Variant report

Variant	rs10416250
Chromosome Location	chr19:19100158-19100159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19100000-19101400	U87	brain:	n/a	n/a
2	POLR2A	chr19:19100132-19101475	MCF-7	breast:	n/a	n/a
3	POLR2A	chr19:19100064-19100467	K562	blood:	n/a	n/a
4	POLR2A	chr19:19100090-19101643	A549	lung:	n/a	n/a
5	FOSL2	chr19:19100068-19100388	HepG2	liver:	n/a	chr19:19100358-19100372
6	POLR2A	chr19:19100011-19101562	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr19:19100130-19100521	GM12891	blood:	n/a	n/a
8	POLR2A	chr19:19099946-19100795	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr19:19100068-19101488	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr19:19099977-19100295	U87	brain:	n/a	n/a
11	POLR2A	chr19:19099977-19100212	U87	brain:	n/a	n/a
12	POLR2A	chr19:19100000-19101464	U87	brain:	n/a	n/a
13	MTA3	chr19:19099927-19101533	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:19099930-19101770	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr19:19100088-19102888	K562	blood:	n/a	n/a
16	POLR2A	chr19:19100114-19101675	GM12891	blood:	n/a	n/a
17	POLR2A	chr19:19100059-19101646	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr19:19100049-19101659	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:19100108-19100415	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr19:19100142-19101703	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19094846..19096538-chr19:19098164..19100620,2	K562	blood:
2	chr19:19048490..19051471-chr19:19097448..19100408,2	K562	blood:
3	chr19:19086874..19091371-chr19:19096444..19100736,4	K562	blood:
4	chr19:19099305..19102487-chr19:19102568..19107094,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269131	TF binding region
ENSG00000051128	Chromatin interaction
ENSG00000269019	Chromatin interaction
ENSG00000064607	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10402553	1.00[EUR][1000 genomes]
rs10403808	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10404020	0.83[AFR][1000 genomes]
rs10404077	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10404860	1.00[EUR][1000 genomes]
rs10404879	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405178	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10405609	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10406282	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10406341	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10406496	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10407260	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10407753	0.93[AFR][1000 genomes]
rs10407980	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10408567	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10409265	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs10409395	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411413	1.00[YRI][hapmap]
rs10411786	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10412101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10413216	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10414535	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10415998	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs10416041	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416054	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10416240	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10416730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417682	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417995	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418688	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10419114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10419307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10420479	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10420559	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10422058	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10422079	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10422238	0.84[AFR][1000 genomes]
rs10422813	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10423129	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10426131	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13344769	1.00[EUR][1000 genomes]
rs13344835	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs13345246	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28369262	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28374656	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28376498	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28380085	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28421315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28445835	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28475392	0.83[AFR][1000 genomes]
rs28477157	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28477961	1.00[AFR][1000 genomes]
rs28507927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533991	0.86[AFR][1000 genomes]
rs28568599	1.00[EUR][1000 genomes]
rs28582808	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28619464	0.95[AFR][1000 genomes]
rs28628081	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28699197	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs28720008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35646935	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57654710	1.00[EUR][1000 genomes]
rs6511012	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7252085	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7256152	1.00[EUR][1000 genomes]
rs8106189	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9917000	1.00[EUR][1000 genomes]
rs9917034	1.00[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	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv2435	chr19:19077432-19122579	Strong transcription Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19084200-19107800	Weak transcription	Right Atrium	heart
2	chr19:19096200-19101600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr19:19096200-19104000	Weak transcription	Primary B cells from cord blood	blood
4	chr19:19096400-19100800	Weak transcription	Fetal Brain Female	brain
5	chr19:19096400-19101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:19096400-19102200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr19:19096400-19103400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:19096400-19103600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr19:19096600-19101400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:19096600-19103400	Weak transcription	NH-A	brain
11	chr19:19096800-19101200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:19096800-19102400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:19096800-19104000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:19097000-19101800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr19:19097600-19101000	Weak transcription	Spleen	Spleen
16	chr19:19097600-19101200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr19:19097600-19101800	Weak transcription	NHLF	lung
18	chr19:19097600-19102000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:19097600-19102400	Weak transcription	Left Ventricle	heart
20	chr19:19097600-19103400	Weak transcription	HUVEC	blood vessel
21	chr19:19097600-19103600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:19097800-19100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:19097800-19101000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:19097800-19101200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:19097800-19101200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:19098000-19100200	Weak transcription	Adipose Nuclei	Adipose
27	chr19:19098000-19100200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr19:19098000-19100200	Weak transcription	Fetal Heart	heart
29	chr19:19098000-19100600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:19098000-19100600	Weak transcription	Fetal Intestine Large	intestine
31	chr19:19098000-19100800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:19098000-19100800	Weak transcription	Fetal Lung	lung
33	chr19:19098000-19101000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:19098000-19101000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:19098000-19101000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr19:19098000-19101000	Weak transcription	Brain Anterior Caudate	brain
37	chr19:19098000-19101000	Weak transcription	Brain Hippocampus Middle	brain
38	chr19:19098000-19101000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:19098000-19101000	Weak transcription	Lung	lung
40	chr19:19098000-19101200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr19:19098000-19101200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr19:19098000-19101200	Weak transcription	Brain Substantia Nigra	brain
43	chr19:19098000-19101400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr19:19098000-19101400	Weak transcription	Liver	Liver
45	chr19:19098000-19101400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr19:19098000-19101400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr19:19098000-19101400	Weak transcription	NHDF-Ad	bronchial
48	chr19:19098000-19101600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:19098000-19101800	Weak transcription	Fetal Brain Male	brain
50	chr19:19098000-19101800	Weak transcription	Pancreas	Pancrea

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