Variant report

Variant	rs55835776
Chromosome Location	chr21:46391109-46391110
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr21:46391049-46391290	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr21:46390215-46391172	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr21:46389646-46391520	K562	blood:	n/a	n/a
4	POLR2A	chr21:46390443-46391260	K562	blood:	n/a	n/a
5	POLR2A	chr21:46390901-46391261	K562	blood:	n/a	n/a
6	POLR2A	chr21:46390807-46391161	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
2	chr21:46360355..46363434-chr21:46390613..46392494,3	K562	blood:
3	chr21:46389652..46391762-chr21:46403635..46406291,3	K562	blood:
4	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
5	chr21:46389436..46392310-chr21:46403984..46406454,4	MCF-7	breast:
6	chr21:46383415..46387138-chr21:46387996..46392405,6	MCF-7	breast:
7	chr21:46368238..46371642-chr21:46387685..46392289,4	MCF-7	breast:
8	chr21:46389981..46391498-chr21:46393886..46395996,2	MCF-7	breast:
9	chr21:46388304..46391941-chr21:46405140..46408230,3	MCF-7	breast:
10	chr21:46359964..46363434-chr21:46389610..46392494,4	K562	blood:
11	chr21:46387514..46391451-chr21:46403174..46406984,4	K562	blood:

No data

Variant related genes	Relation type
FAM207A	TF binding region
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs2838748	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs421557	0.93[AMR][1000 genomes]
rs55633511	1.00[AMR][1000 genomes]
rs55637516	0.93[AMR][1000 genomes]
rs55705724	1.00[AMR][1000 genomes]
rs55775492	1.00[AMR][1000 genomes]
rs55989453	1.00[AMR][1000 genomes]
rs57677709	1.00[AMR][1000 genomes]
rs57835164	1.00[AMR][1000 genomes]
rs58929845	1.00[AMR][1000 genomes]
rs58951027	1.00[AMR][1000 genomes]
rs59163354	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59226008	1.00[AMR][1000 genomes]
rs59267673	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59573927	1.00[AMR][1000 genomes]
rs59586139	1.00[AMR][1000 genomes]
rs60725487	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61018933	0.86[AMR][1000 genomes]
rs61674083	0.86[AMR][1000 genomes]
rs7276874	1.00[AMR][1000 genomes]
rs7278617	1.00[AMR][1000 genomes]
rs7279913	0.85[AMR][1000 genomes]
rs7283630	1.00[AMR][1000 genomes]
rs7283920	1.00[AMR][1000 genomes]
rs73906974	0.82[AFR][1000 genomes]
rs73906981	1.00[AMR][1000 genomes]
rs73906983	1.00[AMR][1000 genomes]
rs73906984	0.93[AMR][1000 genomes]
rs73906985	0.86[AMR][1000 genomes]
rs73907002	1.00[AMR][1000 genomes]
rs73907203	0.85[AMR][1000 genomes]
rs73909903	1.00[AMR][1000 genomes]
rs73909905	1.00[AMR][1000 genomes]
rs73909911	0.86[AMR][1000 genomes]
rs8130435	1.00[AMR][1000 genomes]
rs8133480	0.85[AMR][1000 genomes]
rs8134093	0.85[AMR][1000 genomes]
rs879479	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
9	nsv1064518	chr21:46317690-46413159	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913981	chr21:46344426-46408790	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv913982	chr21:46344426-46430792	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv913984	chr21:46344426-46435610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv913983	chr21:46344426-46440385	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv913985	chr21:46344426-46448142	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	nsv913988	chr21:46356816-46408790	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv913989	chr21:46356816-46430792	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
23	nsv913990	chr21:46356816-46448142	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
24	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
25	nsv544480	chr21:46364856-46413159	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	nsv913992	chr21:46366547-46408790	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
27	nsv913993	chr21:46376528-46448142	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	13 gene(s)	inside rSNPs	diseases
28	nsv913994	chr21:46376528-46454391	Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
29	nsv913995	chr21:46376528-46466674	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	nsv913996	chr21:46383941-46459432	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
31	nsv913997	chr21:46383941-46472929	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46364200-46391400	Strong transcription	Dnd41	blood
2	chr21:46380000-46396600	Weak transcription	Brain Substantia Nigra	brain
3	chr21:46380200-46402600	Weak transcription	Aorta	Aorta
4	chr21:46381200-46391200	Enhancers	Fetal Heart	heart
5	chr21:46381200-46396400	Weak transcription	Psoas Muscle	Psoas
6	chr21:46382800-46404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:46384200-46391200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr21:46384200-46391400	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr21:46384200-46399600	Strong transcription	Fetal Intestine Small	intestine
10	chr21:46385000-46393200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:46385000-46401400	Strong transcription	Thymus	Thymus
12	chr21:46385200-46393000	Genic enhancers	Fetal Muscle Leg	muscle
13	chr21:46385400-46393000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr21:46385400-46393800	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr21:46385800-46393000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:46386200-46391200	Genic enhancers	Fetal Stomach	stomach
17	chr21:46386200-46393200	Genic enhancers	Spleen	Spleen
18	chr21:46386400-46392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:46386400-46400600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr21:46386600-46391200	Genic enhancers	Lung	lung
21	chr21:46386800-46400600	Weak transcription	Small Intestine	intestine
22	chr21:46387000-46391200	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr21:46387600-46391200	Weak transcription	Fetal Brain Male	brain
24	chr21:46387600-46396000	Strong transcription	Pancreas	Pancrea
25	chr21:46387800-46392600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:46387800-46397800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr21:46387800-46399000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr21:46388400-46393600	Weak transcription	Fetal Brain Female	brain
29	chr21:46388600-46391400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr21:46388600-46394600	Weak transcription	Liver	Liver
31	chr21:46388600-46396800	Weak transcription	Brain Hippocampus Middle	brain
32	chr21:46388600-46397600	Weak transcription	NHEK	skin
33	chr21:46388600-46398200	Strong transcription	Gastric	stomach
34	chr21:46388600-46398400	Weak transcription	Brain Angular Gyrus	brain
35	chr21:46388600-46399800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr21:46388800-46391400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr21:46389200-46391200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr21:46389200-46391200	Strong transcription	Esophagus	oesophagus
39	chr21:46389400-46393000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
40	chr21:46389400-46393000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr21:46389600-46391200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr21:46389800-46391200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr21:46389800-46391200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
44	chr21:46390000-46391200	Enhancers	Left Ventricle	heart
45	chr21:46390000-46391600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr21:46390000-46392400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr21:46390000-46392400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr21:46390000-46392400	Weak transcription	HepG2	liver
49	chr21:46390000-46392400	Weak transcription	K562	blood
50	chr21:46390000-46392600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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