Variant report

Variant	rs531590856
Chromosome Location	chr1:213132740-213132741
allele	A/C
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	MYC	chr1:213132734-213132814	HUVEC	blood vessel:	n/a	n/a
2	EBF1	chr1:213132509-213133853	GM12878	blood:	n/a	chr1:213133337-213133346
3	NFATC1	chr1:213132588-213133950	GM12878	blood:	n/a	n/a
4	SPI1	chr1:213132647-213132945	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:213132630-213133835	GM12878	blood:	n/a	n/a
6	IKZF1	chr1:213132650-213133750	GM12878	blood:	n/a	n/a
7	MTA3	chr1:213132581-213134243	GM12878	blood:	n/a	n/a
8	WRNIP1	chr1:213132578-213133841	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:213132551-213134842	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:213132374-213134838	GM12878	blood:	n/a	n/a
11	ATF2	chr1:213132738-213133762	GM12878	blood:	n/a	n/a
12	MXI1	chr1:213132687-213133602	GM12878	blood:	n/a	chr1:213133306-213133315 chr1:213133304-213133313
13	POLR2A	chr1:213132256-213134281	GM12892	blood:	n/a	n/a
14	PML	chr1:213132515-213133891	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:213132738-213132931	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr1:213132306-213134999	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZNF143	chr1:213132685-213132759	GM12878	blood:	n/a	n/a
18	EBF1	chr1:213132678-213133563	GM12878	blood:	n/a	chr1:213133337-213133346
19	POLR2A	chr1:213132377-213133913	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:213132167-213133904	GM12878	blood:	n/a	n/a
21	BHLHE40	chr1:213132446-213132885	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:213132633-213133306	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:213132568-213133878	GM12892	blood:	n/a	n/a
24	POLR2A	chr1:213132335-213133951	GM12892	blood:	n/a	n/a
25	STAT5A	chr1:213132636-213133836	GM12878	blood:	n/a	chr1:213133525-213133533
26	YY1	chr1:213132543-213132886	GM12878	blood:	n/a	n/a
27	YY1	chr1:213132618-213132887	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:213127202..213129591-chr1:213131577..213134286,2	K562	blood:
2	chr1:213127616..213130170-chr1:213132059..213134364,2	K562	blood:
3	chr1:213123028..213126732-chr1:213127921..213134327,6	K562	blood:

Variant related genes	Relation type
VASH2	TF binding region
ENSG00000143494	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv11434	chr1:213131581-213156027	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213125200-213132800	Weak transcription	Lung	lung
2	chr1:213125200-213134200	Weak transcription	Right Atrium	heart
3	chr1:213125600-213141000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:213125800-213141000	Weak transcription	A549	lung
5	chr1:213125800-213145800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:213126000-213134000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:213126400-213152400	Strong transcription	Fetal Stomach	stomach
8	chr1:213126600-213140600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:213126800-213154400	Strong transcription	Fetal Brain Female	brain
10	chr1:213127000-213136400	Weak transcription	Fetal Brain Male	brain
11	chr1:213127000-213153200	Strong transcription	Fetal Lung	lung
12	chr1:213127400-213140800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:213128400-213140800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:213128800-213133000	Weak transcription	Fetal Intestine Large	intestine
15	chr1:213129000-213141600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:213129400-213134200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:213129600-213139800	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr1:213130000-213153800	Weak transcription	Thymus	Thymus
19	chr1:213130200-213133800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
20	chr1:213130600-213135600	Strong transcription	Brain Germinal Matrix	brain
21	chr1:213130800-213133600	Genic enhancers	Fetal Muscle Leg	muscle
22	chr1:213131000-213133400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:213131000-213133800	Genic enhancers	Fetal Muscle Trunk	muscle
24	chr1:213131200-213133000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:213131200-213133000	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:213131200-213133000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:213131200-213138000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:213131400-213133000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:213131400-213133400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:213131400-213139600	Weak transcription	Fetal Kidney	kidney
31	chr1:213131400-213153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:213131600-213138600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:213131600-213139200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:213131600-213141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:213131800-213139000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:213131800-213139200	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr1:213131800-213140000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:213132000-213139200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:213132000-213140400	Weak transcription	Fetal Thymus	thymus
40	chr1:213132000-213141400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:213132400-213133000	Genic enhancers	HSMMtube	muscle
42	chr1:213132400-213133200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:213132400-213133200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:213132400-213134200	Weak transcription	HSMM	muscle
45	chr1:213132400-213140800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:213132600-213133000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:213132600-213133000	Enhancers	HUVEC	blood vessel
48	chr1:213132600-213134800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:213132600-213137000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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