Variant report

Variant	rs73220997
Chromosome Location	chr21:44789610-44789611
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44788189..44792112-chr21:44793177..44796400,4	MCF-7	breast:
2	chr21:44788113..44790073-chr21:44844727..44846264,2	MCF-7	breast:
3	chr21:44782808..44785727-chr21:44787853..44790103,2	K562	blood:
4	chr21:44787865..44790312-chr21:44808214..44809942,2	MCF-7	breast:
5	chr21:44787122..44790843-chr21:44793154..44798480,6	K562	blood:
6	chr21:44785083..44788037-chr21:44788095..44789736,2	MCF-7	breast:
7	chr21:44781079..44785202-chr21:44785903..44790540,5	MCF-7	breast:
8	chr21:44786597..44791011-chr21:44796414..44799261,3	MCF-7	breast:
9	chr21:44778477..44780291-chr21:44788253..44791187,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225637	Chromatin interaction
ENSG00000237989	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11909976	0.91[ASN][1000 genomes]
rs59544893	0.98[ASN][1000 genomes]
rs762396	0.98[ASN][1000 genomes]
rs9637161	0.85[ASN][1000 genomes]
rs9637180	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	esv1817359	chr21:44699077-44821595	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	nsv1058308	chr21:44722915-44825108	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1063186	chr21:44729904-44828476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv544467	chr21:44729904-44828476	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
12	nsv913840	chr21:44750643-44823479	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
14	nsv913842	chr21:44764895-44792929	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv913843	chr21:44774757-44810756	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv913844	chr21:44779680-44875495	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
17	nsv913845	chr21:44781356-44874702	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
18	nsv470901	chr21:44781356-44884252	Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
19	esv3437918	chr21:44786624-44790922	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44782200-44791600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr21:44782400-44789800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr21:44782600-44790400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:44782800-44790000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr21:44783000-44790000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr21:44784800-44791400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr21:44785200-44791000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr21:44785600-44790400	Weak transcription	Fetal Intestine Large	intestine
9	chr21:44785600-44790800	Enhancers	Brain Angular Gyrus	brain
10	chr21:44785800-44790000	Weak transcription	Right Atrium	heart
11	chr21:44786000-44790800	Enhancers	Brain Cingulate Gyrus	brain
12	chr21:44786200-44790400	Weak transcription	Fetal Intestine Small	intestine
13	chr21:44786200-44791200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr21:44787200-44791000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr21:44788200-44790600	Enhancers	Fetal Muscle Leg	muscle
16	chr21:44788200-44790800	Enhancers	GM12878-XiMat	blood
17	chr21:44788400-44789800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:44788400-44795800	Weak transcription	Spleen	Spleen
19	chr21:44788600-44789800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:44788600-44790200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
21	chr21:44788600-44794000	Enhancers	Esophagus	oesophagus
22	chr21:44788800-44791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:44788800-44791800	Enhancers	Primary B cells from peripheral blood	blood
24	chr21:44788800-44794200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr21:44788800-44795400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr21:44789000-44789800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr21:44789000-44789800	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr21:44789000-44790000	Enhancers	NHDF-Ad	bronchial
29	chr21:44789000-44790200	Bivalent Enhancer	NH-A	brain
30	chr21:44789000-44790400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:44789000-44790400	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr21:44789000-44790400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr21:44789000-44790800	Bivalent Enhancer	Placenta	Placenta
34	chr21:44789000-44791000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr21:44789000-44791000	Enhancers	Fetal Lung	lung
36	chr21:44789000-44791200	Enhancers	NHEK	skin
37	chr21:44789000-44791400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr21:44789000-44794200	Enhancers	HMEC	breast
39	chr21:44789200-44789800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr21:44789200-44790400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr21:44789200-44790600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr21:44789200-44791200	Enhancers	Fetal Brain Male	brain
43	chr21:44789400-44789800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr21:44789400-44790800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr21:44789400-44791000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr21:44789400-44791000	Enhancers	Fetal Stomach	stomach
47	chr21:44789400-44791800	Enhancers	Fetal Thymus	thymus
48	chr21:44789600-44789800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
49	chr21:44789600-44790200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr21:44789600-44790200	Flanking Active TSS	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links