Variant report

Variant	rs2838443
Chromosome Location	chr21:45359808-45359809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45357331..45359894-chr21:45430362..45432544,2	MCF-7	breast:
2	chr21:45335675..45337724-chr21:45358357..45360411,2	K562	blood:
3	chr21:45279077..45280867-chr21:45358882..45361761,2	K562	blood:
4	chr21:45146056..45148886-chr21:45358473..45360554,2	K562	blood:
5	chr21:45340527..45345737-chr21:45352879..45360873,10	K562	blood:
6	chr21:45350315..45351023-chr21:45358995..45360019,3	MCF-7	breast:
7	chr21:45281403..45288287-chr21:45354667..45363125,18	K562	blood:
8	chr21:45284305..45287858-chr21:45357058..45361735,4	MCF-7	breast:
9	chr21:45301296..45303412-chr21:45359569..45361087,2	MCF-7	breast:
10	chr21:45313485..45315403-chr21:45358568..45360519,2	K562	blood:
11	chr21:45358391..45361361-chr21:45366953..45369647,2	MCF-7	breast:
12	chr21:45223833..45232004-chr21:45356708..45361221,12	K562	blood:
13	chr21:45195046..45197218-chr21:45357463..45360101,2	K562	blood:
14	chr21:45285861..45287868-chr21:45358752..45361142,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215458	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2070545	0.84[YRI][hapmap];0.92[AFR][1000 genomes]
rs2329629	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2838417	1.00[CHB][hapmap]
rs2838442	0.84[YRI][hapmap];0.95[AFR][1000 genomes]
rs3737358	0.82[JPT][hapmap]
rs3788076	1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs3788083	0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3788089	1.00[JPT][hapmap]
rs7278317	1.00[JPT][hapmap]
rs73371168	0.95[AFR][1000 genomes]
rs73371188	0.93[ASN][1000 genomes]
rs73371191	0.93[ASN][1000 genomes]
rs8134181	0.91[YRI][hapmap];0.90[AFR][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	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
3	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
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv1055772	chr21:45353436-45373304	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45343000-45372400	Weak transcription	Small Intestine	intestine
2	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr21:45348400-45363800	Weak transcription	Aorta	Aorta
4	chr21:45350400-45364000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:45352400-45368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr21:45353600-45366600	Weak transcription	Fetal Brain Female	brain
7	chr21:45358400-45360800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:45358600-45360000	Strong transcription	Dnd41	blood
9	chr21:45358600-45360800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr21:45359000-45360000	Weak transcription	Psoas Muscle	Psoas
11	chr21:45359000-45360200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:45359000-45361800	Weak transcription	Primary B cells from cord blood	blood
13	chr21:45359000-45363800	Weak transcription	Fetal Lung	lung
14	chr21:45359000-45364000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:45359000-45364000	Weak transcription	Brain Substantia Nigra	brain
16	chr21:45359000-45368800	Weak transcription	Brain Angular Gyrus	brain
17	chr21:45359000-45369200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr21:45359000-45369200	Weak transcription	Brain Germinal Matrix	brain
19	chr21:45359000-45371400	Weak transcription	HSMMtube	muscle
20	chr21:45359200-45360000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr21:45359200-45360400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:45359200-45360400	Weak transcription	Primary T cells from cord blood	blood
23	chr21:45359200-45360400	Enhancers	Colonic Mucosa	Colon
24	chr21:45359200-45360400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr21:45359200-45360600	Weak transcription	Ovary	ovary
26	chr21:45359200-45361000	Enhancers	Liver	Liver
27	chr21:45359200-45361200	Enhancers	Duodenum Mucosa	Duodenum
28	chr21:45359200-45361600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:45359200-45361600	Enhancers	Fetal Intestine Large	intestine
30	chr21:45359200-45361800	Genic enhancers	Fetal Intestine Small	intestine
31	chr21:45359200-45364200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:45359200-45364600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr21:45359200-45366400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr21:45359200-45366600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr21:45359200-45368000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr21:45359200-45368000	Strong transcription	Fetal Stomach	stomach
37	chr21:45359200-45368400	Weak transcription	HSMM	muscle
38	chr21:45359200-45368800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr21:45359200-45376000	Weak transcription	HUVEC	blood vessel
40	chr21:45359200-45378800	Weak transcription	NHEK	skin
41	chr21:45359200-45379000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr21:45359400-45360200	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr21:45359400-45360200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr21:45359400-45360200	Genic enhancers	GM12878-XiMat	blood
45	chr21:45359400-45360400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr21:45359400-45361000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr21:45359400-45361200	Enhancers	Brain Hippocampus Middle	brain
48	chr21:45359400-45361400	Weak transcription	Osteobl	bone
49	chr21:45359400-45363400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr21:45359400-45363600	Weak transcription	Fetal Heart	heart

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