Variant report

Variant	rs7283084
Chromosome Location	chr21:46102015-46102016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr21:46101847-46102080	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46101993-46102043	HL-60	blood:	n/a
2	chr21:46101993-46102043	ovcar-3	ovarian:	n/a
3	chr21:46101993-46102043	Jurkat	blood:	n/a
4	chr21:46101993-46102043	IMR90	lung:	fetal
5	chr21:46101993-46102043	HRPEpiC	eye:	n/a
6	chr21:46101993-46102043	H1-hESC	embryonic stem cell:	embryo
7	chr21:46101993-46102043	HCM	heart:	n/a
8	chr21:46101993-46102043	HAEpiC	amniotic membrane:	n/a
9	chr21:46101993-46102043	HUVEC	blood vessel:	n/a
10	chr21:46101993-46102043	HMEC	breast:	n/a
11	chr21:46101993-46102043	SKMC	muscle:	n/a
12	chr21:46101993-46102043	SK-N-SH_RA	brain:	n/a
13	chr21:46101993-46102043	SK-N-MC	brain:	n/a
14	chr21:46101993-46102043	ECC-1	luminal epithelium:	n/a
15	chr21:46101993-46102043	AG04450	lung:	fetal
16	chr21:46101993-46102043	AG09309	skin:	n/a
17	chr21:46101993-46102043	NHDF-neo	bronchial:	n/a
18	chr21:46101993-46102043	PrEC	prostate:	n/a
19	chr21:46101993-46102043	T-47D	breast:	n/a
20	chr21:46101993-46102043	CMK	blood:	n/a
21	chr21:46101993-46102043	HEEpiC	esophagus:	n/a
22	chr21:46101993-46102043	GM12891	blood:	n/a
23	chr21:46101993-46102043	MCF10A-Er-Src	breast:	n/a
24	chr21:46101993-46102043	PFSK-1	brain:	n/a
25	chr21:46101993-46102043	NB4	blood:	n/a
26	chr21:46101993-46102043	RPTEC	kidney:	n/a
27	chr21:46101993-46102043	HNPCEpiC	eye:	n/a
28	chr21:46101993-46102043	HCT-116	colon:	n/a
29	chr21:46101993-46102043	AoSMC	blood vessel:	n/a
30	chr21:46101993-46102043	BJ	skin:	n/a
31	chr21:46101993-46102043	K562	blood:	n/a
32	chr21:46101993-46102043	AG04449	skin:	fetal
33	chr21:46101993-46102043	U87	brain:	n/a
34	chr21:46101993-46102043	SAEC	small airway:	n/a
35	chr21:46101993-46102043	BE2_C	brain:	n/a
36	chr21:46101993-46102043	Hela-S3	cervix:	n/a
37	chr21:46101993-46102043	GM19239	blood:	n/a
38	chr21:46101993-46102043	AG09319	gingival:	n/a
39	chr21:46101993-46102043	GM12878	blood:	n/a
40	chr21:46101993-46102043	Hepatocyte	liver:	n/a
41	chr21:46101993-46102043	A549	lung:	n/a
42	chr21:46101993-46102043	GM06990	blood:	n/a
43	chr21:46101993-46102043	SK-N-SH	brain:	n/a
44	chr21:46101993-46102043	GM12892	blood:	n/a
45	chr21:46101993-46102043	HRE	kidney:	n/a
46	chr21:46101993-46102043	HRCEpiC	kidney:	n/a
47	chr21:46101993-46102043	LNCaP	prostate:	n/a
48	chr21:46101993-46102043	HIPEpiC	eye:	n/a
49	chr21:46101993-46102043	MCF-7	breast:	n/a
50	chr21:46101993-46102043	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46096720..46098322-chr21:46101281..46103143,2	K562	blood:

No data

Variant related genes	Relation type
IMMTP1	TF binding region
IMMTP1	CpG island
ENSG00000229880	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11909180	0.96[ASN][1000 genomes]
rs12481809	0.82[ASN][1000 genomes]
rs12483730	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2243667	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2838615	0.86[CHB][hapmap];0.92[CHD][hapmap]
rs2838616	0.86[CHB][hapmap];0.92[CHD][hapmap]
rs2838626	0.93[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838630	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838639	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2838645	0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2838649	0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2838654	1.00[JPT][hapmap]
rs28796990	0.81[ASN][1000 genomes]
rs28797484	0.98[ASN][1000 genomes]
rs4818729	0.81[ASN][1000 genomes]
rs4818956	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs55914221	0.82[ASN][1000 genomes]
rs56829302	0.90[ASN][1000 genomes]
rs60154040	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60327918	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60681728	0.96[ASN][1000 genomes]
rs647688	0.85[CHB][hapmap]
rs690279	0.85[CHB][hapmap]
rs690621	0.85[CHB][hapmap]
rs7283406	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8132905	0.98[ASN][1000 genomes]
rs8133996	1.00[JPT][hapmap]
rs9637188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974365	0.82[ASN][1000 genomes]
rs9975249	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9976987	0.81[GIH][hapmap]
rs9978932	1.00[JPT][hapmap]
rs9979168	0.81[ASN][1000 genomes]
rs9980087	0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9981523	0.98[ASN][1000 genomes]
rs9981573	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9981618	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9982002	0.96[ASN][1000 genomes]
rs9984476	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers 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	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46094200-46106800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:46098200-46104600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46101000-46122200	Weak transcription	Right Atrium	heart
4	chr21:46101800-46102200	Enhancers	Fetal Brain Male	brain
5	chr21:46102000-46102800	Bivalent Enhancer	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links