99[ASN][1000 genomes]
rs162388	0.91[ASN][1000 genomes]
rs162389	0.94[ASN][1000 genomes]
rs162390	0.94[ASN][1000 genomes]
rs162391	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162392	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs162393	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162394	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162395	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162396	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162398	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162399	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162400	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162402	0.92[ASN][1000 genomes]
rs162403	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs162404	0.92[ASN][1000 genomes]
rs167930	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs189094	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs229340	0.82[EUR][1000 genomes]
rs229357	0.89[ASN][1000 genomes]
rs230640	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230642	1.00[ASN][1000 genomes]
rs230643	1.00[ASN][1000 genomes]
rs230644	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs230645	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs230646	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329442	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2838316	0.89[ASN][1000 genomes]
rs2838317	0.89[ASN][1000 genomes]
rs2838319	0.89[ASN][1000 genomes]
rs2838320	0.85[EUR][1000 genomes]
rs2838321	0.89[ASN][1000 genomes]
rs2838322	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838323	0.89[ASN][1000 genomes]
rs2838324	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838328	0.90[ASN][1000 genomes]
rs2838329	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2838330	0.90[ASN][1000 genomes]
rs2838331	0.90[ASN][1000 genomes]
rs28840140	0.88[ASN][1000 genomes]
rs3788062	0.89[ASN][1000 genomes]
rs463738	1.00[ASN][1000 genomes]
rs4818833	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4818843	0.89[ASN][1000 genomes]
rs4818850	0.90[ASN][1000 genomes]
rs4818856	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4819264	0.88[ASN][1000 genomes]
rs4819270	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4997353	0.83[ASN][1000 genomes]
rs6518301	0.89[ASN][1000 genomes]
rs6518302	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6518309	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7276215	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7276316	0.83[ASN][1000 genomes]
rs7279958	0.90[ASN][1000 genomes]
rs7282933	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs86138	0.95[ASN][1000 genomes]
rs86139	0.95[ASN][1000 genomes]
rs91424	0.99[ASN][1000 genomes]
rs9976441	0.88[ASN][1000 genomes]
rs9978811	0.89[ASN][1000 genomes]
rs9981291	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9981790	0.88[ASN][1000 genomes]
rs9983763	0.89[AFR][1000 genomes];0.89[ASN][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	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
19	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
20	esv3421691	chr21:44917724-44922022	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44914600-44921800	Weak transcription	Colonic Mucosa	Colon
2	chr21:44914600-44921800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr21:44914600-44922200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:44914800-44922000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr21:44915000-44921800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:44915000-44921800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr21:44915000-44922000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr21:44915000-44922400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:44915000-44922400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr21:44915400-44922200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:44916800-44920600	Enhancers	Fetal Muscle Leg	muscle
12	chr21:44916800-44921000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:44916800-44921200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:44916800-44924200	Enhancers	HMEC	breast
15	chr21:44917200-44921200	Enhancers	NHEK	skin
16	chr21:44917400-44923600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:44917800-44920200	Enhancers	Right Ventricle	heart
18	chr21:44917800-44921000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr21:44917800-44921000	Enhancers	HepG2	liver
20	chr21:44918000-44921000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr21:44918400-44919800	Weak transcription	Pancreas	Pancrea
22	chr21:44918400-44921600	Weak transcription	Brain Anterior Caudate	brain
23	chr21:44918400-44922400	Weak transcription	HUVEC	blood vessel
24	chr21:44918600-44921600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr21:44918600-44921800	Weak transcription	Ovary	ovary
26	chr21:44918600-44921800	Weak transcription	Right Atrium	heart
27	chr21:44918600-44922400	Weak transcription	Brain Angular Gyrus	brain
28	chr21:44918800-44921600	Weak transcription	Stomach Mucosa	stomach
29	chr21:44918800-44921600	Enhancers	Hela-S3	cervix
30	chr21:44918800-44921800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr21:44918800-44922000	Weak transcription	Liver	Liver
32	chr21:44918800-44930200	Weak transcription	Fetal Kidney	kidney
33	chr21:44919000-44920000	Enhancers	HSMM	muscle
34	chr21:44919000-44920800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr21:44919000-44920800	Enhancers	HSMMtube	muscle
36	chr21:44919000-44921800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr21:44919000-44921800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:44919000-44921800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr21:44919000-44921800	Weak transcription	Left Ventricle	heart
40	chr21:44919000-44922200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr21:44919000-44922200	Weak transcription	Fetal Lung	lung
42	chr21:44919000-44922200	Weak transcription	Fetal Stomach	stomach
43	chr21:44919200-44919800	Weak transcription	Lung	lung
44	chr21:44919200-44921600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr21:44919200-44921800	Weak transcription	Gastric	stomach
46	chr21:44919200-44921800	Weak transcription	Osteobl	bone
47	chr21:44919200-44922000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr21:44919200-44922000	Weak transcription	NH-A	brain
49	chr21:44919200-44922200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr21:44919200-44922200	Enhancers	Skeletal Muscle Male	skeletal muscle

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