Variant report

Variant	rs56218303
Chromosome Location	chr21:45460697-45460698
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	chr21:45459919..45462703-chr21:45497530..45499751,2	K562	blood:
2	chr21:45430957..45434047-chr21:45458987..45462690,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2838463	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers 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	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064549	chr21:45446358-45493720	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45445200-45471400	Weak transcription	Stomach Mucosa	stomach
2	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:45445800-45471400	Weak transcription	Right Atrium	heart
4	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
5	chr21:45446600-45479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr21:45450600-45461400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr21:45450800-45461200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr21:45451000-45461200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr21:45451000-45494400	Weak transcription	Fetal Brain Male	brain
10	chr21:45451400-45460800	Strong transcription	Fetal Intestine Large	intestine
11	chr21:45451400-45460800	Strong transcription	Fetal Stomach	stomach
12	chr21:45451400-45461200	Strong transcription	Liver	Liver
13	chr21:45451400-45461200	Strong transcription	Dnd41	blood
14	chr21:45451400-45461400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr21:45451600-45460800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr21:45451600-45460800	Strong transcription	Fetal Thymus	thymus
17	chr21:45451800-45460800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr21:45451800-45461200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr21:45451800-45462200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr21:45452000-45461200	Strong transcription	Adipose Nuclei	Adipose
21	chr21:45452200-45460800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:45452200-45460800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr21:45452200-45461400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr21:45452400-45460800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr21:45452400-45460800	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr21:45452400-45460800	Strong transcription	Thymus	Thymus
27	chr21:45452400-45461200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:45452400-45462200	Strong transcription	Fetal Intestine Small	intestine
29	chr21:45452600-45460800	Strong transcription	Lung	lung
30	chr21:45452600-45462000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr21:45453200-45461200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr21:45454200-45461400	Strong transcription	Brain Anterior Caudate	brain
33	chr21:45455000-45475600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr21:45455200-45469000	Weak transcription	Fetal Kidney	kidney
35	chr21:45455200-45469200	Weak transcription	Psoas Muscle	Psoas
36	chr21:45456000-45469000	Weak transcription	HUVEC	blood vessel
37	chr21:45457000-45460800	Strong transcription	Right Ventricle	heart
38	chr21:45457000-45468200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr21:45457600-45469200	Weak transcription	NH-A	brain
40	chr21:45457600-45474000	Weak transcription	A549	lung
41	chr21:45457800-45475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:45458000-45482800	Weak transcription	HMEC	breast
43	chr21:45458200-45479400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr21:45458200-45483000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr21:45458400-45469000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr21:45458600-45462000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr21:45458800-45463400	Weak transcription	K562	blood
48	chr21:45458800-45466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr21:45458800-45468000	Weak transcription	HSMMtube	muscle
50	chr21:45458800-45469000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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