Variant report

Variant	rs200230586
Chromosome Location	chr1:154192474-154192475
allele	A/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	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
3	POLR2A	chr1:154191956-154193567	GM12891	blood:	n/a	n/a
4	TAF1	chr1:154192411-154194152	A549	lung:	n/a	n/a
5	TBP	chr1:154192341-154193542	Hela-S3	cervix:	n/a	n/a
6	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
7	TAF1	chr1:154192453-154194117	K562	blood:	n/a	n/a
8	TCF12	chr1:154192404-154194524	A549	lung:	n/a	chr1:154193078-154193088
9	POLR2A	chr1:154192091-154194433	K562	blood:	n/a	n/a
10	PML	chr1:154192409-154193245	K562	blood:	n/a	n/a
11	POLR2A	chr1:154192263-154194664	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr1:154191926-154194626	Hela-S3	cervix:	n/a	n/a
13	MXI1	chr1:154191823-154194934	IMR90	lung:	n/a	chr1:154193182-154193191
14	SIN3AK20	chr1:154192469-154194240	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr1:154192467-154194323	NB4	blood:	n/a	n/a
16	POLR2A	chr1:154191617-154194627	GM12892	blood:	n/a	n/a
17	CHD1	chr1:154191005-154195527	IMR90	lung:	n/a	n/a
18	POLR2A	chr1:154191603-154194164	PFSK-1	brain:	n/a	n/a
19	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
20	POLR2A	chr1:154192351-154194433	U87	brain:	n/a	n/a
21	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
22	TCF12	chr1:154192474-154194177	ECC-1	luminal epithelium:	n/a	chr1:154193078-154193088
23	HEY1	chr1:154191909-154193672	HepG2	liver:	n/a	n/a
24	POLR2A	chr1:154192402-154193595	ECC-1	luminal epithelium:	n/a	n/a
25	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
26	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
27	POLR2A	chr1:154192432-154193534	GM12892	blood:	n/a	n/a
28	POLR2A	chr1:154192291-154193579	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr1:154192430-154194454	K562	blood:	n/a	n/a
30	EGR1	chr1:154192461-154192849	K562	blood:	n/a	chr1:154192720-154192733 chr1:154192721-154192732 chr1:154192719-154192734
31	YY1	chr1:154192474-154193529	K562	blood:	n/a	chr1:154193031-154193040 chr1:154193032-154193042 chr1:154193413-154193422 chr1:154193020-154193042 chr1:154193413-154193427
32	POLR2A	chr1:154192087-154194475	K562	blood:	n/a	n/a
33	YY1	chr1:154192453-154193352	GM12892	blood:	n/a	chr1:154193031-154193040 chr1:154193032-154193042 chr1:154193020-154193042
34	POLR2A	chr1:154191479-154194545	HepG2	liver:	n/a	n/a
35	POLR2A	chr1:154191401-154194659	GM12878	blood:	n/a	n/a
36	POLR2A	chr1:154192430-154194385	HL-60	blood:	n/a	n/a
37	MAX	chr1:154191921-154194367	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
38	MYC	chr1:154191948-154194569	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
39	POLR2A	chr1:154191862-154194176	HL-60	blood:	n/a	n/a
40	MAX	chr1:154191833-154194169	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 chr1:154193979-154193988 chr1:154193086-154193105 chr1:154193398-154193411 chr1:154193091-154193100
41	USF1	chr1:154192436-154194356	HCT-116	colon:	n/a	chr1:154193398-154193411 chr1:154193400-154193409 chr1:154193400-154193409 chr1:154193401-154193410 chr1:154193181-154193192
42	POLR2A	chr1:154192025-154194561	K562	blood:	n/a	n/a
43	MXI1	chr1:154191972-154194233	GM12878	blood:	n/a	chr1:154193182-154193191
44	POLR2A	chr1:154191976-154194307	Hela-S3	cervix:	n/a	n/a
45	SP1	chr1:154192329-154193931	A549	lung:	n/a	chr1:154193212-154193224 chr1:154193766-154193775 chr1:154193214-154193223 chr1:154193189-154193203 chr1:154193638-154193647 chr1:154193209-154193223 chr1:154193767-154193776 chr1:154193213-154193222 chr1:154193286-154193293 chr1:154193765-154193777 chr1:154193767-154193776 chr1:154193765-154193777 chr1:154193529-154193536 chr1:154192796-154192806 chr1:154192592-154192602 chr1:154193213-154193223
46	WRNIP1	chr1:154191955-154193110	GM12878	blood:	n/a	n/a
47	POLR2A	chr1:154191381-154195966	IMR90	lung:	n/a	n/a
48	POLR2A	chr1:154190224-154195227	MCF10A-Er-Src	breast:	n/a	n/a
49	YY1	chr1:154192443-154193552	GM12878	blood:	n/a	chr1:154193031-154193040 chr1:154193032-154193042 chr1:154193413-154193422 chr1:154193020-154193042 chr1:154193413-154193427
50	POLR2A	chr1:154192442-154193308	HUVEC	blood vessel:	n/a	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	chr1:154191996..154194542-chr1:154375833..154378809,3	MCF-7	breast:
6	chr1:154161421..154168420-chr1:154191340..154198003,13	MCF-7	breast:
7	chr1:154191694..154194971-chr1:154228810..154231860,3	K562	blood:
8	chr1:154151605..154157694-chr1:154191153..154195788,18	MCF-7	breast:
9	chr1:154191162..154194521-chr1:154529038..154532016,3	MCF-7	breast:
10	chr1:154191445..154194835-chr1:154242300..154245672,3	MCF-7	breast:
11	chr1:153936330..153941464-chr1:154191669..154195552,8	MCF-7	breast:
12	chr1:154191724..154193429-chr1:154244687..154246204,2	MCF-7	breast:
13	chr1:154149113..154161877-chr1:154185436..154196776,24	K562	blood:
14	chr1:154192034..154195055-chr1:154237858..154241372,4	MCF-7	breast:
15	chr1:154192341..154194171-chr1:155106625..155108137,2	MCF-7	breast:
16	chr1:154191694..154195364-chr1:154228810..154233315,6	K562	blood:
17	chr1:154190796..154197109-chr1:154207892..154217963,21	MCF-7	breast:
18	chr1:153961938..153967162-chr1:154189861..154195978,9	K562	blood:
19	chr1:154192363..154193240-chr17:56756354..56757067,2	Hela-S3	cervix:
20	chr1:154191842..154194909-chr1:154241050..154247826,7	K562	blood:
21	chr1:154153643..154157449-chr1:154190048..154195510,8	K562	blood:
22	chr1:154191464..154193287-chr1:154226993..154231169,3	MCF-7	breast:
23	chr1:154161897..154165113-chr1:154191510..154194039,3	K562	blood:
24	chr1:154177747..154182716-chr1:154190412..154196946,9	K562	blood:
25	chr1:154190385..154194245-chr1:155097625..155102022,4	MCF-7	breast:
26	chr1:154192113..154194391-chr1:154233712..154235867,2	MCF-7	breast:
27	chr1:154192079..154194850-chr1:154292071..154294843,2	K562	blood:
28	chr1:153939104..153942755-chr1:154191760..154194945,4	MCF-7	breast:
29	chr1:153962946..153964681-chr1:154191539..154193335,3	MCF-7	breast:

Variant related genes	Relation type
UBAP2L	TF binding region
ENSG00000177954	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000198837	Chromatin interaction
ENSG00000201129	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000200997	Chromatin interaction
ENSG00000160714	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000215938	Chromatin interaction
ENSG00000273026	Chromatin interaction
ENSG00000163263	Chromatin interaction
ENSG00000169291	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000143595	Chromatin interaction
ENSG00000163239	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000143569	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	chr1:154191400-154192600	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr1:154191400-154192600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr1:154191400-154192800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:154191400-154193000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr1:154191400-154193000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:154191400-154193000	Transcr. at gene 5' and 3'	Fetal Lung	lung
11	chr1:154191600-154192600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:154191600-154192600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr1:154191600-154192600	Active TSS	Right Atrium	heart
14	chr1:154191600-154192600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr1:154191600-154192800	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr1:154191600-154194400	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr1:154191600-154194600	Active TSS	Fetal Intestine Large	intestine
18	chr1:154191600-154194600	Active TSS	Pancreas	Pancrea
19	chr1:154191600-154194800	Active TSS	H1 Cell Line	embryonic stem cell
20	chr1:154191600-154194800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:154191600-154194800	Active TSS	Left Ventricle	heart
22	chr1:154191600-154195000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:154191600-154195000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:154191600-154195000	Active TSS	Psoas Muscle	Psoas
25	chr1:154191600-154195200	Active TSS	Right Ventricle	heart
26	chr1:154191600-154195400	Active TSS	GM12878-XiMat	blood
27	chr1:154191800-154192600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr1:154191800-154192600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:154191800-154192800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr1:154191800-154192800	Flanking Active TSS	Fetal Thymus	thymus
31	chr1:154191800-154193000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr1:154191800-154193000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:154191800-154193200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:154191800-154194400	Active TSS	Fetal Intestine Small	intestine
35	chr1:154191800-154194400	Active TSS	NH-A	brain
36	chr1:154191800-154194600	Active TSS	Aorta	Aorta
37	chr1:154191800-154194800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:154191800-154194800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:154191800-154194800	Active TSS	Fetal Muscle Trunk	muscle
40	chr1:154191800-154195000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:154191800-154195000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:154191800-154195000	Active TSS	NHDF-Ad	bronchial
43	chr1:154191800-154195200	Active TSS	H9 Cell Line	embryonic stem cell
44	chr1:154191800-154195200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:154191800-154195400	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr1:154191800-154195400	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr1:154191800-154195600	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr1:154192000-154192600	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr1:154192000-154192600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:154192000-154192800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links