Variant report

Variant	rs587642300
Chromosome Location	chr1:150459458-150459459
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:139)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:139 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr1:150459398-150460325	A549	lung:	n/a	n/a
2	POLR2A	chr1:150459388-150460621	K562	blood:	n/a	n/a
3	PML	chr1:150459398-150460498	MCF-7	breast:	n/a	n/a
4	MEF2C	chr1:150459433-150459795	GM12878	blood:	n/a	chr1:150459651-150459662 chr1:150459650-150459664 chr1:150459648-150459669
5	GABPA	chr1:150459454-150460056	K562	blood:	n/a	n/a
6	TEAD4	chr1:150459429-150460048	K562	blood:	n/a	n/a
7	PBX3	chr1:150459441-150460195	SK-N-SH	brain:	n/a	chr1:150459808-150459828 chr1:150459854-150459863
8	MEF2C	chr1:150459410-150460129	GM12878	blood:	n/a	chr1:150459651-150459662 chr1:150459650-150459664 chr1:150459648-150459669
9	TEAD4	chr1:150459455-150460196	A549	lung:	n/a	n/a
10	BCLAF1	chr1:150459388-150460222	GM12878	blood:	n/a	n/a
11	GATA3	chr1:150459418-150460276	A549	lung:	n/a	chr1:150459571-150459581
12	MEF2A	chr1:150459401-150459921	K562	blood:	n/a	chr1:150459651-150459662 chr1:150459650-150459664 chr1:150459649-150459664 chr1:150459648-150459669
13	TEAD4	chr1:150459400-150460167	K562	blood:	n/a	n/a
14	SP2	chr1:150459421-150460071	H1-hESC	embryonic stem cell:	n/a	chr1:150459806-150459829
15	CREB1	chr1:150459433-150460187	GM12878	blood:	n/a	n/a
16	GABPA	chr1:150459394-150460200	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr1:150459451-150460306	PBDE	blood:	n/a	n/a
18	FOXM1	chr1:150459414-150460120	GM12878	blood:	n/a	n/a
19	JUN	chr1:150459420-150460947	K562	blood:	n/a	n/a
20	POLR2A	chr1:150459439-150460169	SK-N-SH	brain:	n/a	n/a
21	MYBL2	chr1:150459424-150460094	HepG2	liver:	n/a	n/a
22	GABPA	chr1:150459386-150460237	SK-N-SH	brain:	n/a	n/a
23	BCL3	chr1:150459380-150460182	A549	lung:	n/a	n/a
24	CBX3	chr1:150459389-150460147	K562	blood:	n/a	n/a
25	POLR2A	chr1:150459413-150460210	HL-60	blood:	n/a	n/a
26	STAT5A	chr1:150459415-150460300	GM12878	blood:	n/a	chr1:150460082-150460094
27	POLR2A	chr1:150459431-150460598	K562	blood:	n/a	n/a
28	BATF	chr1:150459452-150459879	GM12878	blood:	n/a	n/a
29	MAX	chr1:150459412-150460161	ECC-1	luminal epithelium:	n/a	n/a
30	SIN3AK20	chr1:150459396-150460427	MCF-7	breast:	n/a	n/a
31	MTA3	chr1:150459372-150460195	GM12878	blood:	n/a	n/a
32	TAF1	chr1:150459449-150460072	SK-N-SH	brain:	n/a	n/a
33	MAX	chr1:150459391-150460278	HepG2	liver:	n/a	n/a
34	GABPA	chr1:150459267-150460211	A549	lung:	n/a	n/a
35	MAX	chr1:150459429-150460232	A549	lung:	n/a	n/a
36	POU2F2	chr1:150459405-150460130	GM12878	blood:	n/a	n/a
37	SP4	chr1:150459434-150460004	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:150459440-150460679	GM12878	blood:	n/a	n/a
39	MAX	chr1:150459450-150460164	K562	blood:	n/a	n/a
40	PML	chr1:150459359-150460496	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:150459420-150460589	HUVEC	blood vessel:	n/a	n/a
42	REST	chr1:150459387-150460285	A549	lung:	n/a	chr1:150460087-150460100
43	HDAC2	chr1:150459448-150460436	MCF-7	breast:	n/a	n/a
44	POLR2A	chr1:150459455-150460122	K562	blood:	n/a	n/a
45	MAX	chr1:150459440-150460190	ECC-1	luminal epithelium:	n/a	n/a
46	SIX5	chr1:150459333-150460412	A549	lung:	n/a	n/a
47	NFATC1	chr1:150459392-150460161	GM12878	blood:	n/a	n/a
48	POLR2A	chr1:150459456-150460250	GM12891	blood:	n/a	n/a
49	MEF2A	chr1:150459447-150459953	K562	blood:	n/a	chr1:150459651-150459662 chr1:150459650-150459664 chr1:150459649-150459664 chr1:150459648-150459669
50	ELF1	chr1:150459346-150460750	MCF-7	breast:	n/a	chr1:150460457-150460470

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150456469..150460175-chr1:150533144..150536039,5	K562	blood:
2	chr1:150458168..150459777-chr1:150539728..150541445,2	MCF-7	breast:
3	chr1:150455770..150459652-chr1:150544183..150547234,4	K562	blood:
4	chr1:150458483..150461483-chr1:150486453..150489390,6	MCF-7	breast:
5	chr1:150334215..150336170-chr1:150458883..150461226,2	K562	blood:
6	chr1:150458661..150461236-chr1:150531725..150536785,4	MCF-7	breast:
7	chr1:150459313..150460106-chr17:16284149..16284677,2	HCT-116	colon:
8	chr1:150458274..150463765-chr1:150483214..150490747,8	K562	blood:
9	chr1:150459417..150461989-chr1:150549858..150552620,3	MCF-7	breast:
10	chr1:150457403..150459497-chr1:150504358..150506324,2	MCF-7	breast:
11	chr1:150457915..150461156-chr1:150532058..150534752,4	MCF-7	breast:
12	chr1:113160681..113163117-chr1:150458124..150460105,2	MCF-7	breast:
13	chr1:150459018..150460856-chr1:150519254..150522007,2	MCF-7	breast:
14	chr1:150458615..150462130-chr1:150550221..150553114,4	K562	blood:
15	chr1:150447687..150449765-chr1:150457686..150459681,3	MCF-7	breast:
16	chr1:150455871..150459967-chr1:150528884..150531556,5	MCF-7	breast:
17	chr1:150458113..150460742-chr1:150599904..150603804,4	MCF-7	breast:
18	chr1:150335716..150337496-chr1:150457670..150459977,2	MCF-7	breast:
19	chr1:150458065..150461622-chr1:150486691..150490573,5	MCF-7	breast:
20	chr1:150458118..150461224-chr1:150521416..150523335,4	K562	blood:
21	chr1:150458161..150459880-chr1:150550348..150552555,2	MCF-7	breast:
22	chr1:150457583..150461907-chr1:150523895..150528793,6	MCF-7	breast:
23	chr1:150457162..150459509-chr1:150520340..150522663,2	MCF-7	breast:
24	chr1:150458453..150462100-chr1:150463666..150466292,4	K562	blood:
25	chr1:150458028..150460943-chr1:150462500..150464059,2	K562	blood:
26	chr1:150458473..150461317-chr1:150523404..150525508,2	MCF-7	breast:
27	chr1:150458426..150460384-chr1:150464250..150466250,2	K562	blood:
28	chr1:150459274..150461316-chr1:150480408..150482138,3	K562	blood:

No data

Variant related genes	Relation type
TARS2	TF binding region
ENSG00000228126	Chromatin interaction
ENSG00000170315	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000143369	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000237781	Chromatin interaction
ENSG00000007341	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv3353154	chr1:150459367-150459588	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150445800-150459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:150459000-150460200	Active TSS	Brain Hippocampus Middle	brain
3	chr1:150459200-150459600	Enhancers	Small Intestine	intestine
4	chr1:150459200-150460000	Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr1:150459200-150460000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:150459200-150460200	Active TSS	Psoas Muscle	Psoas
7	chr1:150459200-150460200	Active TSS	Thymus	Thymus
8	chr1:150459200-150460400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:150459200-150460400	Active TSS	Right Atrium	heart
10	chr1:150459200-150460600	Active TSS	Aorta	Aorta
11	chr1:150459200-150460600	Active TSS	GM12878-XiMat	blood
12	chr1:150459200-150460800	Active TSS	Fetal Brain Female	brain
13	chr1:150459400-150459600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:150459400-150459600	Active TSS	Adipose Nuclei	Adipose
15	chr1:150459400-150459800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr1:150459400-150460000	Active TSS	Primary monocytes fromperipheralblood	blood
17	chr1:150459400-150460000	Active TSS	Primary T cells fromperipheralblood	blood
18	chr1:150459400-150460000	Active TSS	Primary hematopoietic stem cells	blood
19	chr1:150459400-150460000	Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr1:150459400-150460000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr1:150459400-150460000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:150459400-150460000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:150459400-150460000	Active TSS	Liver	Liver
24	chr1:150459400-150460000	Bivalent/Poised TSS	HepG2	liver
25	chr1:150459400-150460000	Active TSS	HMEC	breast
26	chr1:150459400-150460000	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr1:150459400-150460200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:150459400-150460200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr1:150459400-150460200	Active TSS	Primary B cells from cord blood	blood
30	chr1:150459400-150460200	Active TSS	Primary B cells from peripheral blood	blood
31	chr1:150459400-150460200	Active TSS	Primary T cells from cord blood	blood
32	chr1:150459400-150460200	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr1:150459400-150460200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:150459400-150460200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:150459400-150460200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr1:150459400-150460200	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr1:150459400-150460200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:150459400-150460200	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr1:150459400-150460200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:150459400-150460200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:150459400-150460200	Active TSS	Brain Angular Gyrus	brain
42	chr1:150459400-150460200	Active TSS	Brain Anterior Caudate	brain
43	chr1:150459400-150460200	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr1:150459400-150460200	Active TSS	Brain Substantia Nigra	brain
45	chr1:150459400-150460200	Active TSS	Duodenum Mucosa	Duodenum
46	chr1:150459400-150460200	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:150459400-150460200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr1:150459400-150460200	Active TSS	Fetal Lung	lung
49	chr1:150459400-150460200	Active TSS	Fetal Muscle Leg	muscle
50	chr1:150459400-150460200	Active TSS	Placenta	Placenta

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