Variant report

Variant	rs73892523
Chromosome Location	chr21:17128318-17128319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:17128179..17129872-chr21:17129945..17132364,2	K562	blood:
2	chr21:17102136..17104047-chr21:17126942..17128676,2	K562	blood:
3	chr21:17127290..17130073-chr21:17133451..17135040,2	MCF-7	breast:
4	chr21:17121263..17123662-chr21:17127297..17128832,2	K562	blood:

Variant related genes	Relation type
ENSG00000155313	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2243325	1.00[EUR][1000 genomes]
rs56159310	1.00[AMR][1000 genomes]
rs56292282	1.00[AMR][1000 genomes]
rs57732471	1.00[AMR][1000 genomes]
rs58148184	1.00[EUR][1000 genomes]
rs59764941	1.00[AMR][1000 genomes]
rs73353496	1.00[EUR][1000 genomes]
rs73355421	1.00[EUR][1000 genomes]
rs73892530	1.00[EUR][1000 genomes]
rs73892531	1.00[EUR][1000 genomes]
rs73892532	1.00[EUR][1000 genomes]
rs73892533	1.00[EUR][1000 genomes]
rs73892534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73892535	1.00[AMR][1000 genomes]
rs73892536	1.00[EUR][1000 genomes]
rs73892537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73892545	1.00[AMR][1000 genomes]
rs73892547	1.00[AMR][1000 genomes]
rs73892551	1.00[AMR][1000 genomes]
rs73892557	1.00[AMR][1000 genomes]
rs73892558	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1815433	chr21:17106192-17167353	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv275197	chr21:17123855-17130358	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17104200-17133400	Weak transcription	Colonic Mucosa	Colon
2	chr21:17115200-17130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:17115400-17145400	Weak transcription	Fetal Thymus	thymus
4	chr21:17115600-17133400	Weak transcription	Dnd41	blood
5	chr21:17115600-17139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr21:17116200-17139400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr21:17116600-17145400	Weak transcription	Esophagus	oesophagus
8	chr21:17122200-17129200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr21:17122600-17129000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr21:17122600-17142800	Weak transcription	Hela-S3	cervix
11	chr21:17123400-17129400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr21:17123400-17129400	Enhancers	Small Intestine	intestine
13	chr21:17123400-17130200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr21:17123600-17133000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr21:17124800-17128800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:17124800-17129200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr21:17124800-17129400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr21:17124800-17130200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr21:17124800-17130200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr21:17125000-17129800	Enhancers	HUVEC	blood vessel
21	chr21:17125200-17129400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr21:17125600-17129400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr21:17125800-17133600	Weak transcription	Lung	lung
24	chr21:17125800-17153400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:17126200-17134600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr21:17126400-17129400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr21:17126400-17129400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr21:17126400-17129400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr21:17126600-17128800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr21:17126600-17130200	ZNF genes & repeats	GM12878-XiMat	blood
31	chr21:17126600-17131200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr21:17126600-17137200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr21:17126800-17128600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr21:17126800-17128800	Weak transcription	Primary T cells from cord blood	blood
35	chr21:17126800-17133600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:17126800-17147600	Weak transcription	Placenta	Placenta
37	chr21:17127000-17128400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr21:17127000-17128400	ZNF genes & repeats	A549	lung
39	chr21:17127000-17128600	Weak transcription	Gastric	stomach
40	chr21:17127000-17128600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr21:17127000-17130400	Weak transcription	Aorta	Aorta
42	chr21:17127000-17131800	Weak transcription	Right Atrium	heart
43	chr21:17127000-17132000	Weak transcription	Fetal Heart	heart
44	chr21:17127000-17133400	Weak transcription	Pancreas	Pancrea
45	chr21:17127000-17147400	Weak transcription	HSMMtube	muscle
46	chr21:17127000-17152800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr21:17127200-17129000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr21:17127200-17129000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr21:17127200-17129200	Weak transcription	Left Ventricle	heart
50	chr21:17127200-17129600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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