Variant report

Variant	rs530019839
Chromosome Location	chr1:213131639-213131640
allele	C/T
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	NFATC1	chr1:213131199-213131878	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:213131139-213131750	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr1:213131395-213131956	GM12878	blood:	n/a	n/a
4	IKZF1	chr1:213131455-213131905	GM12878	blood:	n/a	chr1:213131574-213131582
5	MAZ	chr1:213131366-213132014	IMR90	lung:	n/a	n/a
6	STAT5A	chr1:213131296-213131867	GM12878	blood:	n/a	chr1:213131642-213131654
7	ZNF143	chr1:213131534-213131983	GM12878	blood:	n/a	chr1:213131816-213131835
8	POLR2A	chr1:213130171-213132019	GM12878	blood:	n/a	n/a
9	TCF12	chr1:213131548-213131861	GM12878	blood:	n/a	n/a
10	EBF1	chr1:213131490-213132123	GM12878	blood:	n/a	chr1:213131950-213131961
11	POLR2A	chr1:213131385-213131790	GM12878	blood:	n/a	n/a
12	JUND	chr1:213131558-213131734	H1-hESC	embryonic stem cell:	n/a	chr1:213131604-213131613
13	POLR2A	chr1:213131256-213131973	GM12892	blood:	n/a	n/a
14	CHD2	chr1:213131487-213131898	GM12878	blood:	n/a	n/a
15	CTCF	chr1:213131580-213131730	GM12865	blood:	n/a	chr1:213131649-213131662
16	JUND	chr1:213131428-213131849	K562	blood:	n/a	chr1:213131604-213131613
17	FOXM1	chr1:213131380-213132003	GM12878	blood:	n/a	n/a
18	PML	chr1:213131182-213132158	GM12878	blood:	n/a	n/a
19	MAZ	chr1:213131518-213131836	K562	blood:	n/a	n/a
20	BCLAF1	chr1:213131384-213131938	GM12878	blood:	n/a	chr1:213131713-213131721 chr1:213131698-213131707
21	POLR2A	chr1:213131489-213131908	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr1:213131590-213131953	GM12878	blood:	n/a	chr1:213131649-213131662
23	SMC3	chr1:213131618-213131979	GM12878	blood:	n/a	chr1:213131649-213131663
24	JUND	chr1:213131555-213131745	HepG2	liver:	n/a	chr1:213131604-213131613
25	MAX	chr1:213131516-213131960	NB4	blood:	n/a	n/a
26	EBF1	chr1:213131383-213132222	GM12878	blood:	n/a	chr1:213131950-213131961
27	NFIC	chr1:213131288-213132052	GM12878	blood:	n/a	n/a
28	ELF1	chr1:213131363-213131962	GM12878	blood:	n/a	chr1:213131694-213131707
29	EP300	chr1:213131303-213131897	GM12878	blood:	n/a	n/a
30	ATF2	chr1:213131396-213131885	GM12878	blood:	n/a	n/a
31	PAX5	chr1:213131392-213131932	GM12878	blood:	n/a	chr1:213131698-213131707
32	ELF1	chr1:213131533-213131845	K562	blood:	n/a	chr1:213131694-213131707
33	TEAD4	chr1:213131455-213131861	K562	blood:	n/a	n/a
34	YY1	chr1:213131617-213131864	GM12878	blood:	n/a	chr1:213131644-213131655
35	RCOR1	chr1:213131562-213131758	K562	blood:	n/a	n/a
36	POLR2A	chr1:213131106-213131966	GM12878	blood:	n/a	n/a
37	TCF3	chr1:213131497-213131829	GM12878	blood:	n/a	chr1:213131801-213131815 chr1:213131805-213131818
38	POLR2A	chr1:213130991-213132087	GM12892	blood:	n/a	n/a
39	MTA3	chr1:213131074-213132114	GM12878	blood:	n/a	n/a
40	RAD21	chr1:213131569-213131872	GM12878	blood:	n/a	chr1:213131648-213131661 chr1:213131649-213131659
41	POLR2A	chr1:213131166-213132182	H1-hESC	embryonic stem cell:	n/a	n/a
42	MTA3	chr1:213131131-213132097	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:213131486-213131764	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:213131309-213131838	H1-hESC	embryonic stem cell:	n/a	n/a
45	STAT5A	chr1:213131495-213131900	GM12878	blood:	n/a	chr1:213131642-213131654
46	EBF1	chr1:213131397-213132111	GM12878	blood:	n/a	chr1:213131950-213131961
47	MAX	chr1:213131541-213131734	K562	blood:	n/a	n/a
48	RUNX3	chr1:213131274-213132103	GM12878	blood:	n/a	n/a
49	RELA	chr1:213131552-213132071	GM19099	blood:	n/a	n/a
50	PAX5	chr1:213131542-213131850	GM12878	blood:	n/a	chr1:213131698-213131707

No.	Distal block	Cell Line	Cell type
1	chr1:213109459..213112598-chr1:213130088..213131866,3	K562	blood:
2	chr1:213127202..213129591-chr1:213131577..213134286,2	K562	blood:
3	chr1:213109337..213110959-chr1:213129014..213131866,2	K562	blood:
4	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:53 , 50 per page) page: 1 2

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	chr1:213125600-213132600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:213125600-213141000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:213125800-213141000	Weak transcription	A549	lung
6	chr1:213125800-213145800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:213126000-213134000	Weak transcription	Fetal Intestine Small	intestine
8	chr1:213126400-213152400	Strong transcription	Fetal Stomach	stomach
9	chr1:213126600-213140600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:213126800-213154400	Strong transcription	Fetal Brain Female	brain
11	chr1:213127000-213136400	Weak transcription	Fetal Brain Male	brain
12	chr1:213127000-213153200	Strong transcription	Fetal Lung	lung
13	chr1:213127200-213132600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:213127400-213140800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:213128400-213140800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:213128800-213133000	Weak transcription	Fetal Intestine Large	intestine
17	chr1:213129000-213141600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:213129400-213134200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:213129600-213139800	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr1:213130000-213153800	Weak transcription	Thymus	Thymus
21	chr1:213130200-213133800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
22	chr1:213130400-213131800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:213130400-213131800	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:213130600-213132200	Enhancers	HSMMtube	muscle
25	chr1:213130600-213135600	Strong transcription	Brain Germinal Matrix	brain
26	chr1:213130800-213133600	Genic enhancers	Fetal Muscle Leg	muscle
27	chr1:213131000-213131800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:213131000-213132400	Enhancers	HSMM	muscle
29	chr1:213131000-213133400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:213131000-213133800	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr1:213131200-213131800	Genic enhancers	H1 Cell Line	embryonic stem cell
32	chr1:213131200-213131800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:213131200-213131800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:213131200-213132000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:213131200-213132000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:213131200-213132000	Enhancers	Fetal Thymus	thymus
37	chr1:213131200-213133000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:213131200-213133000	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:213131200-213133000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr1:213131200-213138000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:213131400-213131800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:213131400-213131800	Enhancers	Osteobl	bone
43	chr1:213131400-213132000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:213131400-213132000	Enhancers	Dnd41	blood
45	chr1:213131400-213132000	Enhancers	NHLF	lung
46	chr1:213131400-213133000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr1:213131400-213133400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:213131400-213139600	Weak transcription	Fetal Kidney	kidney
49	chr1:213131400-213153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:213131600-213131800	Enhancers	NH-A	brain

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