Variant report

Variant	rs7250893
Chromosome Location	chr19:19625547-19625548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr19:19625501-19625875	K562	blood:	n/a	n/a
2	POLR2A	chr19:19625409-19626082	HL-60	blood:	n/a	n/a
3	POLR2A	chr19:19625255-19626410	GM12878	blood:	n/a	n/a
4	MAX	chr19:19625064-19625720	HUVEC	blood vessel:	n/a	n/a
5	TCF3	chr19:19625412-19626232	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:19625459-19627598	K562	blood:	n/a	n/a
7	POLR2A	chr19:19624892-19625571	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr19:19624956-19625629	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr19:19625471-19627533	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:19625417-19627578	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19623259..19625867-chr19:19772617..19774685,2	MCF-7	breast:
2	chr19:19429648..19431452-chr19:19623394..19625742,2	MCF-7	breast:
3	chr19:19301631..19304213-chr19:19625502..19628076,2	MCF-7	breast:
4	chr19:19625322..19628012-chr19:19773852..19776193,2	K562	blood:
5	chr19:19430154..19433018-chr19:19625258..19627975,2	K562	blood:
6	chr19:19625365..19628497-chr19:19651436..19653967,3	K562	blood:
7	chr19:19622555..19628571-chr19:19737113..19740295,6	MCF-7	breast:
8	chr19:19625369..19628375-chr19:19648780..19652325,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258674	TF binding region
NDUFA13	TF binding region
YJEFN3	TF binding region
ENSG00000129933	Chromatin interaction
ENSG00000160161	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000105726	Chromatin interaction
ENSG00000064547	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000213999	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1000237	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10282	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10401193	0.88[ASN][1000 genomes]
rs10402308	0.93[ASN][1000 genomes]
rs10402451	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10402627	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10404728	0.88[ASN][1000 genomes]
rs10405625	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10410664	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10414830	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10419912	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10422819	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1047361	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1054284	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1054930	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1063966	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11669516	0.84[ASN][1000 genomes]
rs12972397	0.84[ASN][1000 genomes]
rs12975119	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12977524	0.84[ASN][1000 genomes]
rs12981405	0.84[ASN][1000 genomes]
rs1465695	0.88[ASN][1000 genomes]
rs1469712	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1469713	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1808653	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1858999	0.86[ASN][1000 genomes]
rs1865034	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2082421	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2099333	0.88[ASN][1000 genomes]
rs2099334	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2163804	0.84[ASN][1000 genomes]
rs2163805	0.84[ASN][1000 genomes]
rs2288852	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2304098	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2315279	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2315281	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2315610	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28478453	0.82[ASN][1000 genomes]
rs2905431	0.85[ASN][1000 genomes]
rs2916069	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2916073	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2916074	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2916076	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2965175	0.80[ASN][1000 genomes]
rs2965180	0.86[ASN][1000 genomes]
rs2965182	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2965183	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2965188	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2965189	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34277109	0.86[ASN][1000 genomes]
rs34647936	0.84[ASN][1000 genomes]
rs35418933	0.84[ASN][1000 genomes]
rs3752151	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3794990	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3794993	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808198	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808199	0.84[ASN][1000 genomes]
rs4808200	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808202	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808203	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808208	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808955	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4808957	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4808959	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4808960	0.84[ASN][1000 genomes]
rs4808961	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808964	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4808965	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808967	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60003758	0.84[ASN][1000 genomes]
rs6511036	0.85[ASN][1000 genomes]
rs6511038	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6909	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7245983	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7252888	0.91[ASN][1000 genomes]
rs7253807	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7256149	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs747050	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs751856	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs751858	0.97[ASN][1000 genomes]
rs754255	0.84[ASN][1000 genomes]
rs892021	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs892022	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9917108	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[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	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19613600-19626200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:19615600-19626400	Weak transcription	Aorta	Aorta
3	chr19:19615800-19626000	Weak transcription	Hela-S3	cervix
4	chr19:19615800-19626400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:19616000-19626400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:19616200-19626200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:19616400-19626200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:19616600-19626200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:19616600-19626200	Weak transcription	GM12878-XiMat	blood
10	chr19:19616800-19626200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:19617000-19625600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr19:19617400-19625800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:19617800-19626000	Weak transcription	HepG2	liver
14	chr19:19618000-19626400	Weak transcription	HUVEC	blood vessel
15	chr19:19618200-19626200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr19:19618200-19626200	Weak transcription	Small Intestine	intestine
17	chr19:19618400-19626000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:19618600-19626200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:19618600-19626400	Weak transcription	NHDF-Ad	bronchial
20	chr19:19618800-19626200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:19618800-19626200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr19:19618800-19626200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:19618800-19626200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:19618800-19626400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:19618800-19626400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr19:19619000-19626200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:19619000-19626400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:19619200-19626200	Weak transcription	Brain Substantia Nigra	brain
29	chr19:19619200-19626200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr19:19619200-19626200	Weak transcription	A549	lung
31	chr19:19619200-19626400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:19619200-19626400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr19:19619400-19625600	Weak transcription	Primary T cells from cord blood	blood
34	chr19:19619400-19625800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr19:19619400-19625800	Weak transcription	Dnd41	blood
36	chr19:19619400-19626000	Weak transcription	Liver	Liver
37	chr19:19619400-19626200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:19619400-19626200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:19619400-19626200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:19619400-19626200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:19619400-19626200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:19619400-19626200	Weak transcription	HSMMtube	muscle
43	chr19:19619800-19626200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:19621600-19626400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr19:19621800-19626200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr19:19623400-19626200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr19:19624400-19626200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
48	chr19:19624600-19625800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:19624600-19626000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:19624600-19626000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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