Variant report

Variant	rs17030350
Chromosome Location	chr1:113005391-113005392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:113005325-113005962	K562	blood:	n/a	n/a
2	TEAD4	chr1:113005372-113005945	K562	blood:	n/a	n/a
3	EBF1	chr1:113005308-113005727	GM12878	blood:	n/a	n/a
4	STAT5A	chr1:113005387-113005895	K562	blood:	n/a	n/a
5	RCOR1	chr1:113004806-113005929	K562	blood:	n/a	n/a
6	TAL1	chr1:113005197-113005943	K562	blood:	n/a	n/a
7	GATA3	chr1:113004883-113005428	MCF-7	breast:	n/a	n/a
8	MYC	chr1:113004827-113005908	K562	blood:	n/a	n/a
9	SPI1	chr1:113005245-113005575	GM12891	blood:	n/a	n/a
10	SPI1	chr1:113005238-113005548	GM12878	blood:	n/a	n/a
11	SPI1	chr1:113005202-113005584	GM12891	blood:	n/a	n/a
12	RFX5	chr1:113005390-113005496	HepG2	liver:	n/a	n/a
13	EBF1	chr1:113005329-113005597	GM12878	blood:	n/a	n/a
14	NR2F2	chr1:113005302-113005961	K562	blood:	n/a	n/a
15	ZNF384	chr1:113004784-113005739	K562	blood:	n/a	n/a
16	SIN3AK20	chr1:113004954-113005477	MCF-7	breast:	n/a	n/a
17	GATA1	chr1:113004872-113005933	K562	blood:	n/a	n/a
18	TBP	chr1:113005302-113005818	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:112936667..112940657-chr1:113004024..113011069,20	MCF-7	breast:
2	chr1:113004968..113007930-chr1:113157239..113158871,3	MCF-7	breast:
3	chr1:113002255..113010411-chr1:113160144..113164475,13	MCF-7	breast:
4	chr1:112935548..112944315-chr1:113002393..113010397,28	MCF-7	breast:
5	chr1:113005044..113006620-chr1:113050392..113051897,2	MCF-7	breast:
6	chr1:112933482..112935599-chr1:113004006..113005580,2	K562	blood:
7	chr1:113003059..113010084-chr1:113159503..113164005,9	MCF-7	breast:
8	chr1:112938266..112940325-chr1:113005326..113008155,2	K562	blood:

No data

Variant related genes	Relation type
WNT2B	TF binding region
ENSG00000007341	Chromatin interaction
ENSG00000143079	Chromatin interaction
ENSG00000134245	Chromatin interaction
ENSG00000116489	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11102490	1.00[MEX][hapmap]
rs11102493	1.00[MEX][hapmap]
rs1175632	1.00[MEX][hapmap]
rs1175640	1.00[MEX][hapmap]
rs1175642	1.00[MEX][hapmap]
rs12073750	1.00[MEX][hapmap]
rs12087862	1.00[MEX][hapmap]
rs12094504	1.00[MEX][hapmap]
rs17030259	0.86[YRI][hapmap]
rs17030344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030446	1.00[MEX][hapmap]
rs17030475	1.00[MEX][hapmap]
rs1936047	1.00[MEX][hapmap]
rs6693450	1.00[MEX][hapmap]
rs7542272	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112981400-113006000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:112988800-113008400	Weak transcription	A549	lung
3	chr1:112994600-113008800	Weak transcription	Psoas Muscle	Psoas
4	chr1:112994800-113008600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:112995800-113007000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:112999400-113008000	Weak transcription	Right Atrium	heart
7	chr1:112999800-113008200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:113000000-113005600	Weak transcription	Esophagus	oesophagus
9	chr1:113000000-113006400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:113000000-113007800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:113000000-113008400	Weak transcription	Pancreas	Pancrea
12	chr1:113000000-113008400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:113000000-113008400	Weak transcription	Dnd41	blood
14	chr1:113000200-113005600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:113000200-113007200	Weak transcription	Spleen	Spleen
16	chr1:113000200-113008200	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:113000200-113008600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:113000200-113009600	Weak transcription	Small Intestine	intestine
19	chr1:113000400-113007800	Weak transcription	Fetal Brain Male	brain
20	chr1:113000400-113008200	Weak transcription	Brain Germinal Matrix	brain
21	chr1:113000600-113008400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:113000800-113008200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:113000800-113008400	Weak transcription	Right Ventricle	heart
24	chr1:113001000-113007800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:113001200-113008600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:113001400-113008000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:113001400-113008000	Weak transcription	Hela-S3	cervix
28	chr1:113001600-113005600	Enhancers	Fetal Lung	lung
29	chr1:113001600-113006400	Weak transcription	Colonic Mucosa	Colon
30	chr1:113001600-113007000	Weak transcription	Lung	lung
31	chr1:113001600-113007400	Weak transcription	Brain Substantia Nigra	brain
32	chr1:113001600-113008000	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:113001600-113008200	Weak transcription	Fetal Stomach	stomach
34	chr1:113001600-113008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:113001600-113008400	Weak transcription	Ovary	ovary
36	chr1:113001600-113008600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:113001600-113009000	Weak transcription	Aorta	Aorta
38	chr1:113001800-113007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:113001800-113008200	Weak transcription	Fetal Brain Female	brain
40	chr1:113002000-113006600	Strong transcription	HSMM	muscle
41	chr1:113002000-113007000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:113002000-113007800	Weak transcription	Brain Angular Gyrus	brain
43	chr1:113002000-113008200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:113002000-113008200	Weak transcription	Left Ventricle	heart
45	chr1:113002000-113008200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:113002000-113008400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:113002200-113007200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:113002600-113005400	Enhancers	Fetal Kidney	kidney
49	chr1:113002800-113005400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:113002800-113008600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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