Variant report

Variant	rs17177044
Chromosome Location	chr21:47653944-47653945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47646929..47655402-chr21:47657205..47667464,13	MCF-7	breast:
2	chr21:47574929..47577597-chr21:47652186..47654212,3	MCF-7	breast:
3	chr12:6579433..6580135-chr21:47653785..47654319,2	NB4	blood:
4	chr21:47653573..47654422-chr21:47666524..47667070,2	K562	blood:
5	chr21:47653008..47655194-chr21:47704386..47706163,2	MCF-7	breast:
6	chr21:47649475..47654213-chr21:47668159..47671239,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160282	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000228137	Chromatin interaction
ENSG00000139190	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17176709	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
2	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
3	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
4	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
5	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
6	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
7	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
8	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
9	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
10	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
11	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
12	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
13	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
14	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
15	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
16	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
17	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
18	nsv933354	chr21:47609029-47851401	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
19	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
20	nsv914134	chr21:47632995-47712185	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a
21	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47649800-47654000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:47649800-47654200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr21:47649800-47654400	Weak transcription	Aorta	Aorta
4	chr21:47649800-47654400	Weak transcription	Colonic Mucosa	Colon
5	chr21:47649800-47654400	Weak transcription	Right Ventricle	heart
6	chr21:47649800-47701600	Weak transcription	Right Atrium	heart
7	chr21:47650000-47654000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr21:47650000-47654000	Weak transcription	Brain Angular Gyrus	brain
9	chr21:47650000-47654000	Weak transcription	Brain Substantia Nigra	brain
10	chr21:47650000-47654000	Weak transcription	Colon Smooth Muscle	Colon
11	chr21:47650000-47654200	Weak transcription	Gastric	stomach
12	chr21:47650000-47654200	Weak transcription	Psoas Muscle	Psoas
13	chr21:47650000-47654200	Weak transcription	Spleen	Spleen
14	chr21:47650000-47654400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr21:47650000-47658600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr21:47650000-47658600	Weak transcription	Small Intestine	intestine
17	chr21:47650000-47705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr21:47650200-47654000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr21:47650200-47654200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr21:47650200-47654800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr21:47650200-47667000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:47650400-47654000	Weak transcription	Fetal Brain Male	brain
23	chr21:47650400-47654400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr21:47650400-47654400	Weak transcription	Stomach Mucosa	stomach
25	chr21:47650400-47658800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr21:47650600-47654000	Weak transcription	Fetal Heart	heart
27	chr21:47650600-47654600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr21:47650600-47656800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr21:47650600-47669800	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr21:47650800-47654200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr21:47650800-47656600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:47650800-47701000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr21:47650800-47701400	Strong transcription	Fetal Muscle Leg	muscle
34	chr21:47650800-47701600	Strong transcription	Fetal Stomach	stomach
35	chr21:47651000-47656800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr21:47651000-47656800	Strong transcription	NHEK	skin
37	chr21:47651000-47703200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr21:47651200-47656800	Strong transcription	A549	lung
39	chr21:47651200-47657200	Strong transcription	HMEC	breast
40	chr21:47651200-47657400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr21:47651200-47657400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:47651200-47701400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr21:47651400-47654200	ZNF genes & repeats	Fetal Brain Female	brain
44	chr21:47651400-47656800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr21:47651400-47657000	Strong transcription	NH-A	brain
46	chr21:47651600-47654200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr21:47651600-47657800	Strong transcription	Fetal Intestine Large	intestine
48	chr21:47651600-47670400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:47651600-47673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:47651600-47679000	Strong transcription	HSMM	muscle

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