Variant report

Variant	rs2156426
Chromosome Location	chr21:45131556-45131557
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 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	chr21:45123766..45125977-chr21:45129087..45131588,2	K562	blood:
5	chr21:45131275..45134749-chr21:45135159..45139580,7	K562	blood:
6	chr21:44935152..44938727-chr21:45130277..45133903,3	MCF-7	breast:
7	chr21:45131271..45133186-chr21:45431822..45433921,2	MCF-7	breast:
8	chr21:45130981..45133882-chr21:45206562..45209340,2	K562	blood:
9	chr21:45126696..45129955-chr21:45130404..45132264,4	MCF-7	breast:
10	chr21:45078177..45082024-chr21:45131002..45134092,5	MCF-7	breast:
11	chr21:45118243..45120593-chr21:45129634..45132002,2	MCF-7	breast:
12	chr21:45130889..45133239-chr21:45139686..45141208,2	K562	blood:
13	chr21:45077151..45082106-chr21:45128357..45133852,8	MCF-7	breast:

No data

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10432969	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10432970	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10432971	0.98[ASN][1000 genomes]
rs13053089	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2012989	0.89[ASN][1000 genomes]
rs2329594	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4818862	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819295	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4819296	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4819299	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6417730	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1066728	chr21:45089877-45131723	Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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:42 , 50 per page) page: 1

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	chr21:45123400-45131600	Weak transcription	NHEK	skin
5	chr21:45123600-45132200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr21:45123600-45138400	Weak transcription	Right Atrium	heart
7	chr21:45123800-45131600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:45123800-45132000	Weak transcription	HSMMtube	muscle
9	chr21:45130400-45131800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr21:45130400-45131800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr21:45130600-45133000	Flanking Active TSS	Hela-S3	cervix
12	chr21:45130800-45131600	Weak transcription	Adipose Nuclei	Adipose
13	chr21:45130800-45131600	Weak transcription	HSMM	muscle
14	chr21:45130800-45131800	Enhancers	Fetal Intestine Small	intestine
15	chr21:45130800-45132200	Weak transcription	Fetal Muscle Leg	muscle
16	chr21:45130800-45132200	Weak transcription	Fetal Thymus	thymus
17	chr21:45130800-45132400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr21:45130800-45132800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:45131000-45131800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr21:45131000-45131800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr21:45131000-45131800	Enhancers	Fetal Intestine Large	intestine
22	chr21:45131000-45132200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr21:45131000-45132200	Enhancers	Fetal Kidney	kidney
24	chr21:45131000-45132600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr21:45131000-45132800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr21:45131200-45132000	Active TSS	Colonic Mucosa	Colon
27	chr21:45131200-45132200	Enhancers	Stomach Mucosa	stomach
28	chr21:45131200-45132400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr21:45131200-45132600	Active TSS	Duodenum Mucosa	Duodenum
30	chr21:45131200-45132800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr21:45131200-45132800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr21:45131200-45132800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr21:45131200-45132800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr21:45131400-45131600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr21:45131400-45131600	Enhancers	Placenta	Placenta
36	chr21:45131400-45131600	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr21:45131400-45131800	Active TSS	HepG2	liver
38	chr21:45131400-45132000	Weak transcription	K562	blood
39	chr21:45131400-45132600	Weak transcription	Fetal Lung	lung
40	chr21:45131400-45132800	Active TSS	A549	lung
41	chr21:45131400-45133200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr21:45131400-45138200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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