Variant report

Variant	rs12133658
Chromosome Location	chr1:212340717-212340718
allele	C/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	RAD21	chr1:212340420-212340743	IMR90	lung:	n/a	n/a
2	FOS	chr1:212339902-212340962	HUVEC	blood vessel:	n/a	n/a
3	JUN	chr1:212339836-212340939	HUVEC	blood vessel:	n/a	n/a
4	MAX	chr1:212340417-212340769	K562	blood:	n/a	n/a
5	GATA2	chr1:212339564-212341003	HUVEC	blood vessel:	n/a	chr1:212340852-212340862 chr1:212340270-212340278
6	BHLHE40	chr1:212340407-212340742	K562	blood:	n/a	chr1:212340634-212340650
7	UBTF	chr1:212340477-212340747	K562	blood:	n/a	n/a
8	CEBPB	chr1:212340476-212340824	IMR90	lung:	n/a	n/a
9	POLR2A	chr1:212339743-212340963	HUVEC	blood vessel:	n/a	n/a
10	CEBPB	chr1:212340505-212340805	HepG2	liver:	n/a	n/a
11	SIN3AK20	chr1:212340465-212340783	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr1:212340437-212341039	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr1:212340537-212340723	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr1:212340397-212340727	U87	brain:	n/a	n/a
15	MAZ	chr1:212340299-212340955	IMR90	lung:	n/a	n/a
16	RCOR1	chr1:212340135-212340976	IMR90	lung:	n/a	n/a
17	MXI1	chr1:212340109-212340975	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212335142..212337440-chr1:212338165..212340749,2	K562	blood:
2	chr1:212340300..212343079-chr1:212458755..212460683,2	K562	blood:

Variant related genes	Relation type
ENSG00000229983	TF binding region
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10779569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779570	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10863945	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863947	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119863	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119865	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11119866	0.94[ASN][1000 genomes]
rs12566005	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907020	1.00[ASN][1000 genomes]
rs1907021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907023	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2358450	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951573	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535429	0.85[AMR][1000 genomes];1.00[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212309000-212347200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212333000-212342000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:212336800-212359600	Weak transcription	Dnd41	blood
4	chr1:212339000-212340800	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:212339200-212340800	Enhancers	K562	blood
6	chr1:212339200-212341200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:212339400-212340800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:212339600-212340800	Enhancers	Fetal Thymus	thymus
9	chr1:212339600-212340800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:212339600-212340800	Flanking Active TSS	HUVEC	blood vessel
11	chr1:212339800-212340800	Enhancers	Aorta	Aorta
12	chr1:212339800-212340800	Enhancers	Gastric	stomach
13	chr1:212339800-212340800	Enhancers	Stomach Mucosa	stomach
14	chr1:212339800-212341000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:212339800-212341000	Enhancers	NHLF	lung
16	chr1:212340000-212340800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:212340000-212340800	Enhancers	Fetal Lung	lung
18	chr1:212340000-212340800	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:212340000-212341000	Enhancers	Osteobl	bone
20	chr1:212340200-212340800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:212340200-212340800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:212340200-212340800	Enhancers	Primary T cells from cord blood	blood
23	chr1:212340200-212340800	Enhancers	Brain Substantia Nigra	brain
24	chr1:212340200-212340800	Enhancers	Fetal Stomach	stomach
25	chr1:212340200-212340800	Enhancers	Left Ventricle	heart
26	chr1:212340200-212340800	Enhancers	Lung	lung
27	chr1:212340200-212340800	Enhancers	Spleen	Spleen
28	chr1:212340200-212341000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:212340400-212340800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:212340400-212340800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:212340400-212340800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:212340400-212340800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:212340400-212340800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr1:212340400-212340800	Enhancers	Fetal Muscle Trunk	muscle
35	chr1:212340400-212340800	Enhancers	Placenta	Placenta
36	chr1:212340400-212340800	Enhancers	Ovary	ovary
37	chr1:212340400-212340800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr1:212340400-212340800	Enhancers	HepG2	liver
39	chr1:212340400-212340800	Enhancers	HSMMtube	muscle
40	chr1:212340400-212340800	Flanking Active TSS	NHDF-Ad	bronchial
41	chr1:212340600-212340800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr1:212340600-212340800	Weak transcription	Right Atrium	heart
43	chr1:212340600-212341000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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