Variant report

Variant	rs9981510
Chromosome Location	chr21:44902837-44902838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:44902815-44902865	HepG2	liver:	n/a
2	chr21:44902815-44902865	AoSMC	blood vessel:	n/a
3	chr21:44902815-44902865	HCM	heart:	n/a
4	chr21:44902815-44902865	HPAEpiC	pulmonary alveolar:	n/a
5	chr21:44902815-44902865	NHDF-neo	bronchial:	n/a
6	chr21:44902815-44902865	HL-60	blood:	n/a
7	chr21:44902815-44902865	PANC-1	pancreas:	n/a
8	chr21:44902815-44902865	A549	lung:	n/a
9	chr21:44902815-44902865	U87	brain:	n/a
10	chr21:44902815-44902865	AG09309	skin:	n/a
11	chr21:44902815-44902865	ECC-1	luminal epithelium:	n/a
12	chr21:44902815-44902865	HRCEpiC	kidney:	n/a
13	chr21:44902815-44902865	SKMC	muscle:	n/a
14	chr21:44902815-44902865	PFSK-1	brain:	n/a
15	chr21:44902815-44902865	RPTEC	kidney:	n/a
16	chr21:44902815-44902865	GM19239	blood:	n/a
17	chr21:44902815-44902865	HEEpiC	esophagus:	n/a
18	chr21:44902815-44902865	HCT-116	colon:	n/a
19	chr21:44902815-44902865	LNCaP	prostate:	n/a
20	chr21:44902815-44902865	ovcar-3	ovarian:	n/a
21	chr21:44902815-44902865	Hela-S3	cervix:	n/a
22	chr21:44902815-44902865	GM06990	blood:	n/a
23	chr21:44902815-44902865	AG04449	skin:	fetal
24	chr21:44902815-44902865	Caco-2	colon:	n/a
25	chr21:44902815-44902865	NT2-D1	testis:	n/a
26	chr21:44902815-44902865	HNPCEpiC	eye:	n/a
27	chr21:44902815-44902865	HUVEC	blood vessel:	n/a
28	chr21:44902815-44902865	HEK293	kidney:	embryo
29	chr21:44902815-44902865	SK-N-SH_RA	brain:	n/a
30	chr21:44902815-44902865	ProgFib	skin:	n/a
31	chr21:44902815-44902865	IMR90	lung:	fetal
32	chr21:44902815-44902865	NHBE	bronchial:	n/a
33	chr21:44902815-44902865	MCF10A-Er-Src	breast:	n/a
34	chr21:44902815-44902865	PrEC	prostate:	n/a
35	chr21:44902815-44902865	K562	blood:	n/a
36	chr21:44902815-44902865	SK-N-SH	brain:	n/a
37	chr21:44902815-44902865	Hepatocyte	liver:	n/a
38	chr21:44902815-44902865	Jurkat	blood:	n/a
39	chr21:44902815-44902865	HRE	kidney:	n/a
40	chr21:44902815-44902865	AG09319	gingival:	n/a
41	chr21:44902815-44902865	NH-A	brain:	n/a
42	chr21:44902815-44902865	SAEC	small airway:	n/a
43	chr21:44902815-44902865	HCF	heart:	n/a
44	chr21:44902815-44902865	BE2_C	brain:	n/a
45	chr21:44902815-44902865	T-47D	breast:	n/a
46	chr21:44902815-44902865	HCPEpiC	choroid plexus:	n/a
47	chr21:44902815-44902865	MCF-7	breast:	n/a
48	chr21:44902815-44902865	HMEC	breast:	n/a
49	chr21:44902815-44902865	HIPEpiC	eye:	n/a
50	chr21:44902815-44902865	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:44897384..44899961-chr21:44902370..44905328,3	K562	blood:

No data

Variant related genes	Relation type
LINC00313	CpG island
ENSG00000185186	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17004561	0.85[AFR][1000 genomes]
rs17004562	0.85[AFR][1000 genomes]
rs17004563	1.00[AFR][1000 genomes]
rs17004567	0.85[AFR][1000 genomes]
rs17004568	0.85[AFR][1000 genomes]
rs17004569	0.91[AFR][1000 genomes]
rs28548333	0.91[AFR][1000 genomes]
rs28569783	0.85[AFR][1000 genomes]
rs28796434	0.85[AFR][1000 genomes]
rs8133655	0.85[AFR][1000 genomes]
rs9976485	1.00[AFR][1000 genomes]
rs9980031	1.00[AFR][1000 genomes]
rs9980407	0.91[AFR][1000 genomes]
rs9983070	1.00[AFR][1000 genomes]
rs9984553	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
7	nsv913849	chr21:44817248-44925334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
8	nsv913852	chr21:44829087-44925334	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
9	nsv913860	chr21:44831981-44925334	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS 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	95 gene(s)	inside rSNPs	diseases
10	nsv913867	chr21:44835508-44925334	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
11	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
12	nsv913872	chr21:44860542-44925334	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
13	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
14	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
15	nsv587689	chr21:44884252-44986050	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
16	nsv1061369	chr21:44886596-44931388	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv544468	chr21:44886596-44931388	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv1059264	chr21:44895863-44944515	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44894600-44905400	Weak transcription	HSMMtube	muscle
2	chr21:44898000-44905400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr21:44898200-44905800	Weak transcription	HSMM	muscle
4	chr21:44898800-44907600	Weak transcription	NHEK	skin
5	chr21:44899000-44905800	Weak transcription	Esophagus	oesophagus
6	chr21:44899000-44913400	Weak transcription	Right Atrium	heart
7	chr21:44899200-44905600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:44899200-44905600	Weak transcription	Gastric	stomach
9	chr21:44899400-44903000	Weak transcription	Liver	Liver
10	chr21:44899600-44905800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:44899600-44906000	Weak transcription	HMEC	breast
12	chr21:44900400-44913800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:44900600-44904800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr21:44901000-44903200	Weak transcription	HepG2	liver
15	chr21:44901600-44905000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:44902000-44904000	Enhancers	Hela-S3	cervix
17	chr21:44902600-44905600	Weak transcription	A549	lung
18	chr21:44902600-44906400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:44902600-44907600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:44902800-44905800	Weak transcription	Placenta Amnion	Placenta Amnion

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