Variant report

Variant	rs561467028
Chromosome Location	chr1:154193050-154193051
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	ELF1	chr1:154192805-154193480	HepG2	liver:	n/a	chr1:154193156-154193167 chr1:154193155-154193168
2	TEAD4	chr1:154192458-154193471	K562	blood:	n/a	n/a
3	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
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	ZBTB33	chr1:154192831-154193367	A549	lung:	n/a	n/a
9	POLR2A	chr1:154192561-154194235	GM15510	blood:	n/a	n/a
10	YY1	chr1:154192696-154193357	GM12891	blood:	n/a	chr1:154193031-154193040 chr1:154193032-154193042 chr1:154193020-154193042
11	TBP	chr1:154192341-154193542	Hela-S3	cervix:	n/a	n/a
12	TBP	chr1:154192648-154193540	GM12878	blood:	n/a	n/a
13	HA-E2F1	chr1:154192827-154193567	Hela-S3	cervix:	n/a	chr1:154193213-154193222 chr1:154193413-154193422
14	PAX5	chr1:154192776-154193609	GM12892	blood:	n/a	n/a
15	ATF3	chr1:154192887-154193322	H1-hESC	embryonic stem cell:	n/a	n/a
16	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
17	TAF1	chr1:154192453-154194117	K562	blood:	n/a	n/a
18	TCF12	chr1:154192404-154194524	A549	lung:	n/a	chr1:154193078-154193088
19	ZNF143	chr1:154192769-154193298	K562	blood:	n/a	n/a
20	POLR2A	chr1:154192091-154194433	K562	blood:	n/a	n/a
21	TCF12	chr1:154192985-154193205	H1-hESC	embryonic stem cell:	n/a	chr1:154193078-154193088
22	SIN3AK20	chr1:154192874-154193509	PFSK-1	brain:	n/a	n/a
23	PML	chr1:154192409-154193245	K562	blood:	n/a	n/a
24	SP4	chr1:154192814-154193547	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr1:154192949-154193341	K562	blood:	n/a	n/a
26	POLR2A	chr1:154192263-154194664	HUVEC	blood vessel:	n/a	n/a
27	HCFC1	chr1:154192595-154194304	K562	blood:	n/a	n/a
28	E2F6	chr1:154192629-154193548	H1-hESC	embryonic stem cell:	n/a	chr1:154193213-154193222 chr1:154193413-154193422
29	POLR2A	chr1:154191926-154194626	Hela-S3	cervix:	n/a	n/a
30	ELK1	chr1:154192871-154193320	K562	blood:	n/a	n/a
31	SIN3AK20	chr1:154192570-154193564	MCF-7	breast:	n/a	n/a
32	SPI1	chr1:154192970-154193329	K562	blood:	n/a	chr1:154193159-154193166 chr1:154193158-154193167
33	GTF2B	chr1:154192722-154193540	K562	blood:	n/a	n/a
34	MXI1	chr1:154191823-154194934	IMR90	lung:	n/a	chr1:154193182-154193191
35	CREB1	chr1:154192479-154194590	HepG2	liver:	n/a	n/a
36	CREB1	chr1:154192982-154193422	A549	lung:	n/a	n/a
37	GTF2F1	chr1:154192713-154193488	Hela-S3	cervix:	n/a	n/a
38	SIN3AK20	chr1:154192469-154194240	PANC-1	pancreas:	n/a	n/a
39	EGR1	chr1:154192905-154193478	GM12878	blood:	n/a	chr1:154193277-154193286 chr1:154193209-154193223 chr1:154193267-154193276
40	REST	chr1:154192646-154193972	HL-60	blood:	n/a	chr1:154192923-154192936
41	SIX5	chr1:154192951-154193487	GM12878	blood:	n/a	n/a
42	BHLHE40	chr1:154192587-154194356	K562	blood:	n/a	chr1:154193398-154193411 chr1:154193400-154193409 chr1:154193400-154193409 chr1:154193401-154193410
43	FOS	chr1:154192949-154193433	MCF10A-Er-Src	breast:	n/a	chr1:154193096-154193104
44	POLR2A	chr1:154192467-154194323	NB4	blood:	n/a	n/a
45	POU2F2	chr1:154192666-154193522	GM12891	blood:	n/a	chr1:154192717-154192729
46	POLR2A	chr1:154191617-154194627	GM12892	blood:	n/a	n/a
47	CHD1	chr1:154191005-154195527	IMR90	lung:	n/a	n/a
48	YY1	chr1:154192682-154193415	HCT-116	colon:	n/a	chr1:154193031-154193040 chr1:154193032-154193042 chr1:154193020-154193042
49	POLR2A	chr1:154192531-154194240	Raji	blood:	n/a	n/a
50	STAT3	chr1:154192950-154193308	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154193039-154193089	GM12892	blood:	n/a
2	chr1:154193039-154193089	LNCaP	prostate:	n/a
3	chr1:154193039-154193089	AG04450	lung:	fetal
4	chr1:154193039-154193089	ECC-1	luminal epithelium:	n/a
5	chr1:154193039-154193089	GM06990	blood:	n/a
6	chr1:154193039-154193089	A549	lung:	n/a
7	chr1:154193039-154193089	HL-60	blood:	n/a
8	chr1:154193039-154193089	HCM	heart:	n/a
9	chr1:154193039-154193089	K562	blood:	n/a
10	chr1:154193039-154193089	NT2-D1	testis:	n/a
11	chr1:154193039-154193089	AG04449	skin:	fetal
12	chr1:154193039-154193089	HepG2	liver:	n/a
13	chr1:154193039-154193089	HAEpiC	amniotic membrane:	n/a
14	chr1:154193039-154193089	HRPEpiC	eye:	n/a
15	chr1:154193039-154193089	GM12878	blood:	n/a
16	chr1:154193039-154193089	NB4	blood:	n/a
17	chr1:154193039-154193089	IMR90	lung:	fetal
18	chr1:154193039-154193089	AoSMC	blood vessel:	n/a
19	chr1:154193039-154193089	NH-A	brain:	n/a
20	chr1:154193039-154193089	PFSK-1	brain:	n/a
21	chr1:154193039-154193089	Hepatocyte	liver:	n/a
22	chr1:154193039-154193089	SKMC	muscle:	n/a
23	chr1:154193039-154193089	HCF	heart:	n/a
24	chr1:154193039-154193089	ovcar-3	ovarian:	n/a
25	chr1:154193039-154193089	H1-hESC	embryonic stem cell:	embryo
26	chr1:154193039-154193089	PANC-1	pancreas:	n/a
27	chr1:154193039-154193089	HNPCEpiC	eye:	n/a
28	chr1:154193039-154193089	GM12891	blood:	n/a
29	chr1:154193039-154193089	GM19239	blood:	n/a
30	chr1:154193039-154193089	U87	brain:	n/a
31	chr1:154193039-154193089	AG10803	skin:	n/a
32	chr1:154193039-154193089	SK-N-SH	brain:	n/a
33	chr1:154193039-154193089	CMK	blood:	n/a
34	chr1:154193039-154193089	BE2_C	brain:	n/a
35	chr1:154193039-154193089	HRCEpiC	kidney:	n/a
36	chr1:154193039-154193089	NHDF-neo	bronchial:	n/a
37	chr1:154193039-154193089	SAEC	small airway:	n/a
38	chr1:154193039-154193089	Hela-S3	cervix:	n/a
39	chr1:154193039-154193089	PrEC	prostate:	n/a
40	chr1:154193039-154193089	MCF-7	breast:	n/a
41	chr1:154193039-154193089	NHBE	bronchial:	n/a
42	chr1:154193039-154193089	HRE	kidney:	n/a
43	chr1:154193039-154193089	T-47D	breast:	n/a
44	chr1:154193039-154193089	ProgFib	skin:	n/a
45	chr1:154193039-154193089	BJ	skin:	n/a
46	chr1:154193039-154193089	RPTEC	kidney:	n/a
47	chr1:154193039-154193089	HCPEpiC	choroid plexus:	n/a
48	chr1:154193039-154193089	HMEC	breast:	n/a
49	chr1:154193039-154193089	SK-N-MC	brain:	n/a
50	chr1:154193039-154193089	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154192739..154193244-chr5:40834885..40835603,2	Hela-S3	cervix:
2	chr1:154166360..154171923-chr1:154189576..154194577,9	K562	blood:
3	chr1:153916668..153920266-chr1:154191885..154196472,6	MCF-7	breast:
4	chr1:154153141..154174161-chr1:154187746..154196033,47	MCF-7	breast:
5	chr1:154191216..154193063-chr1:154472171..154474701,2	K562	blood:
6	chr1:154192604..154193245-chr14:54955393..54956122,2	Hela-S3	cervix:
7	chr1:154148286..154150697-chr1:154192561..154194921,2	MCF-7	breast:
8	chr1:154191996..154194542-chr1:154375833..154378809,3	MCF-7	breast:
9	chr1:154161421..154168420-chr1:154191340..154198003,13	MCF-7	breast:
10	chr1:154191694..154194971-chr1:154228810..154231860,3	K562	blood:
11	chr1:154151605..154157694-chr1:154191153..154195788,18	MCF-7	breast:
12	chr1:154191162..154194521-chr1:154529038..154532016,3	MCF-7	breast:
13	chr1:154191445..154194835-chr1:154242300..154245672,3	MCF-7	breast:
14	chr1:153936330..153941464-chr1:154191669..154195552,8	MCF-7	breast:
15	chr1:154191724..154193429-chr1:154244687..154246204,2	MCF-7	breast:
16	chr1:154149113..154161877-chr1:154185436..154196776,24	K562	blood:
17	chr1:154192034..154195055-chr1:154237858..154241372,4	MCF-7	breast:
18	chr1:154192341..154194171-chr1:155106625..155108137,2	MCF-7	breast:
19	chr1:154191694..154195364-chr1:154228810..154233315,6	K562	blood:
20	chr1:154190796..154197109-chr1:154207892..154217963,21	MCF-7	breast:
21	chr1:153961938..153967162-chr1:154189861..154195978,9	K562	blood:
22	chr1:154193004..154193840-chr7:139044298..139045165,2	Hela-S3	cervix:
23	chr1:154192363..154193240-chr17:56756354..56757067,2	Hela-S3	cervix:
24	chr1:154191842..154194909-chr1:154241050..154247826,7	K562	blood:
25	chr1:154192757..154194953-chr1:154301046..154303668,3	MCF-7	breast:
26	chr1:154153643..154157449-chr1:154190048..154195510,8	K562	blood:
27	chr1:154192820..154193810-chr5:90676348..90676889,2	Hela-S3	cervix:
28	chr1:154191464..154193287-chr1:154226993..154231169,3	MCF-7	breast:
29	chr1:154161897..154165113-chr1:154191510..154194039,3	K562	blood:
30	chr1:154177747..154182716-chr1:154190412..154196946,9	K562	blood:
31	chr1:154190385..154194245-chr1:155097625..155102022,4	MCF-7	breast:
32	chr1:154192524..154195187-chr1:154232740..154234753,2	MCF-7	breast:
33	chr1:154192785..154193749-chr3:12705163..12705859,2	Hela-S3	cervix:
34	chr1:154192113..154194391-chr1:154233712..154235867,2	MCF-7	breast:
35	chr1:154192079..154194850-chr1:154292071..154294843,2	K562	blood:
36	chr1:153939104..153942755-chr1:154191760..154194945,4	MCF-7	breast:
37	chr1:153962946..153964681-chr1:154191539..154193335,3	MCF-7	breast:

Variant related genes	Relation type
UBAP2L	TF binding region
C1orf43	TF binding region
UBAP2L	CpG island
C1orf43	CpG island
ENSG00000169291	Chromatin interaction
ENSG00000132155	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000273026	Chromatin interaction
ENSG00000143595	Chromatin interaction
ENSG00000160714	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000197045	Chromatin interaction
ENSG00000198837	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000146963	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000273391	Chromatin interaction
ENSG00000163263	Chromatin interaction
ENSG00000215938	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000163239	Chromatin interaction
ENSG00000201129	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000200997	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	chr1:154191600-154194400	Active TSS	Sigmoid Colon	Sigmoid Colon
2	chr1:154191600-154194600	Active TSS	Fetal Intestine Large	intestine
3	chr1:154191600-154194600	Active TSS	Pancreas	Pancrea
4	chr1:154191600-154194800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr1:154191600-154194800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:154191600-154194800	Active TSS	Left Ventricle	heart
7	chr1:154191600-154195000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:154191600-154195000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:154191600-154195000	Active TSS	Psoas Muscle	Psoas
10	chr1:154191600-154195200	Active TSS	Right Ventricle	heart
11	chr1:154191600-154195400	Active TSS	GM12878-XiMat	blood
12	chr1:154191800-154193200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:154191800-154194400	Active TSS	Fetal Intestine Small	intestine
14	chr1:154191800-154194400	Active TSS	NH-A	brain
15	chr1:154191800-154194600	Active TSS	Aorta	Aorta
16	chr1:154191800-154194800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:154191800-154194800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:154191800-154194800	Active TSS	Fetal Muscle Trunk	muscle
19	chr1:154191800-154195000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:154191800-154195000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:154191800-154195000	Active TSS	NHDF-Ad	bronchial
22	chr1:154191800-154195200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr1:154191800-154195200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:154191800-154195400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:154191800-154195400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr1:154191800-154195600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:154192000-154194200	Active TSS	Colonic Mucosa	Colon
28	chr1:154192000-154194400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:154192000-154194400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:154192000-154194400	Active TSS	Small Intestine	intestine
31	chr1:154192000-154194600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:154192000-154194600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:154192000-154194600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr1:154192000-154194600	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr1:154192000-154194600	Active TSS	Esophagus	oesophagus
36	chr1:154192000-154194600	Active TSS	HSMM	muscle
37	chr1:154192000-154194800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:154192000-154194800	Active TSS	Lung	lung
39	chr1:154192000-154195000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:154192000-154195000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:154192000-154195200	Active TSS	Ovary	ovary
42	chr1:154192000-154195400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:154192200-154194200	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr1:154192200-154194200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:154192200-154194200	Active TSS	Fetal Stomach	stomach
46	chr1:154192200-154194200	Active TSS	Stomach Mucosa	stomach
47	chr1:154192200-154194400	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr1:154192200-154194400	Active TSS	Brain Anterior Caudate	brain
49	chr1:154192200-154194400	Active TSS	Colon Smooth Muscle	Colon
50	chr1:154192200-154194600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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