Variant report

Variant	rs2838461
Chromosome Location	chr21:45399571-45399572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45399246..45402021-chr21:45429324..45431485,3	MCF-7	breast:
2	chr21:45394072..45397426-chr21:45398939..45402016,4	K562	blood:
3	chr21:45393503..45396203-chr21:45397849..45399605,2	MCF-7	breast:
4	chr21:45399321..45400230-chr21:45687198..45688294,3	K562	blood:
5	chr21:45395550..45398275-chr21:45399563..45401306,2	K562	blood:
6	chr21:45397719..45400643-chr21:45719972..45722043,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141959	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11537798	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11911398	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17004619	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039273	1.00[JPT][hapmap]
rs2838454	0.86[EUR][1000 genomes]
rs2838457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57209759	0.90[ASN][1000 genomes]
rs7283150	0.90[ASN][1000 genomes]
rs73373134	0.96[EUR][1000 genomes]
rs73373146	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73373152	0.93[EUR][1000 genomes]
rs73906692	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73906701	0.99[EUR][1000 genomes]
rs8133463	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45377000-45400800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr21:45378200-45403800	Strong transcription	Dnd41	blood
3	chr21:45378600-45400800	Weak transcription	NH-A	brain
4	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
5	chr21:45379000-45406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr21:45379600-45405000	Weak transcription	NHDF-Ad	bronchial
7	chr21:45381600-45400800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:45382000-45402600	Weak transcription	Small Intestine	intestine
9	chr21:45383200-45405400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr21:45383200-45405400	Weak transcription	Hela-S3	cervix
11	chr21:45383400-45405200	Weak transcription	HUVEC	blood vessel
12	chr21:45387600-45401400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr21:45389600-45401200	Weak transcription	Psoas Muscle	Psoas
14	chr21:45391600-45406800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:45391800-45399800	Weak transcription	Primary B cells from cord blood	blood
16	chr21:45392000-45406800	Weak transcription	NHEK	skin
17	chr21:45393000-45405200	Weak transcription	HepG2	liver
18	chr21:45393200-45401000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr21:45393200-45413800	Weak transcription	HSMMtube	muscle
20	chr21:45393600-45401000	Weak transcription	Aorta	Aorta
21	chr21:45393800-45400400	Weak transcription	NHLF	lung
22	chr21:45395400-45400600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:45395400-45401000	Weak transcription	Brain Angular Gyrus	brain
24	chr21:45395400-45401400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr21:45395400-45401800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr21:45395400-45403800	Weak transcription	Fetal Kidney	kidney
27	chr21:45395400-45406000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr21:45395600-45400000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr21:45395600-45400800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr21:45395600-45402000	Weak transcription	Fetal Brain Male	brain
31	chr21:45395600-45404200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr21:45395800-45400200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr21:45395800-45401000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr21:45395800-45401000	Weak transcription	Brain Substantia Nigra	brain
35	chr21:45395800-45401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr21:45395800-45405000	Strong transcription	Fetal Intestine Small	intestine
37	chr21:45395800-45405400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr21:45395800-45405600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr21:45396200-45404200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr21:45396600-45403000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr21:45396600-45403600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr21:45396600-45403800	Strong transcription	Liver	Liver
43	chr21:45396600-45404200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr21:45396600-45404200	Strong transcription	Esophagus	oesophagus
45	chr21:45396600-45404200	Strong transcription	Thymus	Thymus
46	chr21:45396600-45404400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:45396600-45404800	Strong transcription	Fetal Stomach	stomach
48	chr21:45396800-45403600	Strong transcription	Fetal Intestine Large	intestine
49	chr21:45396800-45405000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr21:45397000-45404200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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