Variant report

Variant	rs16844878
Chromosome Location	chr1:225613736-225613737
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	JUN	chr1:225611820-225617257	K562	blood:	n/a	chr1:225613227-225613237 chr1:225616567-225616575 chr1:225615250-225615261 chr1:225616568-225616575 chr1:225612971-225612983 chr1:225616565-225616577 chr1:225613226-225613238 chr1:225613227-225613237 chr1:225613228-225613236 chr1:225616567-225616575 chr1:225615989-225615998 chr1:225612930-225612939 chr1:225613227-225613237 chr1:225616648-225616657 chr1:225615862-225615871 chr1:225616566-225616576
2	GATA2	chr1:225613582-225614118	HUVEC	blood vessel:	n/a	chr1:225613711-225613727 chr1:225613708-225613729 chr1:225613711-225613727
3	FOS	chr1:225613669-225614241	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:225611871-225615203	K562	blood:	n/a	n/a
5	GATA3	chr1:225613589-225613775	T-47D	breast:	n/a	chr1:225613711-225613727 chr1:225613708-225613729 chr1:225613711-225613727
6	GATA3	chr1:225613545-225613963	SH-SY5Y	brain:	n/a	chr1:225613711-225613727 chr1:225613708-225613729 chr1:225613711-225613727
7	TAL1	chr1:225613589-225613844	K562	blood:	n/a	n/a
8	POLR2A	chr1:225613030-225616753	K562	blood:	n/a	n/a
9	FOS	chr1:225613662-225614070	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr1:225613049-225615057	MCF10A-Er-Src	breast:	n/a	chr1:225614720-225614727 chr1:225614718-225614728 chr1:225613403-225613413
11	MXI1	chr1:225609788-225616921	SK-N-SH	brain:	n/a	n/a
12	TBL1XR1	chr1:225613532-225615014	K562	blood:	n/a	n/a
13	MYC	chr1:225613726-225617110	K562	blood:	n/a	chr1:225616368-225616378 chr1:225614720-225614727 chr1:225616566-225616575 chr1:225614718-225614728 chr1:225615632-225615642
14	E2F4	chr1:225613679-225614002	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA3	chr1:225613015-225613961	SK-N-SH	brain:	n/a	chr1:225613711-225613727 chr1:225613059-225613069 chr1:225613708-225613729 chr1:225613060-225613072 chr1:225613711-225613727
16	MYC	chr1:225613674-225616825	K562	blood:	n/a	chr1:225616368-225616378 chr1:225614720-225614727 chr1:225616566-225616575 chr1:225614718-225614728 chr1:225615632-225615642

No.	Distal block	Cell Line	Cell type
1	chr1:225611374..225613907-chr1:225615245..225617904,3	MCF-7	breast:
2	chr1:225605937..225609657-chr1:225612868..225616965,5	MCF-7	breast:
3	chr1:225611259..225613937-chr1:225629471..225632737,4	K562	blood:
4	chr1:225604992..225607166-chr1:225612913..225616218,4	MCF-7	breast:
5	chr1:225613325..225614871-chr1:225640956..225643217,2	K562	blood:
6	chr1:225569904..225572339-chr1:225612601..225615493,2	K562	blood:

Variant related genes	Relation type
LBR	TF binding region
ENSG00000143815	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 2 )

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS 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	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16844878	LEFTY2	cis	cerebellum	SCAN
rs16844878	MARK1	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225599800-225614000	Weak transcription	Right Ventricle	heart
2	chr1:225607000-225613800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:225609600-225615200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr1:225609800-225613800	Enhancers	Fetal Brain Male	brain
5	chr1:225609800-225614200	Enhancers	Small Intestine	intestine
6	chr1:225610000-225613800	Enhancers	Fetal Lung	lung
7	chr1:225610200-225613800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:225611000-225613800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:225611000-225613800	Enhancers	Brain Hippocampus Middle	brain
10	chr1:225611200-225614000	Enhancers	Fetal Heart	heart
11	chr1:225611400-225614000	Enhancers	Fetal Muscle Leg	muscle
12	chr1:225611600-225614200	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:225612000-225614000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:225612000-225614000	Enhancers	HSMMtube	muscle
15	chr1:225612000-225614200	Flanking Active TSS	Fetal Brain Female	brain
16	chr1:225612000-225614200	Transcr. at gene 5' and 3'	K562	blood
17	chr1:225612000-225614600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:225612000-225614600	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr1:225612000-225615000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr1:225612000-225615400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr1:225612200-225613800	Enhancers	Adipose Nuclei	Adipose
22	chr1:225612200-225614000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:225612200-225614000	Enhancers	Brain Anterior Caudate	brain
24	chr1:225612200-225614000	Flanking Active TSS	A549	lung
25	chr1:225612200-225614200	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr1:225612200-225614200	Enhancers	Gastric	stomach
27	chr1:225612200-225614400	Flanking Active TSS	HMEC	breast
28	chr1:225612200-225614600	Flanking Active TSS	Osteobl	bone
29	chr1:225612200-225614800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:225612400-225613800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr1:225612400-225613800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:225612400-225613800	Enhancers	Esophagus	oesophagus
33	chr1:225612400-225613800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:225612400-225614000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr1:225612400-225614000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:225612400-225614000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:225612400-225614000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:225612400-225614000	Enhancers	Right Atrium	heart
39	chr1:225612400-225614000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr1:225612400-225614200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:225612400-225614200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:225612400-225614200	Enhancers	Brain Substantia Nigra	brain
43	chr1:225612400-225614200	Enhancers	Psoas Muscle	Psoas
44	chr1:225612400-225614200	Flanking Active TSS	GM12878-XiMat	blood
45	chr1:225612400-225614400	Flanking Active TSS	NHEK	skin
46	chr1:225612400-225614600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:225612400-225614600	Enhancers	Spleen	Spleen
48	chr1:225612400-225614800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr1:225612400-225614800	Flanking Active TSS	NH-A	brain
50	chr1:225612400-225615000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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