Variant report

Variant	rs2838442
Chromosome Location	chr21:45357730-45357731
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45357331..45359894-chr21:45430362..45432544,2	MCF-7	breast:
2	chr21:45347618..45349669-chr21:45357451..45359063,2	MCF-7	breast:
3	chr21:45353651..45355425-chr21:45357614..45359435,2	MCF-7	breast:
4	chr21:45233511..45236046-chr21:45357246..45359137,3	K562	blood:
5	chr21:45357462..45359128-chr21:45444905..45447348,2	K562	blood:
6	chr21:45340527..45345737-chr21:45352879..45360873,10	K562	blood:
7	chr21:45281403..45288287-chr21:45354667..45363125,18	K562	blood:
8	chr21:45284305..45287858-chr21:45357058..45361735,4	MCF-7	breast:
9	chr21:45137547..45139437-chr21:45356749..45358555,2	K562	blood:
10	chr21:45206922..45209430-chr21:45356073..45358074,2	K562	blood:
11	chr21:45284948..45286512-chr21:45355740..45358055,2	K562	blood:
12	chr21:45356322..45359085-chr21:46493107..46495918,2	K562	blood:
13	chr21:45355633..45358053-chr21:45363187..45364790,2	K562	blood:
14	chr21:45233511..45237736-chr21:45356519..45359137,5	K562	blood:
15	chr21:45349099..45350809-chr21:45357162..45358991,2	MCF-7	breast:
16	chr21:45223833..45232004-chr21:45356708..45361221,12	K562	blood:
17	chr21:45229257..45231594-chr21:45356288..45358208,2	K562	blood:
18	chr21:45195046..45197218-chr21:45357463..45360101,2	K562	blood:
19	chr21:45350187..45353097-chr21:45357670..45359224,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2070545	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2248918	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs2838443	0.84[YRI][hapmap];0.95[AFR][1000 genomes]
rs3788076	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3788083	0.84[YRI][hapmap];0.95[AFR][1000 genomes]
rs73371146	0.82[AFR][1000 genomes]
rs73371158	0.92[ASN][1000 genomes]
rs73371168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8134181	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45337600-45358600	Weak transcription	Osteobl	bone
2	chr21:45338800-45358600	Weak transcription	Hela-S3	cervix
3	chr21:45340800-45358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:45341400-45358600	Weak transcription	A549	lung
5	chr21:45342200-45358800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:45343000-45372400	Weak transcription	Small Intestine	intestine
7	chr21:45343600-45358000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr21:45343800-45358600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:45343800-45358600	Weak transcription	HSMM	muscle
10	chr21:45343800-45358800	Weak transcription	Ovary	ovary
11	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:45344400-45358400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr21:45345200-45358600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr21:45345400-45358600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:45348400-45363800	Weak transcription	Aorta	Aorta
16	chr21:45348800-45358600	Weak transcription	NHEK	skin
17	chr21:45349400-45359200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:45350000-45358400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr21:45350200-45358600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr21:45350400-45364000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:45351000-45358400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr21:45351200-45358600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:45351200-45358600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr21:45351200-45358600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr21:45352400-45368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr21:45353600-45358600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr21:45353600-45358800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr21:45353600-45358800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr21:45353600-45358800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr21:45353600-45366600	Weak transcription	Fetal Brain Female	brain
31	chr21:45353800-45358600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:45353800-45358600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr21:45354600-45358600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr21:45355000-45358400	Enhancers	K562	blood
35	chr21:45355000-45358600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr21:45355000-45358600	Weak transcription	Dnd41	blood
37	chr21:45355200-45358400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr21:45355200-45358400	Weak transcription	Pancreas	Pancrea
39	chr21:45355200-45358600	Weak transcription	Colonic Mucosa	Colon
40	chr21:45355200-45358800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr21:45355200-45358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr21:45355400-45358600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr21:45355600-45358200	Weak transcription	Fetal Intestine Large	intestine
44	chr21:45355600-45358400	Enhancers	HepG2	liver
45	chr21:45355600-45358400	Weak transcription	NHLF	lung
46	chr21:45355600-45358600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr21:45355600-45358800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr21:45355800-45359400	Enhancers	Left Ventricle	heart
49	chr21:45356000-45358600	Weak transcription	Primary T cells from cord blood	blood
50	chr21:45356200-45358400	Weak transcription	Placenta	Placenta

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