Variant report

Variant	rs1924549
Chromosome Location	chr1:150208840-150208841
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:462)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr1:150207939-150209203	MCF-7	breast:	n/a	n/a
2	E2F4	chr1:150208258-150209107	K562	blood:	n/a	chr1:150208716-150208733
3	RELA	chr1:150207896-150209064	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:150208221-150209033	A549	lung:	n/a	n/a
5	RELA	chr1:150207960-150209008	GM10847	blood:	n/a	n/a
6	CTCF	chr1:150208780-150208930	AoAF	blood vessel:	n/a	n/a
7	POLR2A	chr1:150206581-150209771	GM12892	blood:	n/a	n/a
8	BCLAF1	chr1:150208060-150209037	GM12878	blood:	n/a	n/a
9	CTCF	chr1:150208780-150208930	HEK293	kidney:	n/a	n/a
10	POLR2A	chr1:150208013-150209062	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr1:150208820-150208970	AG04449	skin:	n/a	n/a
12	YY1	chr1:150208255-150209011	NT2-D1	testis:	n/a	n/a
13	CREB1	chr1:150208208-150209128	HepG2	liver:	n/a	n/a
14	YY1	chr1:150208803-150209057	K562	blood:	n/a	n/a
15	SIN3AK20	chr1:150208132-150209038	A549	lung:	n/a	n/a
16	YY1	chr1:150206817-150209054	GM12892	blood:	n/a	chr1:150207504-150207518 chr1:150207532-150207541 chr1:150207730-150207744 chr1:150207527-150207541 chr1:150207896-150207906 chr1:150207498-150207512
17	CREB1	chr1:150208130-150209003	A549	lung:	n/a	n/a
18	YY1	chr1:150208232-150208859	HCT-116	colon:	n/a	n/a
19	CTCF	chr1:150208780-150208930	MCF-7	breast:	n/a	n/a
20	NFYB	chr1:150208073-150209098	Hela-S3	cervix:	n/a	chr1:150208610-150208625
21	POLR2A	chr1:150207926-150209083	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr1:150208139-150209135	K562	blood:	n/a	n/a
23	MAX	chr1:150208251-150209091	GM12878	blood:	n/a	n/a
24	TAF1	chr1:150207861-150209071	Hela-S3	cervix:	n/a	n/a
25	MAX	chr1:150208081-150209237	MCF-7	breast:	n/a	n/a
26	CTCF	chr1:150208720-150208870	AG09309	skin:	n/a	n/a
27	POLR2A	chr1:150208113-150209040	NB4	blood:	n/a	n/a
28	MAX	chr1:150208005-150209279	MCF-7	breast:	n/a	chr1:150208066-150208075 chr1:150209270-150209279
29	CTCF	chr1:150208795-150209169	K562	blood:	n/a	n/a
30	SP2	chr1:150208265-150208967	HepG2	liver:	n/a	n/a
31	MAX	chr1:150208263-150209121	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr1:150208840-150208990	RPTEC	kidney:	n/a	n/a
33	CTCF	chr1:150208796-150209069	K562	blood:	n/a	n/a
34	PML	chr1:150206320-150209719	GM12878	blood:	n/a	chr1:150208068-150208077
35	STAT5A	chr1:150206218-150209018	GM12878	blood:	n/a	chr1:150206545-150206557 chr1:150206734-150206746
36	MAX	chr1:150208164-150209188	ECC-1	luminal epithelium:	n/a	n/a
37	TCF12	chr1:150208113-150208997	A549	lung:	n/a	n/a
38	MAX	chr1:150208191-150209204	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZNF143	chr1:150208413-150209010	H1-hESC	embryonic stem cell:	n/a	n/a
40	WRNIP1	chr1:150207858-150209031	GM12878	blood:	n/a	n/a
41	MAX	chr1:150208137-150209134	HepG2	liver:	n/a	n/a
42	CTCF	chr1:150208757-150208970	IMR90	lung:	n/a	n/a
43	POLR2A	chr1:150206691-150209688	K562	blood:	n/a	n/a
44	MAX	chr1:150208247-150209069	K562	blood:	n/a	n/a
45	ZC3H11A	chr1:150208174-150209125	K562	blood:	n/a	n/a
46	POLR2A	chr1:150206745-150209009	GM18526	blood:	n/a	n/a
47	CTCF	chr1:150208840-150208990	GM12869	blood:	n/a	n/a
48	POLR2A	chr1:150205972-150209097	HL-60	blood:	n/a	n/a
49	SP4	chr1:150208267-150209107	H1-hESC	embryonic stem cell:	n/a	n/a
50	MYC	chr1:150208813-150208999	MCF-7	breast:	n/a	n/a

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150121160..150123717-chr1:150206817..150209674,5	MCF-7	breast:
2	chr1:150208316..150209066-chr12:30948431..30948942,2	Hela-S3	cervix:
3	chr1:149980534..149984301-chr1:150205783..150209955,5	K562	blood:
4	chr1:150203436..150211066-chr1:150333611..150339492,20	K562	blood:
5	chr1:150207085..150210384-chr1:150292615..150294360,3	K562	blood:
6	chr1:150206810..150209611-chr1:150334795..150337634,4	MCF-7	breast:
7	chr1:149813762..149815954-chr1:150208161..150209740,2	MCF-7	breast:
8	chr1:150206756..150209738-chr9:130210680..130213113,2	MCF-7	breast:
9	chr1:150207577..150209396-chr1:150298898..150300845,2	MCF-7	breast:
10	chr1:150207289..150210046-chr1:150241185..150243177,3	MCF-7	breast:
11	chr1:150208031..150209020-chr12:122709773..122710769,2	Hela-S3	cervix:
12	chr1:150206345..150209742-chr1:150239312..150243074,6	K562	blood:
13	chr1:150205825..150209635-chr1:150259375..150267858,10	K562	blood:
14	chr1:150182307..150184946-chr1:150207119..150209000,2	K562	blood:
15	chr1:150206250..150210524-chr1:150335148..150338813,9	MCF-7	breast:
16	chr1:150205879..150210456-chr1:150251557..150256195,8	MCF-7	breast:
17	chr1:150204090..150209498-chr1:150239337..150243073,9	K562	blood:
18	chr1:149857476..149860799-chr1:150206355..150210783,8	K562	blood:
19	chr1:150206734..150209121-chr1:150233630..150237295,4	MCF-7	breast:
20	chr1:150208110..150208935-chrX:54209137..54209657,2	NB4	blood:
21	chr1:150207682..150210552-chr1:150291812..150294121,3	K562	blood:
22	chr1:150208240..150209093-chr16:87350794..87351612,2	Hela-S3	cervix:
23	chr1:150207177..150209173-chr1:150229648..150233094,4	MCF-7	breast:
24	chr1:149898390..149901293-chr1:150207723..150209690,2	K562	blood:
25	chr1:149857691..149860946-chr1:150205716..150209343,6	MCF-7	breast:
26	chr1:150208033..150208847-chr11:2950162..2950940,2	Hela-S3	cervix:
27	chr1:150206959..150209855-chr1:150291649..150295634,4	MCF-7	breast:
28	chr1:101361175..101361988-chr1:150208564..150209128,2	Hela-S3	cervix:
29	chr1:150207728..150209520-chr1:150239251..150240974,2	MCF-7	breast:
30	chr1:150198495..150205043-chr1:150206226..150211170,11	MCF-7	breast:
31	chr1:150121582..150124449-chr1:150206466..150208946,2	MCF-7	breast:
32	chr1:150205150..150208917-chr1:150946080..150950396,4	MCF-7	breast:
33	chr1:150206880..150209093-chr1:150235323..150238769,4	MCF-7	breast:
34	chr1:150205585..150209843-chr1:150227901..150231226,5	K562	blood:
35	chr1:149859430..149861518-chr1:150206960..150208858,2	MCF-7	breast:
36	chr1:150205053..150211036-chr1:150333116..150338498,15	K562	blood:
37	chr1:149858006..149859909-chr1:150206945..150210081,4	K562	blood:
38	chr1:150206579..150210456-chr1:150238390..150242863,9	MCF-7	breast:
39	chr1:150182307..150185860-chr1:150205787..150209000,3	K562	blood:

No data

Variant related genes	Relation type
ANP32E	TF binding region
RNU2-17P	TF binding region
ENSG00000184678	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000159208	Chromatin interaction
ENSG00000184083	Chromatin interaction
ENSG00000197958	Chromatin interaction
ENSG00000183558	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000162695	Chromatin interaction
ENSG00000266187	Chromatin interaction
ENSG00000270006	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000118298	Chromatin interaction
ENSG00000162694	Chromatin interaction
ENSG00000181649	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000260456	Chromatin interaction
ENSG00000117362	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000235884	Chromatin interaction
ENSG00000238526	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000187145	Chromatin interaction
ENSG00000117360	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000271845	Chromatin interaction
ENSG00000201302	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000220323	Chromatin interaction
ENSG00000118292	Chromatin interaction
ENSG00000023902	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10788872	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10888575	0.91[ASN][1000 genomes]
rs10888576	0.97[ASN][1000 genomes]
rs11205339	0.91[ASN][1000 genomes]
rs11205340	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11205341	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap]
rs11205343	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11205347	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11205348	0.97[ASN][1000 genomes]
rs11811787	0.96[ASN][1000 genomes]
rs12057558	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs12131063	0.91[ASN][1000 genomes]
rs12133235	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12133238	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs12569047	0.96[ASN][1000 genomes]
rs1535873	0.91[ASN][1000 genomes]
rs2038752	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2038753	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2298161	0.92[CEU][hapmap]
rs3118124	0.86[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs3121000	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3121001	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35938158	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4408187	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55647200	0.97[ASN][1000 genomes]
rs55956539	0.97[ASN][1000 genomes]
rs59507173	0.91[ASN][1000 genomes]
rs61161619	0.98[ASN][1000 genomes]
rs6587753	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6655935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660127	0.91[ASN][1000 genomes]
rs6665499	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6680040	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6682434	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6692738	0.86[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6694215	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6703332	0.90[ASN][1000 genomes]
rs7522034	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7532164	0.92[ASN][1000 genomes]
rs7535712	0.80[CHB][hapmap]
rs7548543	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7551023	0.91[ASN][1000 genomes]
rs7555995	0.96[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 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	chr1:150205800-150209000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:150205800-150209000	Active TSS	Left Ventricle	heart
3	chr1:150205800-150209400	Active TSS	Psoas Muscle	Psoas
4	chr1:150206000-150209000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:150206000-150209000	Active TSS	HMEC	breast
6	chr1:150206000-150209200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:150206000-150209200	Active TSS	Brain Angular Gyrus	brain
8	chr1:150206000-150209200	Active TSS	Brain Substantia Nigra	brain
9	chr1:150206000-150209400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:150206000-150209600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:150206200-150209000	Active TSS	Fetal Heart	heart
12	chr1:150206200-150209200	Active TSS	Fetal Brain Male	brain
13	chr1:150206200-150209200	Active TSS	HSMM	muscle
14	chr1:150206200-150209400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:150206200-150209400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr1:150206200-150209600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr1:150206200-150209600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:150206400-150209000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:150206400-150209000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:150206400-150209000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr1:150206400-150209000	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr1:150206400-150209000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:150206400-150209000	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr1:150206400-150209000	Active TSS	Small Intestine	intestine
25	chr1:150206400-150209200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:150206400-150209200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:150206400-150209200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:150206400-150209200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:150206400-150209200	Active TSS	Aorta	Aorta
30	chr1:150206400-150209200	Active TSS	Brain Anterior Caudate	brain
31	chr1:150206400-150209200	Active TSS	Fetal Lung	lung
32	chr1:150206400-150209200	Active TSS	Ovary	ovary
33	chr1:150206400-150209200	Active TSS	Right Ventricle	heart
34	chr1:150206400-150209200	Active TSS	A549	lung
35	chr1:150206400-150209200	Active TSS	NHDF-Ad	bronchial
36	chr1:150206400-150209200	Active TSS	NHLF	lung
37	chr1:150206400-150209400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:150206400-150209400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:150206400-150209400	Active TSS	Fetal Muscle Trunk	muscle
40	chr1:150206400-150209600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr1:150206400-150209600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:150206400-150209600	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr1:150206400-150209600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr1:150206400-150209800	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr1:150206600-150209000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:150206600-150209000	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr1:150206600-150209000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:150206600-150209000	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr1:150206600-150209000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:150206600-150209000	Active TSS	Fetal Brain Female	brain

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