Variant report

Variant	rs182456089
Chromosome Location	chr1:154192668-154192669
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	TEAD4	chr1:154192458-154193471	K562	blood:	n/a	n/a
2	MAZ	chr1:154192632-154194334	GM12878	blood:	n/a	chr1:154193183-154193192 chr1:154193761-154193771 chr1:154193183-154193192 chr1:154193398-154193411 chr1:154193183-154193192 chr1:154193182-154193193 chr1:154193400-154193409 chr1:154193091-154193100 chr1:154193400-154193409 chr1:154193399-154193410 chr1:154193979-154193988 chr1:154193086-154193105 chr1:154193398-154193411 chr1:154193091-154193100
3	STAT3	chr1:154192599-154192690	MCF10A-Er-Src	breast:	n/a	n/a
4	YY1	chr1:154192468-154194171	GM12892	blood:	n/a	chr1:154193571-154193582 chr1:154193031-154193040 chr1:154193032-154193042 chr1:154193413-154193422 chr1:154193020-154193042 chr1:154193413-154193427
5	POLR2A	chr1:154191956-154193567	GM12891	blood:	n/a	n/a
6	TCF12	chr1:154192496-154193334	H1-hESC	embryonic stem cell:	n/a	chr1:154193078-154193088
7	TAF1	chr1:154192411-154194152	A549	lung:	n/a	n/a
8	POLR2A	chr1:154192561-154194235	GM15510	blood:	n/a	n/a
9	TBP	chr1:154192341-154193542	Hela-S3	cervix:	n/a	n/a
10	TBP	chr1:154192648-154193540	GM12878	blood:	n/a	n/a
11	MYC	chr1:154192040-154194368	K562	blood:	n/a	chr1:154193183-154193192 chr1:154193761-154193771 chr1:154193183-154193192 chr1:154193398-154193411 chr1:154193183-154193192 chr1:154193182-154193193 chr1:154193400-154193409 chr1:154193091-154193100 chr1:154193400-154193409 chr1:154193399-154193410 chr1:154193979-154193988 chr1:154193086-154193105 chr1:154193398-154193411 chr1:154193091-154193100
12	TAF1	chr1:154192453-154194117	K562	blood:	n/a	n/a
13	TCF12	chr1:154192404-154194524	A549	lung:	n/a	chr1:154193078-154193088
14	POLR2A	chr1:154192091-154194433	K562	blood:	n/a	n/a
15	PML	chr1:154192409-154193245	K562	blood:	n/a	n/a
16	POLR2A	chr1:154192263-154194664	HUVEC	blood vessel:	n/a	n/a
17	HCFC1	chr1:154192595-154194304	K562	blood:	n/a	n/a
18	E2F6	chr1:154192629-154193548	H1-hESC	embryonic stem cell:	n/a	chr1:154193213-154193222 chr1:154193413-154193422
19	POLR2A	chr1:154191926-154194626	Hela-S3	cervix:	n/a	n/a
20	SIN3AK20	chr1:154192570-154193564	MCF-7	breast:	n/a	n/a
21	MXI1	chr1:154191823-154194934	IMR90	lung:	n/a	chr1:154193182-154193191
22	CREB1	chr1:154192479-154194590	HepG2	liver:	n/a	n/a
23	SIN3AK20	chr1:154192469-154194240	PANC-1	pancreas:	n/a	n/a
24	REST	chr1:154192646-154193972	HL-60	blood:	n/a	chr1:154192923-154192936
25	BHLHE40	chr1:154192587-154194356	K562	blood:	n/a	chr1:154193398-154193411 chr1:154193400-154193409 chr1:154193400-154193409 chr1:154193401-154193410
26	POLR2A	chr1:154192467-154194323	NB4	blood:	n/a	n/a
27	POU2F2	chr1:154192666-154193522	GM12891	blood:	n/a	chr1:154192717-154192729
28	POLR2A	chr1:154191617-154194627	GM12892	blood:	n/a	n/a
29	CHD1	chr1:154191005-154195527	IMR90	lung:	n/a	n/a
30	POLR2A	chr1:154192531-154194240	Raji	blood:	n/a	n/a
31	POLR2A	chr1:154191603-154194164	PFSK-1	brain:	n/a	n/a
32	RUNX3	chr1:154192491-154194225	GM12878	blood:	n/a	n/a
33	YY1	chr1:154192478-154194000	HepG2	liver:	n/a	chr1:154193571-154193582 chr1:154193031-154193040 chr1:154193032-154193042 chr1:154193413-154193422 chr1:154193020-154193042 chr1:154193413-154193427
34	IRF1	chr1:154192570-154193537	K562	blood:	n/a	n/a
35	MAX	chr1:154192469-154194259	K562	blood:	n/a	chr1:154193183-154193192 chr1:154193761-154193771 chr1:154193183-154193192 chr1:154193398-154193411 chr1:154193183-154193192 chr1:154193182-154193193 chr1:154193400-154193409 chr1:154193091-154193100 chr1:154193400-154193409 chr1:154193399-154193410 chr1:154193979-154193988 chr1:154193086-154193105 chr1:154193398-154193411 chr1:154193091-154193100
36	REST	chr1:154192666-154193409	HepG2	liver:	n/a	chr1:154192923-154192936
37	NFIC	chr1:154192620-154193154	HepG2	liver:	n/a	n/a
38	POLR2A	chr1:154192351-154194433	U87	brain:	n/a	n/a
39	USF1	chr1:154192469-154193881	ECC-1	luminal epithelium:	n/a	chr1:154193398-154193411 chr1:154193400-154193409 chr1:154193400-154193409 chr1:154193401-154193410 chr1:154193181-154193192
40	TCF12	chr1:154192474-154194177	ECC-1	luminal epithelium:	n/a	chr1:154193078-154193088
41	HEY1	chr1:154191909-154193672	HepG2	liver:	n/a	n/a
42	YY1	chr1:154192613-154193379	NT2-D1	testis:	n/a	chr1:154193031-154193040 chr1:154193032-154193042 chr1:154193020-154193042
43	MAZ	chr1:154192642-154193827	HepG2	liver:	n/a	chr1:154193183-154193192 chr1:154193761-154193771 chr1:154193183-154193192 chr1:154193398-154193411 chr1:154193183-154193192 chr1:154193182-154193193 chr1:154193400-154193409 chr1:154193091-154193100 chr1:154193400-154193409 chr1:154193399-154193410 chr1:154193086-154193105 chr1:154193398-154193411 chr1:154193091-154193100
44	BCL3	chr1:154192546-154193287	A549	lung:	n/a	n/a
45	POLR2A	chr1:154192402-154193595	ECC-1	luminal epithelium:	n/a	n/a
46	YY1	chr1:154192625-154193443	K562	blood:	n/a	chr1:154193031-154193040 chr1:154193032-154193042 chr1:154193413-154193422 chr1:154193020-154193042 chr1:154193413-154193427
47	SMC3	chr1:154192664-154193466	Hela-S3	cervix:	n/a	n/a
48	MAX	chr1:154192068-154194068	A549	lung:	n/a	chr1:154193183-154193192 chr1:154193761-154193771 chr1:154193183-154193192 chr1:154193398-154193411 chr1:154193183-154193192 chr1:154193182-154193193 chr1:154193400-154193409 chr1:154193091-154193100 chr1:154193400-154193409 chr1:154193399-154193410 chr1:154193979-154193988 chr1:154193086-154193105 chr1:154193398-154193411 chr1:154193091-154193100
49	MAX	chr1:154192444-154194097	SK-N-SH	brain:	n/a	chr1:154193183-154193192 chr1:154193761-154193771 chr1:154193183-154193192 chr1:154193398-154193411 chr1:154193183-154193192 chr1:154193182-154193193 chr1:154193400-154193409 chr1:154193091-154193100 chr1:154193400-154193409 chr1:154193399-154193410 chr1:154193979-154193988 chr1:154193086-154193105 chr1:154193398-154193411 chr1:154193091-154193100
50	SMARCB1	chr1:154192590-154193474	Hela-S3	cervix:	n/a	chr1:154193095-154193104

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154192647-154192697	AG04449	skin:	fetal
2	chr1:154192647-154192697	AG09309	skin:	n/a
3	chr1:154192647-154192697	HUVEC	blood vessel:	n/a
4	chr1:154192647-154192697	NHDF-neo	bronchial:	n/a
5	chr1:154192647-154192697	PFSK-1	brain:	n/a
6	chr1:154192647-154192697	HRE	kidney:	n/a
7	chr1:154192647-154192697	Hela-S3	cervix:	n/a
8	chr1:154192647-154192697	Caco-2	colon:	n/a
9	chr1:154192647-154192697	SKMC	muscle:	n/a
10	chr1:154192647-154192697	K562	blood:	n/a
11	chr1:154192647-154192697	RPTEC	kidney:	n/a
12	chr1:154192647-154192697	A549	lung:	n/a
13	chr1:154192647-154192697	HEK293	kidney:	embryo
14	chr1:154192647-154192697	HCF	heart:	n/a
15	chr1:154192647-154192697	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:154192647-154192697	SK-N-SH_RA	brain:	n/a
17	chr1:154192647-154192697	SK-N-SH	brain:	n/a
18	chr1:154192647-154192697	PANC-1	pancreas:	n/a
19	chr1:154192647-154192697	GM12892	blood:	n/a
20	chr1:154192647-154192697	ovcar-3	ovarian:	n/a
21	chr1:154192647-154192697	HL-60	blood:	n/a
22	chr1:154192647-154192697	AG10803	skin:	n/a
23	chr1:154192647-154192697	GM12878	blood:	n/a
24	chr1:154192647-154192697	U87	brain:	n/a
25	chr1:154192647-154192697	HNPCEpiC	eye:	n/a
26	chr1:154192647-154192697	ECC-1	luminal epithelium:	n/a
27	chr1:154192647-154192697	BJ	skin:	n/a
28	chr1:154192647-154192697	Jurkat	blood:	n/a
29	chr1:154192647-154192697	AoSMC	blood vessel:	n/a
30	chr1:154192647-154192697	PrEC	prostate:	n/a
31	chr1:154192647-154192697	SK-N-MC	brain:	n/a
32	chr1:154192647-154192697	MCF-7	breast:	n/a
33	chr1:154192647-154192697	HCT-116	colon:	n/a
34	chr1:154192647-154192697	NT2-D1	testis:	n/a
35	chr1:154192647-154192697	IMR90	lung:	fetal
36	chr1:154192647-154192697	HCPEpiC	choroid plexus:	n/a
37	chr1:154192647-154192697	AG04450	lung:	fetal
38	chr1:154192647-154192697	MCF10A-Er-Src	breast:	n/a
39	chr1:154192647-154192697	SAEC	small airway:	n/a
40	chr1:154192647-154192697	HRCEpiC	kidney:	n/a
41	chr1:154192647-154192697	ProgFib	skin:	n/a
42	chr1:154192647-154192697	Hepatocyte	liver:	n/a
43	chr1:154192647-154192697	AG09319	gingival:	n/a
44	chr1:154192647-154192697	HRPEpiC	eye:	n/a
45	chr1:154192647-154192697	GM06990	blood:	n/a
46	chr1:154192647-154192697	T-47D	breast:	n/a
47	chr1:154192647-154192697	HCM	heart:	n/a
48	chr1:154192647-154192697	NHBE	bronchial:	n/a
49	chr1:154192647-154192697	HIPEpiC	eye:	n/a
50	chr1:154192647-154192697	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154166360..154171923-chr1:154189576..154194577,9	K562	blood:
2	chr1:153916668..153920266-chr1:154191885..154196472,6	MCF-7	breast:
3	chr1:154153141..154174161-chr1:154187746..154196033,47	MCF-7	breast:
4	chr1:154191216..154193063-chr1:154472171..154474701,2	K562	blood:
5	chr1:154192604..154193245-chr14:54955393..54956122,2	Hela-S3	cervix:
6	chr1:154148286..154150697-chr1:154192561..154194921,2	MCF-7	breast:
7	chr1:154191996..154194542-chr1:154375833..154378809,3	MCF-7	breast:
8	chr1:154161421..154168420-chr1:154191340..154198003,13	MCF-7	breast:
9	chr1:154191694..154194971-chr1:154228810..154231860,3	K562	blood:
10	chr1:154151605..154157694-chr1:154191153..154195788,18	MCF-7	breast:
11	chr1:154191162..154194521-chr1:154529038..154532016,3	MCF-7	breast:
12	chr1:154191445..154194835-chr1:154242300..154245672,3	MCF-7	breast:
13	chr1:153936330..153941464-chr1:154191669..154195552,8	MCF-7	breast:
14	chr1:154191724..154193429-chr1:154244687..154246204,2	MCF-7	breast:
15	chr1:154149113..154161877-chr1:154185436..154196776,24	K562	blood:
16	chr1:154192034..154195055-chr1:154237858..154241372,4	MCF-7	breast:
17	chr1:154192341..154194171-chr1:155106625..155108137,2	MCF-7	breast:
18	chr1:154191694..154195364-chr1:154228810..154233315,6	K562	blood:
19	chr1:154190796..154197109-chr1:154207892..154217963,21	MCF-7	breast:
20	chr1:153961938..153967162-chr1:154189861..154195978,9	K562	blood:
21	chr1:154192363..154193240-chr17:56756354..56757067,2	Hela-S3	cervix:
22	chr1:154191842..154194909-chr1:154241050..154247826,7	K562	blood:
23	chr1:154153643..154157449-chr1:154190048..154195510,8	K562	blood:
24	chr1:154191464..154193287-chr1:154226993..154231169,3	MCF-7	breast:
25	chr1:154161897..154165113-chr1:154191510..154194039,3	K562	blood:
26	chr1:154177747..154182716-chr1:154190412..154196946,9	K562	blood:
27	chr1:154190385..154194245-chr1:155097625..155102022,4	MCF-7	breast:
28	chr1:154192524..154195187-chr1:154232740..154234753,2	MCF-7	breast:
29	chr1:154192113..154194391-chr1:154233712..154235867,2	MCF-7	breast:
30	chr1:154192079..154194850-chr1:154292071..154294843,2	K562	blood:
31	chr1:153939104..153942755-chr1:154191760..154194945,4	MCF-7	breast:
32	chr1:153962946..153964681-chr1:154191539..154193335,3	MCF-7	breast:

Variant related genes	Relation type
UBAP2L	TF binding region
UBAP2L	CpG island
ENSG00000215938	Chromatin interaction
ENSG00000198837	Chromatin interaction
ENSG00000163239	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000143595	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000200997	Chromatin interaction
ENSG00000201129	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000197045	Chromatin interaction
ENSG00000169291	Chromatin interaction
ENSG00000160714	Chromatin interaction
ENSG00000273026	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000163263	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143612	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	esv3339331	chr1:154192353-154194901	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154190800-154193000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr1:154191000-154192800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr1:154191000-154193000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
4	chr1:154191000-154193000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
5	chr1:154191400-154192800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:154191400-154193000	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr1:154191400-154193000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:154191400-154193000	Transcr. at gene 5' and 3'	Fetal Lung	lung
9	chr1:154191600-154192800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr1:154191600-154194400	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr1:154191600-154194600	Active TSS	Fetal Intestine Large	intestine
12	chr1:154191600-154194600	Active TSS	Pancreas	Pancrea
13	chr1:154191600-154194800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr1:154191600-154194800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:154191600-154194800	Active TSS	Left Ventricle	heart
16	chr1:154191600-154195000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:154191600-154195000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:154191600-154195000	Active TSS	Psoas Muscle	Psoas
19	chr1:154191600-154195200	Active TSS	Right Ventricle	heart
20	chr1:154191600-154195400	Active TSS	GM12878-XiMat	blood
21	chr1:154191800-154192800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr1:154191800-154192800	Flanking Active TSS	Fetal Thymus	thymus
23	chr1:154191800-154193000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr1:154191800-154193000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:154191800-154193200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:154191800-154194400	Active TSS	Fetal Intestine Small	intestine
27	chr1:154191800-154194400	Active TSS	NH-A	brain
28	chr1:154191800-154194600	Active TSS	Aorta	Aorta
29	chr1:154191800-154194800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:154191800-154194800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:154191800-154194800	Active TSS	Fetal Muscle Trunk	muscle
32	chr1:154191800-154195000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:154191800-154195000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:154191800-154195000	Active TSS	NHDF-Ad	bronchial
35	chr1:154191800-154195200	Active TSS	H9 Cell Line	embryonic stem cell
36	chr1:154191800-154195200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:154191800-154195400	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr1:154191800-154195400	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:154191800-154195600	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr1:154192000-154192800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr1:154192000-154192800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:154192000-154192800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:154192000-154193000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr1:154192000-154194200	Active TSS	Colonic Mucosa	Colon
45	chr1:154192000-154194400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:154192000-154194400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:154192000-154194400	Active TSS	Small Intestine	intestine
48	chr1:154192000-154194600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:154192000-154194600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:154192000-154194600	Active TSS	iPS-18 Cell Line	embryonic stem cell

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