Variant report

Variant	rs218639
Chromosome Location	chr21:37801622-37801623
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr21:37801232-37803483	K562	blood:	n/a	n/a
2	ELF1	chr21:37801491-37801814	K562	blood:	n/a	chr21:37801665-37801676
3	POLR2A	chr21:37800859-37804355	IMR90	lung:	n/a	n/a
4	POLR2A	chr21:37801053-37801911	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr21:37801560-37801710	HCPEpiC	choroid plexus:	n/a	n/a
6	POLR2A	chr21:37801603-37801998	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr21:37801480-37801630	HEK293	kidney:	n/a	n/a
8	POLR2A	chr21:37800855-37804481	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr21:37800978-37803860	PBDE	blood:	n/a	n/a
10	POLR2A	chr21:37800813-37807401	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr21:37801600-37801750	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr21:37801520-37801670	HEK293	kidney:	n/a	n/a
13	POLR2A	chr21:37800949-37801758	A549	lung:	n/a	n/a
14	CTCF	chr21:37801520-37801670	HBMEC	blood vessel:	n/a	n/a
15	POLR2A	chr21:37800817-37804467	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr21:37801580-37801730	HCFaa	heart:	n/a	n/a
17	CTCF	chr21:37801620-37801674	K562	blood:	n/a	n/a
18	JUN	chr21:37801051-37803489	K562	blood:	n/a	chr21:37802421-37802428 chr21:37802420-37802428 chr21:37802607-37802618 chr21:37802419-37802429 chr21:37802416-37802427 chr21:37802608-37802616 chr21:37802419-37802429 chr21:37802420-37802428
19	CTCF	chr21:37801540-37801690	HCPEpiC	choroid plexus:	n/a	n/a
20	BHLHE40	chr21:37801534-37803245	K562	blood:	n/a	n/a
21	POLR2A	chr21:37800856-37804688	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr21:37801540-37801690	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr21:37801480-37801630	HepG2	liver:	n/a	n/a
24	CTCF	chr21:37801520-37801670	RPTEC	kidney:	n/a	n/a
25	POLR2A	chr21:37801345-37801715	K562	blood:	n/a	n/a
26	MAX	chr21:37801581-37803330	A549	lung:	n/a	n/a
27	POLR2A	chr21:37801186-37803263	Hela-S3	cervix:	n/a	n/a
28	NFIC	chr21:37800975-37801691	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr21:37801215-37801670	K562	blood:	n/a	n/a
30	POLR2A	chr21:37800817-37804446	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37801129..37804550-chr21:37848189..37852893,8	MCF-7	breast:
2	chr21:37800788..37802502-chr21:37923063..37924885,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230479	TF binding region
ENSG00000159261	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1076836	1.00[JPT][hapmap]
rs170141	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218634	1.00[JPT][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1064194	chr21:37782214-37819820	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37775600-37802200	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr21:37787200-37803200	Weak transcription	Esophagus	oesophagus
3	chr21:37788800-37801800	Weak transcription	GM12878-XiMat	blood
4	chr21:37788800-37802000	Weak transcription	Gastric	stomach
5	chr21:37789000-37802200	Weak transcription	Primary T cells from cord blood	blood
6	chr21:37790200-37802600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:37790800-37802000	Weak transcription	Fetal Intestine Small	intestine
8	chr21:37790800-37806600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr21:37793200-37802200	Weak transcription	Thymus	Thymus
10	chr21:37794800-37802200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr21:37795000-37802200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr21:37795200-37802000	Weak transcription	Right Atrium	heart
13	chr21:37795200-37802200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr21:37795400-37802200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr21:37798000-37802400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:37799200-37802000	Weak transcription	Pancreas	Pancrea
17	chr21:37800600-37803600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr21:37800800-37802000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:37800800-37802200	Enhancers	Fetal Muscle Trunk	muscle
20	chr21:37800800-37802600	Enhancers	Primary hematopoietic stem cells	blood
21	chr21:37800800-37802800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:37800800-37806200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:37801000-37801800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr21:37801000-37802000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:37801000-37802000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:37801000-37802000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr21:37801000-37802000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr21:37801000-37802000	Enhancers	HMEC	breast
29	chr21:37801000-37802000	Enhancers	K562	blood
30	chr21:37801000-37802200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr21:37801000-37802200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr21:37801000-37802200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr21:37801000-37802400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr21:37801000-37803400	Enhancers	Spleen	Spleen
35	chr21:37801200-37801800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr21:37801200-37801800	Enhancers	Psoas Muscle	Psoas
37	chr21:37801200-37801800	Flanking Active TSS	A549	lung
38	chr21:37801200-37801800	Bivalent Enhancer	HepG2	liver
39	chr21:37801200-37802000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr21:37801200-37802000	Enhancers	Lung	lung
41	chr21:37801200-37802000	Enhancers	Osteobl	bone
42	chr21:37801200-37802200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr21:37801200-37802400	Enhancers	Fetal Muscle Leg	muscle
44	chr21:37801200-37802400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr21:37801200-37802600	Enhancers	Left Ventricle	heart
46	chr21:37801200-37802600	Enhancers	Right Ventricle	heart
47	chr21:37801200-37802600	Enhancers	NHEK	skin
48	chr21:37801200-37803800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr21:37801400-37801800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr21:37801400-37802000	Weak transcription	Placenta Amnion	Placenta Amnion

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