Variant report

Variant	rs2329594
Chromosome Location	chr21:45131795-45131796
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45085920..45088210-chr21:45131139..45133231,2	MCF-7	breast:
2	chr21:45073951..45077594-chr21:45129226..45132110,3	MCF-7	breast:
3	chr21:45129817..45132272-chr21:45195009..45196522,2	MCF-7	breast:
4	chr21:45131275..45134749-chr21:45135159..45139580,7	K562	blood:
5	chr21:44935152..44938727-chr21:45130277..45133903,3	MCF-7	breast:
6	chr21:45131271..45133186-chr21:45431822..45433921,2	MCF-7	breast:
7	chr21:45130981..45133882-chr21:45206562..45209340,2	K562	blood:
8	chr21:45126696..45129955-chr21:45130404..45132264,4	MCF-7	breast:
9	chr21:45078177..45082024-chr21:45131002..45134092,5	MCF-7	breast:
10	chr21:45118243..45120593-chr21:45129634..45132002,2	MCF-7	breast:
11	chr21:45130889..45133239-chr21:45139686..45141208,2	K562	blood:
12	chr21:45077151..45082106-chr21:45128357..45133852,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160213	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160208	Chromatin interaction
ENSG00000160207	Chromatin interaction
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10432969	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10432970	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10432971	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13053089	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2012989	0.88[ASN][1000 genomes]
rs2156426	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2186924	0.80[EUR][1000 genomes]
rs4818862	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819299	0.97[ASN][1000 genomes]
rs6518315	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	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
5	nsv1066613	chr21:45108233-45148136	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv3424986	chr21:45118675-45158421	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv3329872	chr21:45118725-45158757	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv913875	chr21:45119629-45191005	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv587701	chr21:45128190-45181446	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv459290	chr21:45128454-45191139	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv587702	chr21:45128454-45191139	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45115800-45131800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr21:45116600-45132200	Weak transcription	NHLF	lung
3	chr21:45123200-45138200	Weak transcription	Ovary	ovary
4	chr21:45123600-45132200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr21:45123600-45138400	Weak transcription	Right Atrium	heart
6	chr21:45123800-45132000	Weak transcription	HSMMtube	muscle
7	chr21:45130400-45131800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr21:45130400-45131800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr21:45130600-45133000	Flanking Active TSS	Hela-S3	cervix
10	chr21:45130800-45131800	Enhancers	Fetal Intestine Small	intestine
11	chr21:45130800-45132200	Weak transcription	Fetal Muscle Leg	muscle
12	chr21:45130800-45132200	Weak transcription	Fetal Thymus	thymus
13	chr21:45130800-45132400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr21:45130800-45132800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:45131000-45131800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr21:45131000-45131800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr21:45131000-45131800	Enhancers	Fetal Intestine Large	intestine
18	chr21:45131000-45132200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr21:45131000-45132200	Enhancers	Fetal Kidney	kidney
20	chr21:45131000-45132600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr21:45131000-45132800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr21:45131200-45132000	Active TSS	Colonic Mucosa	Colon
23	chr21:45131200-45132200	Enhancers	Stomach Mucosa	stomach
24	chr21:45131200-45132400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr21:45131200-45132600	Active TSS	Duodenum Mucosa	Duodenum
26	chr21:45131200-45132800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr21:45131200-45132800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr21:45131200-45132800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr21:45131200-45132800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr21:45131400-45131800	Active TSS	HepG2	liver
31	chr21:45131400-45132000	Weak transcription	K562	blood
32	chr21:45131400-45132600	Weak transcription	Fetal Lung	lung
33	chr21:45131400-45132800	Active TSS	A549	lung
34	chr21:45131400-45133200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr21:45131400-45138200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:45131600-45131800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr21:45131600-45131800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr21:45131600-45132000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr21:45131600-45132000	Flanking Active TSS	Placenta	Placenta
40	chr21:45131600-45132200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr21:45131600-45132200	Enhancers	HSMM	muscle
42	chr21:45131600-45132200	Enhancers	NHEK	skin
43	chr21:45131600-45132200	Enhancers	Osteobl	bone
44	chr21:45131600-45132400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:45131600-45132800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr21:45131600-45132800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr21:45131600-45132800	Enhancers	Esophagus	oesophagus
48	chr21:45131600-45133000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr21:45131600-45133000	Enhancers	Adipose Nuclei	Adipose
50	chr21:45131600-45133000	Active TSS	Rectal Smooth Muscle	rectum

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