Variant report

Variant	rs2181180
Chromosome Location	chr14:38066548-38066549
allele	C/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	POLR2A	chr14:38062953-38066652	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr14:38063297-38066604	HepG2	liver:	n/a	n/a
3	SUZ12	chr14:38066159-38069589	NT2-D1	testis:	n/a	n/a
4	GATA3	chr14:38063135-38066665	MCF-7	breast:	n/a	chr14:38066429-38066436
5	HDAC2	chr14:38063100-38067230	MCF-7	breast:	n/a	chr14:38066217-38066231 chr14:38064284-38064293 chr14:38066216-38066230 chr14:38063289-38063303 chr14:38063290-38063304 chr14:38066214-38066228 chr14:38066207-38066221 chr14:38066181-38066195 chr14:38064764-38064778 chr14:38065036-38065050 chr14:38066212-38066226 chr14:38066211-38066225 chr14:38066176-38066190 chr14:38066215-38066229 chr14:38065033-38065047 chr14:38066213-38066227 chr14:38065035-38065049 chr14:38064765-38064779 chr14:38066210-38066224
6	CTCF	chr14:38066480-38066630	NHLF	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:38065586..38067163-chr17:59765221..59767860,2	MCF-7	breast:
2	chr14:38065477..38068089-chr14:38070439..38072783,2	K562	blood:
3	chr14:38066098..38067746-chr16:30886029..30887943,2	MCF-7	breast:
4	chr14:38065961..38068630-chr14:38077390..38079134,2	K562	blood:
5	chr14:38064575..38066712-chr14:38067823..38069498,2	K562	blood:
6	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:
7	chr14:38065742..38067399-chr6:13813681..13815787,2	MCF-7	breast:
8	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
9	chr14:38065415..38067137-chr5:156264279..156265799,2	MCF-7	breast:
10	chr14:38032780..38033613-chr14:38066475..38067257,2	MCF-7	breast:
11	chr14:37667184..37668809-chr14:38065579..38068114,2	MCF-7	breast:
12	chr14:37641087..37642667-chr14:38063502..38066629,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC25A21-2	chr14:38066369-38066939	XLOC_010998

Variant related genes	Relation type
FOXA1	TF binding region
ENSG00000265991	Chromatin interaction
ENSG00000050393	Chromatin interaction
ENSG00000183032	Chromatin interaction
ENSG00000258708	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000151338	Chromatin interaction
ENSG00000258414	Chromatin interaction
ENSG00000129514	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12587630	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34249416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742595	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4898647	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59255463	0.83[EUR][1000 genomes]
rs59290731	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72674251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911822	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv826923	chr14:38017619-38108645	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv832772	chr14:38030300-38225921	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv901642	chr14:38041870-38081005	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv901643	chr14:38047789-38081005	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv901646	chr14:38051035-38081005	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38064800-38066800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
2	chr14:38065000-38066800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:38065000-38069600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr14:38065200-38066800	Bivalent/Poised TSS	Fetal Stomach	stomach
5	chr14:38065600-38066600	Flanking Active TSS	A549	lung
6	chr14:38065600-38067000	Weak transcription	Lung	lung
7	chr14:38065600-38067000	Weak transcription	Pancreas	Pancrea
8	chr14:38065800-38066600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr14:38065800-38066600	Flanking Active TSS	HepG2	liver
10	chr14:38065800-38066800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
11	chr14:38065800-38067000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:38065800-38067000	Weak transcription	Esophagus	oesophagus
13	chr14:38065800-38067200	Weak transcription	Gastric	stomach
14	chr14:38065800-38067600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr14:38065800-38068800	Bivalent Enhancer	HMEC	breast
16	chr14:38066000-38066600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
17	chr14:38066000-38068600	Enhancers	Liver	Liver
18	chr14:38066200-38066600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
19	chr14:38066200-38066600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
20	chr14:38066400-38066600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:38066400-38066600	Bivalent Enhancer	Stomach Mucosa	stomach
22	chr14:38066400-38067400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine

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