Variant report

Variant	rs7282644
Chromosome Location	chr21:45465588-45465589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45454985..45459889-chr21:45463803..45466700,4	K562	blood:
2	chr21:45454985..45457664-chr21:45464641..45466700,2	K562	blood:
3	chr21:45462776..45465739-chr21:45484700..45487223,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs2020943	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2071144	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2071145	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2227265	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838465	0.96[ASN][1000 genomes]
rs2838470	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838479	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838484	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838487	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838495	0.84[EUR][1000 genomes]
rs2838497	0.84[EUR][1000 genomes]
rs28834388	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57812760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57855582	0.83[ASN][1000 genomes]
rs60503863	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61689295	0.92[EUR][1000 genomes]
rs62226718	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62226719	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62226722	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62226723	0.92[EUR][1000 genomes]
rs62226724	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7275501	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73909115	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128926	0.84[EUR][1000 genomes]
rs9284512	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9306175	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9974767	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9975436	1.00[EUR][1000 genomes]
rs9977122	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9977460	0.95[ASN][1000 genomes]
rs9978109	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9978772	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9979931	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9980021	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9982695	1.00[EUR][1000 genomes]
rs9982907	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983551	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9983596	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9984876	0.96[ASN][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	chr21:45451000-45494400	Weak transcription	Fetal Brain Male	brain
7	chr21:45455000-45475600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr21:45455200-45469000	Weak transcription	Fetal Kidney	kidney
9	chr21:45455200-45469200	Weak transcription	Psoas Muscle	Psoas
10	chr21:45456000-45469000	Weak transcription	HUVEC	blood vessel
11	chr21:45457000-45468200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr21:45457600-45469200	Weak transcription	NH-A	brain
13	chr21:45457600-45474000	Weak transcription	A549	lung
14	chr21:45457800-45475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:45458000-45482800	Weak transcription	HMEC	breast
16	chr21:45458200-45479400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr21:45458200-45483000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr21:45458400-45469000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr21:45458800-45466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr21:45458800-45468000	Weak transcription	HSMMtube	muscle
21	chr21:45458800-45469000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:45458800-45471600	Weak transcription	Small Intestine	intestine
23	chr21:45459000-45470400	Weak transcription	Colon Smooth Muscle	Colon
24	chr21:45459000-45471400	Weak transcription	Fetal Lung	lung
25	chr21:45459000-45474800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr21:45459000-45475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr21:45459200-45471600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr21:45459200-45471600	Weak transcription	NHDF-Ad	bronchial
29	chr21:45459200-45472400	Weak transcription	Brain Germinal Matrix	brain
30	chr21:45459400-45465800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr21:45459400-45466000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr21:45459400-45466200	Weak transcription	Colonic Mucosa	Colon
33	chr21:45459400-45466200	Weak transcription	Esophagus	oesophagus
34	chr21:45459400-45466400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr21:45459400-45466800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr21:45459400-45467400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr21:45459400-45467600	Weak transcription	Brain Substantia Nigra	brain
38	chr21:45459400-45467800	Weak transcription	Fetal Muscle Leg	muscle
39	chr21:45459400-45467800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr21:45459400-45468000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr21:45459400-45468000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr21:45459400-45469000	Weak transcription	NHLF	lung
43	chr21:45459400-45469000	Weak transcription	Osteobl	bone
44	chr21:45459400-45469400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr21:45459400-45471600	Weak transcription	Gastric	stomach
46	chr21:45459400-45471800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr21:45459400-45472000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr21:45459400-45472800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr21:45459400-45473400	Weak transcription	HepG2	liver
50	chr21:45459400-45478000	Weak transcription	Aorta	Aorta

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