Variant report

Variant	rs148815648
Chromosome Location	chr1:154192399-154192400
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	POLR2A	chr1:154191956-154193567	GM12891	blood:	n/a	n/a
2	TBP	chr1:154192341-154193542	Hela-S3	cervix:	n/a	n/a
3	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
4	POLR2A	chr1:154192091-154194433	K562	blood:	n/a	n/a
5	POLR2A	chr1:154192263-154194664	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr1:154191926-154194626	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr1:154191823-154194934	IMR90	lung:	n/a	chr1:154193182-154193191
8	POLR2A	chr1:154191617-154194627	GM12892	blood:	n/a	n/a
9	CHD1	chr1:154191005-154195527	IMR90	lung:	n/a	n/a
10	POLR2A	chr1:154191603-154194164	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr1:154192351-154194433	U87	brain:	n/a	n/a
12	HEY1	chr1:154191909-154193672	HepG2	liver:	n/a	n/a
13	MAX	chr1:154191948-154192405	K562	blood:	n/a	n/a
14	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
15	POLR2A	chr1:154192291-154193579	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr1:154192087-154194475	K562	blood:	n/a	n/a
17	POLR2A	chr1:154191479-154194545	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:154191401-154194659	GM12878	blood:	n/a	n/a
19	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
20	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
21	POLR2A	chr1:154191862-154194176	HL-60	blood:	n/a	n/a
22	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
23	POLR2A	chr1:154192025-154194561	K562	blood:	n/a	n/a
24	MXI1	chr1:154191972-154194233	GM12878	blood:	n/a	chr1:154193182-154193191
25	POLR2A	chr1:154191976-154194307	Hela-S3	cervix:	n/a	n/a
26	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
27	WRNIP1	chr1:154191955-154193110	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:154191381-154195966	IMR90	lung:	n/a	n/a
29	POLR2A	chr1:154190224-154195227	MCF10A-Er-Src	breast:	n/a	n/a
30	YY1	chr1:154192261-154193503	H1-hESC	embryonic stem cell:	n/a	chr1:154193031-154193040 chr1:154193032-154193042 chr1:154193413-154193422 chr1:154193020-154193042 chr1:154193413-154193427
31	HCFC1	chr1:154190865-154194751	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr1:154192020-154193580	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr1:154192006-154192399	GM12891	blood:	n/a	n/a
34	POLR2A	chr1:154192040-154194340	K562	blood:	n/a	n/a
35	STAT5A	chr1:154192100-154193197	GM12878	blood:	n/a	n/a
36	TBP	chr1:154191936-154193569	HepG2	liver:	n/a	n/a
37	CHD1	chr1:154191914-154194513	GM12878	blood:	n/a	n/a
38	TAF1	chr1:154192387-154194278	ECC-1	luminal epithelium:	n/a	n/a
39	IRF1	chr1:154191602-154193563	K562	blood:	n/a	chr1:154191829-154191838 chr1:154192450-154192464
40	MAX	chr1:154191941-154194514	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
41	GABPA	chr1:154192339-154193473	MCF-7	breast:	n/a	n/a
42	POLR2A	chr1:154190389-154192582	K562	blood:	n/a	n/a
43	MAX	chr1:154191963-154194267	NB4	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
44	MYC	chr1:154191714-154193818	MCF10A-Er-Src	breast:	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
45	POLR2A	chr1:154192016-154194558	Hela-S3	cervix:	n/a	n/a
46	RFX5	chr1:154191694-154192440	K562	blood:	n/a	n/a
47	IRF1	chr1:154191366-154193554	K562	blood:	n/a	chr1:154191829-154191838 chr1:154192450-154192464
48	MYC	chr1:154192006-154194228	Hela-S3	cervix:	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	NR2F2	chr1:154191966-154193429	K562	blood:	n/a	n/a
50	POLR2A	chr1:154190805-154194605	PANC-1	pancreas:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154192352-154192402	BJ	skin:	n/a
2	chr1:154192352-154192402	T-47D	breast:	n/a
3	chr1:154192370-154192420	MCF-7	breast:	n/a
4	chr1:154192370-154192420	BE2_C	brain:	n/a
5	chr1:154192352-154192402	HepG2	liver:	n/a
6	chr1:154192352-154192402	PrEC	prostate:	n/a
7	chr1:154192370-154192420	SAEC	small airway:	n/a
8	chr1:154192352-154192402	MCF10A-Er-Src	breast:	n/a
9	chr1:154192352-154192402	GM12878	blood:	n/a
10	chr1:154192352-154192402	AG10803	skin:	n/a
11	chr1:154192352-154192402	PANC-1	pancreas:	n/a
12	chr1:154192370-154192420	NHBE	bronchial:	n/a
13	chr1:154192370-154192420	NH-A	brain:	n/a
14	chr1:154192370-154192420	ovcar-3	ovarian:	n/a
15	chr1:154192370-154192420	LNCaP	prostate:	n/a
16	chr1:154192352-154192402	Caco-2	colon:	n/a
17	chr1:154192352-154192402	GM06990	blood:	n/a
18	chr1:154192370-154192420	NHDF-neo	bronchial:	n/a
19	chr1:154192370-154192420	GM12878	blood:	n/a
20	chr1:154192370-154192420	AoSMC	blood vessel:	n/a
21	chr1:154192370-154192420	PrEC	prostate:	n/a
22	chr1:154192352-154192402	ovcar-3	ovarian:	n/a
23	chr1:154192370-154192420	GM06990	blood:	n/a
24	chr1:154192370-154192420	AG04449	skin:	fetal
25	chr1:154192370-154192420	AG04450	lung:	fetal
26	chr1:154192370-154192420	MCF10A-Er-Src	breast:	n/a
27	chr1:154192352-154192402	NHDF-neo	bronchial:	n/a
28	chr1:154192370-154192420	AG09309	skin:	n/a
29	chr1:154192370-154192420	HCT-116	colon:	n/a
30	chr1:154192370-154192420	NT2-D1	testis:	n/a
31	chr1:154192370-154192420	HRE	kidney:	n/a
32	chr1:154192352-154192402	HRPEpiC	eye:	n/a
33	chr1:154192370-154192420	Hepatocyte	liver:	n/a
34	chr1:154192352-154192402	GM12892	blood:	n/a
35	chr1:154192352-154192402	HEEpiC	esophagus:	n/a
36	chr1:154192370-154192420	SK-N-MC	brain:	n/a
37	chr1:154192352-154192402	CMK	blood:	n/a
38	chr1:154192352-154192402	HAEpiC	amniotic membrane:	n/a
39	chr1:154192352-154192402	AG09319	gingival:	n/a
40	chr1:154192370-154192420	HEK293	kidney:	embryo
41	chr1:154192352-154192402	HCF	heart:	n/a
42	chr1:154192370-154192420	Hela-S3	cervix:	n/a
43	chr1:154192370-154192420	AG09319	gingival:	n/a
44	chr1:154192352-154192402	K562	blood:	n/a
45	chr1:154192352-154192402	HCM	heart:	n/a
46	chr1:154192370-154192420	SK-N-SH_RA	brain:	n/a
47	chr1:154192352-154192402	AG09309	skin:	n/a
48	chr1:154192370-154192420	SK-N-SH	brain:	n/a
49	chr1:154192352-154192402	Jurkat	blood:	n/a
50	chr1:154192370-154192420	ProgFib	skin:	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
UBAP2L	CpG island
ENSG00000200997	Chromatin interaction
ENSG00000160714	Chromatin interaction
ENSG00000215938	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000163263	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000201129	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000163239	Chromatin interaction
ENSG00000143595	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000273026	Chromatin interaction
ENSG00000169291	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000198837	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000143570	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	chr1:154190400-154192400	Transcr. at gene 5' and 3'	K562	blood
2	chr1:154190800-154192400	Transcr. at gene 5' and 3'	A549	lung
3	chr1:154190800-154192400	Transcr. at gene 5' and 3'	NHEK	skin
4	chr1:154190800-154193000	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr1:154191000-154192400	Flanking Active TSS	Rectal Smooth Muscle	rectum
6	chr1:154191000-154192800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
7	chr1:154191000-154193000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
8	chr1:154191000-154193000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
9	chr1:154191200-154192400	Flanking Active TSS	HUVEC	blood vessel
10	chr1:154191400-154192400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:154191400-154192400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:154191400-154192400	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
13	chr1:154191400-154192400	Enhancers	Spleen	Spleen
14	chr1:154191400-154192600	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr1:154191400-154192600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr1:154191400-154192800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:154191400-154193000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr1:154191400-154193000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:154191400-154193000	Transcr. at gene 5' and 3'	Fetal Lung	lung
20	chr1:154191600-154192400	Flanking Active TSS	Liver	Liver
21	chr1:154191600-154192400	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr1:154191600-154192400	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr1:154191600-154192400	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr1:154191600-154192400	Flanking Active TSS	Fetal Brain Female	brain
25	chr1:154191600-154192400	Flanking Active TSS	Thymus	Thymus
26	chr1:154191600-154192600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:154191600-154192600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr1:154191600-154192600	Active TSS	Right Atrium	heart
29	chr1:154191600-154192600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr1:154191600-154192800	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr1:154191600-154194400	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr1:154191600-154194600	Active TSS	Fetal Intestine Large	intestine
33	chr1:154191600-154194600	Active TSS	Pancreas	Pancrea
34	chr1:154191600-154194800	Active TSS	H1 Cell Line	embryonic stem cell
35	chr1:154191600-154194800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:154191600-154194800	Active TSS	Left Ventricle	heart
37	chr1:154191600-154195000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:154191600-154195000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:154191600-154195000	Active TSS	Psoas Muscle	Psoas
40	chr1:154191600-154195200	Active TSS	Right Ventricle	heart
41	chr1:154191600-154195400	Active TSS	GM12878-XiMat	blood
42	chr1:154191800-154192400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:154191800-154192400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr1:154191800-154192400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr1:154191800-154192400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr1:154191800-154192400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:154191800-154192400	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr1:154191800-154192400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:154191800-154192400	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr1:154191800-154192400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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