Variant report

Variant	rs750142
Chromosome Location	chr14:21130632-21130633
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21129167..21132720-chr14:21149519..21152893,4	K562	blood:
2	chr14:21129332..21131936-chr14:21137760..21140289,2	K562	blood:
3	chr14:21125934..21128053-chr14:21129336..21131383,3	MCF-7	breast:
4	chr14:21109937..21112443-chr14:21129612..21132538,2	MCF-7	breast:
5	chr14:21127873..21132994-chr14:21148256..21153568,11	MCF-7	breast:
6	chr14:21123860..21132198-chr14:21147469..21155122,16	MCF-7	breast:
7	chr14:21130390..21131789-chr14:21158846..21159942,12	MCF-7	breast:
8	chr14:21121488..21124008-chr14:21129043..21130798,2	MCF-7	breast:
9	chr14:20796558..20799354-chr14:21129260..21130804,2	K562	blood:
10	chr14:21129167..21131759-chr14:21149519..21152893,3	K562	blood:
11	chr14:21120340..21122109-chr14:21128669..21130838,2	K562	blood:
12	chr14:21130554..21132780-chr14:21135221..21137012,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000259171	Chromatin interaction
ENSG00000100814	Chromatin interaction
ENSG00000214274	Chromatin interaction
ENSG00000199461	Chromatin interaction
ENSG00000258818	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10498272	0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs12431961	0.85[CHD][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs12433933	0.81[CHD][hapmap];0.93[JPT][hapmap]
rs59621901	0.80[ASN][1000 genomes]
rs6571333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7154376	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv901468	chr14:20997221-21149785	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1051489	chr14:21026592-21214763	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv1203	chr14:21120868-21166077	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
7	nsv1045004	chr14:21124345-21180397	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv541975	chr14:21124345-21180397	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs750142	TEP1	cis	parietal	SCAN
rs750142	NDRG2	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21125200-21131400	Enhancers	Fetal Intestine Small	intestine
2	chr14:21126000-21131000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:21126000-21131200	Weak transcription	Pancreas	Pancrea
4	chr14:21126000-21131400	Weak transcription	Right Atrium	heart
5	chr14:21126000-21131400	Weak transcription	Spleen	Spleen
6	chr14:21126600-21130800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:21126600-21131400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:21126800-21131000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:21126800-21131000	Weak transcription	A549	lung
10	chr14:21126800-21131200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:21126800-21131400	Weak transcription	Gastric	stomach
12	chr14:21127800-21131000	Enhancers	HepG2	liver
13	chr14:21129000-21131200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:21129000-21131400	Enhancers	Fetal Intestine Large	intestine
15	chr14:21129200-21131200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:21129400-21131400	Weak transcription	HMEC	breast
17	chr14:21130200-21130800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr14:21130600-21131000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr14:21130600-21131000	Weak transcription	GM12878-XiMat	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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