Variant report

Variant	rs11621822
Chromosome Location	chr14:39699986-39699987
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	FOS	chr14:39699699-39700003	MCF10A-Er-Src	breast:	n/a	n/a
2	FOSL2	chr14:39699630-39700015	HepG2	liver:	n/a	n/a
3	FOS	chr14:39699663-39699989	MCF10A-Er-Src	breast:	n/a	n/a
4	JUND	chr14:39699747-39699990	K562	blood:	n/a	chr14:39699827-39699838

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
ENSG00000259083	Chromatin interaction
ENSG00000100941	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10131617	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10134143	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10134365	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10151659	0.88[ASN][1000 genomes]
rs10162550	0.88[ASN][1000 genomes]
rs11621264	0.83[ASN][1000 genomes]
rs11626150	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11627580	0.88[ASN][1000 genomes]
rs11628075	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11845046	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12587713	0.88[ASN][1000 genomes]
rs12588728	0.84[ASN][1000 genomes]
rs12589831	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12882709	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892482	0.83[ASN][1000 genomes]
rs12894960	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1594842	0.88[ASN][1000 genomes]
rs17109021	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109028	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109056	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17109073	0.88[ASN][1000 genomes]
rs1897792	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998194	0.86[ASN][1000 genomes]
rs28626340	0.86[ASN][1000 genomes]
rs28680827	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35065854	0.83[ASN][1000 genomes]
rs35184650	0.88[ASN][1000 genomes]
rs35201135	0.87[ASN][1000 genomes]
rs35613410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35627131	0.86[ASN][1000 genomes]
rs35691623	0.83[ASN][1000 genomes]
rs7143646	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7150735	0.83[ASN][1000 genomes]
rs8004348	0.82[ASN][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:24 , 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	chr14:39696600-39700600	Enhancers	HepG2	liver
3	chr14:39696800-39702400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr14:39697000-39702600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:39697200-39701200	Enhancers	K562	blood
6	chr14:39698200-39702000	Weak transcription	Stomach Mucosa	stomach
7	chr14:39698800-39700800	Weak transcription	A549	lung
8	chr14:39698800-39701000	Weak transcription	Fetal Intestine Large	intestine
9	chr14:39698800-39702200	Weak transcription	Osteobl	bone
10	chr14:39699000-39700600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:39699000-39702200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:39699200-39700600	Weak transcription	Fetal Intestine Small	intestine
13	chr14:39699200-39702400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:39699200-39702400	Weak transcription	NHEK	skin
15	chr14:39699400-39700600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr14:39699400-39700600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:39699400-39702000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:39699400-39702200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:39699400-39702200	Weak transcription	NH-A	brain
20	chr14:39699400-39702400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:39699400-39703200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:39699800-39700800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:39699800-39702400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:39699800-39702400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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