Variant report

Variant	rs144229948
Chromosome Location	chr15:58623839-58623840
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	POLR2A	chr15:58623145-58625738	HepG2	liver:	n/a	n/a
2	EP300	chr15:58623552-58624775	Hela-S3	cervix:	n/a	chr15:58623911-58623925 chr15:58623868-58623882
3	POLR2A	chr15:58623397-58625260	Hela-S3	cervix:	n/a	n/a
4	SIX5	chr15:58623759-58625939	A549	lung:	n/a	chr15:58624197-58624206
5	MYC	chr15:58623756-58623995	MCF10A-Er-Src	breast:	n/a	n/a
6	SPI1	chr15:58623829-58624078	K562	blood:	n/a	chr15:58623947-58623960
7	JUND	chr15:58623608-58625267	SK-N-SH	brain:	n/a	chr15:58624540-58624549 chr15:58624538-58624550 chr15:58624538-58624549 chr15:58624543-58624551
8	ATF3	chr15:58623771-58625197	K562	blood:	n/a	n/a
9	FOS	chr15:58623732-58624761	MCF10A-Er-Src	breast:	n/a	chr15:58624540-58624549 chr15:58624538-58624550 chr15:58624538-58624549 chr15:58624543-58624551
10	ELK1	chr15:58623690-58624834	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr15:58622930-58625028	Hela-S3	cervix:	n/a	chr15:58623913-58623926
12	JUND	chr15:58623659-58625605	K562	blood:	n/a	chr15:58624540-58624549 chr15:58625437-58625445 chr15:58625437-58625444 chr15:58624538-58624550 chr15:58624538-58624549 chr15:58624543-58624551
13	TEAD4	chr15:58623708-58625486	K562	blood:	n/a	chr15:58623903-58623912
14	USF2	chr15:58623172-58625082	Hela-S3	cervix:	n/a	n/a
15	MAZ	chr15:58623137-58624773	Hela-S3	cervix:	n/a	n/a
16	EP300	chr15:58623741-58626031	A549	lung:	n/a	chr15:58625410-58625420 chr15:58625314-58625323 chr15:58623911-58623925 chr15:58623868-58623882
17	ELF1	chr15:58623832-58624856	K562	blood:	n/a	n/a
18	POLR2A	chr15:58623624-58624890	U87	brain:	n/a	n/a
19	TEAD4	chr15:58623708-58625102	K562	blood:	n/a	chr15:58623903-58623912
20	IRF3	chr15:58623724-58624876	Hela-S3	cervix:	n/a	chr15:58624151-58624160
21	POLR2A	chr15:58623757-58625029	U87	brain:	n/a	n/a
22	MAX	chr15:58623664-58624875	NB4	blood:	n/a	n/a
23	SP1	chr15:58623796-58625954	A549	lung:	n/a	chr15:58624213-58624227 chr15:58625601-58625608
24	CEBPB	chr15:58623524-58625784	A549	lung:	n/a	chr15:58623913-58623926
25	TEAD4	chr15:58623627-58624792	HepG2	liver:	n/a	chr15:58623903-58623912
26	KAP1	chr15:58623787-58624994	U2OS	brain:	n/a	chr15:58624541-58624550
27	SP1	chr15:58623656-58626204	A549	lung:	n/a	chr15:58624213-58624227 chr15:58625601-58625608
28	EP300	chr15:58623543-58625492	K562	blood:	n/a	chr15:58625410-58625420 chr15:58625314-58625323 chr15:58623911-58623925 chr15:58623868-58623882
29	POLR2A	chr15:58623812-58625270	MCF10A-Er-Src	breast:	n/a	n/a
30	IRF1	chr15:58623660-58624883	K562	blood:	n/a	chr15:58624151-58624160
31	RFX5	chr15:58623470-58624985	Hela-S3	cervix:	n/a	chr15:58623516-58623529
32	BCL3	chr15:58623798-58625792	A549	lung:	n/a	chr15:58624221-58624230
33	MXI1	chr15:58623423-58624819	Hela-S3	cervix:	n/a	n/a
34	TCF7L2	chr15:58622035-58625239	Hela-S3	cervix:	n/a	chr15:58622363-58622377 chr15:58625135-58625149 chr15:58624540-58624549 chr15:58625137-58625146 chr15:58625138-58625148
35	GATA3	chr15:58623518-58623901	MCF-7	breast:	n/a	n/a
36	STAT3	chr15:58623736-58624961	MCF10A-Er-Src	breast:	n/a	n/a
37	SPI1	chr15:58623745-58624207	HL-60	blood:	n/a	chr15:58623947-58623960
38	IRF1	chr15:58623683-58625190	K562	blood:	n/a	chr15:58624151-58624160
39	REST	chr15:58623681-58624819	HL-60	blood:	n/a	chr15:58624467-58624487
40	RCOR1	chr15:58623183-58624780	Hela-S3	cervix:	n/a	n/a
41	SPI1	chr15:58623645-58624540	HL-60	blood:	n/a	chr15:58623947-58623960
42	TCF12	chr15:58623826-58625028	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr15:58623210-58624852	Hela-S3	cervix:	n/a	n/a
44	RCOR1	chr15:58623613-58625389	K562	blood:	n/a	n/a
45	REST	chr15:58623541-58626129	A549	lung:	n/a	chr15:58624467-58624487 chr15:58623598-58623608
46	MAX	chr15:58623634-58625877	A549	lung:	n/a	chr15:58625830-58625846
47	RAD21	chr15:58623466-58625568	Hela-S3	cervix:	n/a	chr15:58624698-58624711 chr15:58624621-58624633
48	STAT3	chr15:58623330-58625058	Hela-S3	cervix:	n/a	n/a
49	ZMIZ1	chr15:58623773-58625109	K562	blood:	n/a	n/a
50	ELF1	chr15:58623812-58624820	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:58622254..58626014-chr15:59062445..59064794,4	K562	blood:
2	chr15:58623181..58625459-chr15:58764481..58766715,2	MCF-7	breast:
3	chr15:58586503..58588375-chr15:58623839..58625540,2	K562	blood:

Variant related genes	Relation type
ALDH1A2	TF binding region
ENSG00000128918	Chromatin interaction
ENSG00000128923	Chromatin interaction
ENSG00000245975	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv904266	chr15:58580921-58689187	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv522166	chr15:58623408-58624328	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 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	chr15:58621200-58624000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:58621200-58624800	Enhancers	Primary T cells from cord blood	blood
3	chr15:58621400-58624200	Flanking Active TSS	Liver	Liver
4	chr15:58621400-58625200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr15:58621800-58624400	Enhancers	Fetal Kidney	kidney
6	chr15:58621800-58625400	Enhancers	Primary B cells from cord blood	blood
7	chr15:58622000-58624000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:58622000-58624000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr15:58622000-58624000	Enhancers	Stomach Smooth Muscle	stomach
10	chr15:58622000-58624200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr15:58622000-58624400	Flanking Active TSS	Hela-S3	cervix
12	chr15:58622000-58624600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr15:58622000-58624600	Enhancers	Thymus	Thymus
14	chr15:58622000-58625000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr15:58622000-58625200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr15:58622000-58625200	Enhancers	Colonic Mucosa	Colon
17	chr15:58622000-58625400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr15:58622000-58625400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr15:58622000-58625400	Enhancers	Fetal Muscle Leg	muscle
20	chr15:58622000-58625400	Enhancers	Fetal Thymus	thymus
21	chr15:58622000-58625400	Flanking Active TSS	HepG2	liver
22	chr15:58622000-58625600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:58622000-58625600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr15:58622000-58625800	Enhancers	Esophagus	oesophagus
25	chr15:58622000-58626000	Enhancers	Fetal Stomach	stomach
26	chr15:58622000-58626000	Enhancers	Left Ventricle	heart
27	chr15:58622000-58626000	Enhancers	Pancreas	Pancrea
28	chr15:58622000-58626000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr15:58622000-58626000	Enhancers	Right Atrium	heart
30	chr15:58622000-58627200	Enhancers	Placenta	Placenta
31	chr15:58622200-58624000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:58622200-58624000	Enhancers	Brain Cingulate Gyrus	brain
33	chr15:58622200-58624000	Enhancers	Brain Hippocampus Middle	brain
34	chr15:58622200-58624000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr15:58622200-58624600	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr15:58622200-58625200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr15:58622200-58625200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr15:58622200-58625200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr15:58622200-58625200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:58622200-58625400	Enhancers	NHEK	skin
41	chr15:58622200-58625600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr15:58622200-58625600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr15:58622200-58625600	Enhancers	Stomach Mucosa	stomach
44	chr15:58622200-58625600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr15:58622200-58625800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:58622200-58625800	Enhancers	Fetal Heart	heart
47	chr15:58622200-58625800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr15:58622200-58626000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr15:58622200-58626000	Enhancers	Fetal Intestine Large	intestine
50	chr15:58622400-58624000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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