Variant report

Variant	rs73275062
Chromosome Location	chr14:39698947-39698948
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	FOXA1	chr14:39698864-39699150	HepG2	liver:	n/a	chr14:39698875-39698887
2	TAL1	chr14:39698945-39699295	K562	blood:	n/a	n/a
3	TEAD4	chr14:39698946-39699249	K562	blood:	n/a	n/a
4	EP300	chr14:39698903-39699264	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39642562..39645375-chr14:39698449..39701112,2	MCF-7	breast:
2	chr14:39638891..39641141-chr14:39697742..39700523,2	MCF-7	breast:

Variant related genes	Relation type
MIA2	TF binding region
ENSG00000258941	TF binding region
ENSG00000182400	Chromatin interaction
ENSG00000100941	Chromatin interaction
ENSG00000259083	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs17109188	1.00[AMR][1000 genomes]
rs17109213	1.00[AMR][1000 genomes]
rs17109227	1.00[AMR][1000 genomes]
rs34909359	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56859252	1.00[AMR][1000 genomes]
rs57566573	1.00[AMR][1000 genomes]
rs57917331	0.92[AFR][1000 genomes]
rs58371839	1.00[AMR][1000 genomes]
rs59371684	1.00[AMR][1000 genomes]
rs59546917	1.00[AMR][1000 genomes]
rs59597680	1.00[AMR][1000 genomes]
rs59919221	1.00[AMR][1000 genomes]
rs59953702	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60367463	1.00[AMR][1000 genomes]
rs60921042	1.00[AMR][1000 genomes]
rs61176483	1.00[AMR][1000 genomes]
rs61549948	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61668966	1.00[AMR][1000 genomes]
rs7148519	1.00[AMR][1000 genomes]
rs73275040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275059	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275075	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275076	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277428	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277432	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277440	1.00[AMR][1000 genomes]
rs73277451	1.00[AMR][1000 genomes]
rs73277466	1.00[AMR][1000 genomes]
rs73277467	1.00[AMR][1000 genomes]
rs73277471	1.00[AMR][1000 genomes]
rs73277473	1.00[AMR][1000 genomes]
rs73277474	1.00[AMR][1000 genomes]
rs73277475	1.00[AMR][1000 genomes]
rs73277478	1.00[AMR][1000 genomes]
rs73277496	1.00[AMR][1000 genomes]
rs73277499	1.00[AMR][1000 genomes]
rs73277501	1.00[AMR][1000 genomes]
rs73279309	1.00[AMR][1000 genomes]
rs73279392	1.00[AMR][1000 genomes]
rs73283432	1.00[AMR][1000 genomes]
rs73283442	1.00[AMR][1000 genomes]
rs73283453	1.00[AMR][1000 genomes]
rs73285541	1.00[AMR][1000 genomes]
rs73285564	1.00[AMR][1000 genomes]
rs73285569	1.00[AMR][1000 genomes]
rs73285591	1.00[AMR][1000 genomes]
rs73285598	1.00[AMR][1000 genomes]
rs73285599	1.00[AMR][1000 genomes]
rs73285749	1.00[AMR][1000 genomes]
rs73285766	1.00[AMR][1000 genomes]
rs73285774	1.00[AMR][1000 genomes]
rs73287662	1.00[AMR][1000 genomes]
rs73291562	1.00[AMR][1000 genomes]
rs73291565	1.00[AMR][1000 genomes]
rs73291581	1.00[AMR][1000 genomes]
rs73291596	1.00[AMR][1000 genomes]
rs73291598	1.00[AMR][1000 genomes]
rs73293309	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1246	chr14:39656597-39701520	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv84871	chr14:39698400-39707997	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39674000-39705400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:39696600-39699200	Enhancers	Fetal Intestine Small	intestine
3	chr14:39696600-39700600	Enhancers	HepG2	liver
4	chr14:39696800-39702400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr14:39697000-39702600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:39697200-39699000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:39697200-39699400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:39697200-39699400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr14:39697200-39699400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr14:39697200-39699400	Enhancers	NH-A	brain
11	chr14:39697200-39701200	Enhancers	K562	blood
12	chr14:39697400-39699000	Enhancers	Primary T cells from cord blood	blood
13	chr14:39697400-39699400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr14:39697400-39699400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr14:39697400-39699400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr14:39697600-39699200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr14:39697600-39699200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:39697600-39699200	Enhancers	NHEK	skin
19	chr14:39697600-39699800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:39698000-39699000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:39698200-39702000	Weak transcription	Stomach Mucosa	stomach
22	chr14:39698800-39699000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr14:39698800-39699200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:39698800-39700800	Weak transcription	A549	lung
25	chr14:39698800-39701000	Weak transcription	Fetal Intestine Large	intestine
26	chr14:39698800-39702200	Weak transcription	Osteobl	bone

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