Variant report

Variant	rs34544088
Chromosome Location	chr14:55357502-55357503
allele	A/G
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	NFATC1	chr14:55357449-55357873	GM12878	blood:	n/a	n/a
2	PAX5	chr14:55357454-55357965	GM12878	blood:	n/a	n/a
3	MEF2A	chr14:55357476-55357922	GM12878	blood:	n/a	n/a
4	MTA3	chr14:55357311-55357943	GM12878	blood:	n/a	n/a
5	NFIC	chr14:55357383-55357970	GM12878	blood:	n/a	n/a
6	SPI1	chr14:55357407-55358077	GM12878	blood:	n/a	n/a
7	MEF2A	chr14:55357490-55357961	GM12878	blood:	n/a	n/a
8	MAZ	chr14:55357493-55357503	HepG2	liver:	n/a	n/a
9	SPI1	chr14:55357483-55357934	GM12891	blood:	n/a	n/a
10	ATF2	chr14:55357500-55357895	GM12878	blood:	n/a	n/a
11	NFIC	chr14:55357350-55357996	GM12878	blood:	n/a	n/a
12	RUNX3	chr14:55357406-55357906	GM12878	blood:	n/a	n/a
13	ATF2	chr14:55357365-55357948	GM12878	blood:	n/a	n/a
14	CEBPB	chr14:55357349-55358011	GM12878	blood:	n/a	n/a
15	FOXM1	chr14:55357478-55357944	GM12878	blood:	n/a	n/a
16	BATF	chr14:55357487-55357962	GM12878	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: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10143038	0.86[EUR][1000 genomes]
rs10149103	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1107961	0.85[EUR][1000 genomes]
rs11158028	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11621165	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11621177	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11626210	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11626396	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11847771	0.88[EUR][1000 genomes]
rs11852045	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17128052	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759662	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3759663	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3759664	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783639	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783641	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55751189	0.87[EUR][1000 genomes]
rs56013432	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56213135	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57095876	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58293795	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60258834	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61709472	0.87[EUR][1000 genomes]
rs67620272	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7147201	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72713477	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713482	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72715547	0.86[EUR][1000 genomes]
rs72715552	0.81[EUR][1000 genomes]
rs8006363	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8007267	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8008858	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8010570	0.85[EUR][1000 genomes]
rs8011358	0.87[EUR][1000 genomes]
rs8017210	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8018688	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8020798	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8022453	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs943913	0.86[EUR][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:52 , 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	chr14:55349400-55367800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:55349600-55367200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:55349600-55368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:55350000-55366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr14:55352800-55358200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:55353600-55365800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr14:55353800-55357600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:55353800-55358200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:55354000-55367200	Weak transcription	Primary T cells from cord blood	blood
17	chr14:55355000-55358400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:55355200-55358400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:55355200-55358400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:55355200-55360400	Weak transcription	HMEC	breast
21	chr14:55355200-55362000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:55355600-55359000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr14:55355600-55359400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:55355600-55360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:55355800-55358400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:55355800-55359800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:55356000-55358400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:55356000-55362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:55356000-55362000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:55356000-55362000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:55356000-55362600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:55356000-55368000	Weak transcription	Spleen	Spleen
33	chr14:55356200-55358400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:55356400-55358600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr14:55356400-55362200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:55356400-55362400	Weak transcription	Lung	lung
37	chr14:55356400-55365600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:55356400-55368000	Weak transcription	Small Intestine	intestine
39	chr14:55356600-55358400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr14:55356600-55367800	Weak transcription	K562	blood
41	chr14:55356800-55358200	Weak transcription	Liver	Liver
42	chr14:55356800-55358400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:55356800-55360000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr14:55356800-55360000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr14:55356800-55360200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:55356800-55364200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr14:55356800-55365400	Weak transcription	Fetal Intestine Small	intestine
48	chr14:55357000-55361800	Weak transcription	NHEK	skin
49	chr14:55357200-55359000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr14:55357400-55357600	Enhancers	Pancreatic Islets	Pancreatic Islet

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