Variant report

Variant	rs10149080
Chromosome Location	chr14:55356394-55356395
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	SPI1	chr14:55356390-55356684	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55351116..55353467-chr14:55355068..55357626,2	MCF-7	breast:

Variant related genes	Relation type
FDPSP3	TF binding region
ENSG00000258872	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10132356	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133661	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134429	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134647	1.00[AMR][1000 genomes]
rs10137504	1.00[AMR][1000 genomes]
rs10137881	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs10141456	0.84[AFR][1000 genomes]
rs10144581	1.00[AMR][1000 genomes]
rs10145816	1.00[AMR][1000 genomes]
rs10149945	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150556	1.00[AMR][1000 genomes]
rs10220342	1.00[AMR][1000 genomes]
rs11844799	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17128033	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28491418	1.00[AMR][1000 genomes]
rs28643468	1.00[AMR][1000 genomes]
rs28662314	1.00[AMR][1000 genomes]
rs28706216	1.00[AMR][1000 genomes]
rs28719471	1.00[AMR][1000 genomes]
rs9323273	1.00[AMR][1000 genomes]
rs9323274	1.00[AMR][1000 genomes]
rs9972204	0.84[AFR][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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55345400-55368200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:55348400-55368200	Weak transcription	Gastric	stomach
3	chr14:55349000-55366400	Weak transcription	Hela-S3	cervix
4	chr14:55349200-55357800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:55349200-55358400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:55349200-55367400	Weak transcription	Fetal Intestine Large	intestine
7	chr14:55349200-55367400	Weak transcription	Thymus	Thymus
8	chr14:55349400-55356400	Weak transcription	Fetal Intestine Small	intestine
9	chr14:55349400-55367800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:55349600-55367200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:55349600-55368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:55350000-55366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr14:55352800-55358200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:55353600-55365800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:55353800-55357600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:55353800-55358200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:55354000-55367200	Weak transcription	Primary T cells from cord blood	blood
18	chr14:55354200-55357200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr14:55354600-55356400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:55354600-55357000	Enhancers	NHEK	skin
21	chr14:55354800-55356800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr14:55354800-55356800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:55354800-55356800	Enhancers	HepG2	liver
24	chr14:55355000-55356400	Enhancers	Fetal Lung	lung
25	chr14:55355000-55356400	Enhancers	Small Intestine	intestine
26	chr14:55355000-55356800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr14:55355000-55356800	Enhancers	Liver	Liver
28	chr14:55355000-55357400	Enhancers	GM12878-XiMat	blood
29	chr14:55355000-55358400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:55355200-55358400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:55355200-55358400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:55355200-55360400	Weak transcription	HMEC	breast
33	chr14:55355200-55362000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:55355400-55356400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr14:55355600-55359000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr14:55355600-55359400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:55355600-55360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:55355800-55356400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:55355800-55356600	Enhancers	K562	blood
40	chr14:55355800-55356800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr14:55355800-55357000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr14:55355800-55358400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:55355800-55359800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:55356000-55356400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:55356000-55356400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr14:55356000-55356400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr14:55356000-55356400	Enhancers	Lung	lung
48	chr14:55356000-55356600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr14:55356000-55356800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr14:55356000-55358400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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