Variant report

Variant	rs1050224
Chromosome Location	chr2:231331896-231331897
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	POLR2A	chr2:231331797-231332047	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:231331708-231332151	GM12891	blood:	n/a	n/a
3	POLR2A	chr2:231331801-231332140	GM12891	blood:	n/a	n/a
4	POLR2A	chr2:231331370-231332231	GM12892	blood:	n/a	n/a
5	POLR2A	chr2:231331863-231332146	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:231331804-231332031	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:231331420-231332166	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:231331370-231332043	GM12892	blood:	n/a	n/a
9	POLR2A	chr2:231331358-231332666	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:231331878-231331945	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:231331374-231332251	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
SP100	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1615190	0.99[ASN][1000 genomes]
rs1622283	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1622822	0.99[ASN][1000 genomes]
rs1622980	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs1649869	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1649884	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1649890	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1649929	0.99[ASN][1000 genomes]
rs2219811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4972955	0.97[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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1050224	SP100	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
2	chr2:231301800-231345000	Weak transcription	A549	lung
3	chr2:231307600-231336600	Strong transcription	Duodenum Mucosa	Duodenum
4	chr2:231308800-231337000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:231308800-231337400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:231309600-231336800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:231312400-231337000	Weak transcription	HepG2	liver
8	chr2:231312400-231337200	Weak transcription	Hela-S3	cervix
9	chr2:231319600-231336000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:231319800-231332200	Weak transcription	Fetal Heart	heart
11	chr2:231319800-231336600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:231319800-231336800	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr2:231319800-231336800	Strong transcription	HSMM	muscle
14	chr2:231320000-231336600	Strong transcription	Osteobl	bone
15	chr2:231321400-231336400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:231321800-231336600	Strong transcription	Ovary	ovary
17	chr2:231321800-231338600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:231322000-231336600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:231322200-231336600	Strong transcription	Placenta	Placenta
20	chr2:231322200-231340200	Strong transcription	Liver	Liver
21	chr2:231322400-231333600	Strong transcription	GM12878-XiMat	blood
22	chr2:231322600-231336200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr2:231322600-231336400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:231322600-231336600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:231322600-231336600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:231322600-231336800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:231322600-231336800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:231322600-231338200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:231322800-231332200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:231322800-231336800	Strong transcription	Adipose Nuclei	Adipose
31	chr2:231322800-231336800	Strong transcription	Fetal Thymus	thymus
32	chr2:231323000-231336800	Strong transcription	Thymus	Thymus
33	chr2:231323200-231336400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:231323400-231335600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:231323400-231336400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:231323400-231336800	Strong transcription	Primary T cells from cord blood	blood
37	chr2:231323400-231337600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:231323800-231337800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:231324000-231334800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr2:231324000-231336800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:231324200-231334600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr2:231324200-231336600	Weak transcription	K562	blood
43	chr2:231324200-231336600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:231324400-231336800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:231324600-231333400	Strong transcription	Primary B cells from cord blood	blood
46	chr2:231324600-231335600	Strong transcription	Fetal Intestine Large	intestine
47	chr2:231324600-231336200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:231324800-231336600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:231325800-231333000	Strong transcription	NHEK	skin
50	chr2:231325800-231336000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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