Variant report

Variant	rs28680827
Chromosome Location	chr14:39698296-39698297
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	NFIC	chr14:39698237-39698821	GM12878	blood:	n/a	n/a
2	ZNF384	chr14:39698196-39698471	K562	blood:	n/a	n/a
3	SPI1	chr14:39698285-39698776	GM12891	blood:	n/a	n/a

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

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

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10131617	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10134143	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10134365	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10151659	0.86[ASN][1000 genomes]
rs10162550	0.86[ASN][1000 genomes]
rs11621264	0.82[ASN][1000 genomes]
rs11621822	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11626150	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11627580	0.86[ASN][1000 genomes]
rs11628075	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11845046	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12587713	0.86[ASN][1000 genomes]
rs12588728	0.83[ASN][1000 genomes]
rs12589831	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12882709	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12892482	0.82[ASN][1000 genomes]
rs12894960	0.92[ASN][1000 genomes]
rs1594842	0.86[ASN][1000 genomes]
rs17109021	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17109028	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17109056	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109073	0.86[ASN][1000 genomes]
rs1897792	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1998194	0.85[ASN][1000 genomes]
rs28626340	0.85[ASN][1000 genomes]
rs35065854	0.81[ASN][1000 genomes]
rs35184650	0.86[ASN][1000 genomes]
rs35201135	0.86[ASN][1000 genomes]
rs35613410	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35627131	0.84[ASN][1000 genomes]
rs35691623	0.82[ASN][1000 genomes]
rs7143646	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7150735	0.82[ASN][1000 genomes]
rs8004348	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:22 , 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	chr14:39696400-39698800	Enhancers	Fetal Intestine Large	intestine
3	chr14:39696600-39699200	Enhancers	Fetal Intestine Small	intestine
4	chr14:39696600-39700600	Enhancers	HepG2	liver
5	chr14:39696800-39702400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr14:39697000-39702600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:39697200-39699000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:39697200-39699400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:39697200-39699400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr14:39697200-39699400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr14:39697200-39699400	Enhancers	NH-A	brain
12	chr14:39697200-39701200	Enhancers	K562	blood
13	chr14:39697400-39699000	Enhancers	Primary T cells from cord blood	blood
14	chr14:39697400-39699400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr14:39697400-39699400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr14:39697400-39699400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr14:39697600-39699200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr14:39697600-39699200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:39697600-39699200	Enhancers	NHEK	skin
20	chr14:39697600-39699800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:39698000-39699000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:39698200-39702000	Weak transcription	Stomach Mucosa	stomach

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