Variant report

Variant	rs11799813
Chromosome Location	chr1:150335740-150335741
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	MAFK	chr1:150335671-150336825	K562	blood:	n/a	chr1:150336660-150336671
2	MAX	chr1:150335183-150338117	A549	lung:	n/a	n/a
3	CEBPB	chr1:150335726-150336454	ECC-1	luminal epithelium:	n/a	chr1:150335926-150335937 chr1:150335927-150335938 chr1:150335926-150335939 chr1:150335926-150335939
4	TAF1	chr1:150335224-150335793	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:150335376-150337688	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr1:150335689-150337504	K562	blood:	n/a	n/a
7	RCOR1	chr1:150335715-150337437	K562	blood:	n/a	n/a
8	ZMIZ1	chr1:150335644-150337584	K562	blood:	n/a	n/a
9	POLR2A	chr1:150335524-150335809	H1-hESC	embryonic stem cell:	n/a	n/a
10	HA-E2F1	chr1:150335229-150337611	MCF-7	breast:	n/a	chr1:150336443-150336452 chr1:150336610-150336619 chr1:150336154-150336163 chr1:150336802-150336817
11	MTA3	chr1:150335288-150336350	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:150335287-150338346	GM12878	blood:	n/a	n/a
13	BCL3	chr1:150335436-150337005	A549	lung:	n/a	chr1:150336024-150336033 chr1:150336349-150336358
14	MXI1	chr1:150335473-150338000	IMR90	lung:	n/a	n/a
15	POLR2A	chr1:150334972-150338412	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr1:150335679-150338276	Hela-S3	cervix:	n/a	n/a
17	IRF1	chr1:150335731-150336973	K562	blood:	n/a	chr1:150336336-150336350 chr1:150336023-150336037 chr1:150336023-150336033 chr1:150336019-150336033 chr1:150336592-150336606 chr1:150336025-150336034 chr1:150336800-150336814
18	GATA3	chr1:150335489-150337720	A549	lung:	n/a	chr1:150336543-150336552 chr1:150336082-150336099 chr1:150336044-150336054 chr1:150336081-150336090 chr1:150336038-150336048
19	TEAD4	chr1:150335714-150336553	K562	blood:	n/a	n/a
20	YY1	chr1:150335736-150337863	SK-N-SH	brain:	n/a	chr1:150336194-150336202 chr1:150336191-150336201 chr1:150336169-150336191 chr1:150336180-150336188
21	POLR2A	chr1:150335599-150337458	K562	blood:	n/a	n/a
22	TBL1XR1	chr1:150335662-150337031	GM12878	blood:	n/a	n/a
23	PML	chr1:150335368-150336985	K562	blood:	n/a	n/a
24	POLR2A	chr1:150335296-150338046	HUVEC	blood vessel:	n/a	n/a
25	CUX1	chr1:150335557-150336944	K562	blood:	n/a	n/a
26	POLR2A	chr1:150335485-150338133	HL-60	blood:	n/a	n/a
27	POLR2A	chr1:150335501-150337671	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:150335498-150337966	PBDE	blood:	n/a	n/a
29	TAF1	chr1:150335076-150337764	MCF-7	breast:	n/a	n/a
30	POLR2A	chr1:150335265-150338197	GM12878	blood:	n/a	n/a
31	ATF3	chr1:150335658-150336357	K562	blood:	n/a	n/a
32	CEBPB	chr1:150335580-150337455	MCF-7	breast:	n/a	chr1:150335926-150335937 chr1:150335927-150335938 chr1:150335926-150335939 chr1:150335926-150335939
33	POLR2A	chr1:150335674-150337495	U87	brain:	n/a	n/a
34	POLR2A	chr1:150335518-150337664	K562	blood:	n/a	n/a
35	E2F6	chr1:150335709-150337353	A549	lung:	n/a	chr1:150336443-150336452 chr1:150336610-150336619 chr1:150336154-150336163 chr1:150336802-150336817
36	POLR2A	chr1:150335651-150337555	K562	blood:	n/a	n/a
37	GATA1	chr1:150335599-150336978	PBDE	blood:	n/a	chr1:150336543-150336552 chr1:150336082-150336099 chr1:150336044-150336054 chr1:150336081-150336090 chr1:150336038-150336048
38	GABPA	chr1:150335117-150337596	MCF-7	breast:	n/a	chr1:150336439-150336453 chr1:150336609-150336620 chr1:150336153-150336162 chr1:150336153-150336167 chr1:150336442-150336453 chr1:150336153-150336164 chr1:150336611-150336620 chr1:150336155-150336164 chr1:150336442-150336456 chr1:150336609-150336623 chr1:150336442-150336451 chr1:150336150-150336164
39	BCLAF1	chr1:150335672-150337754	GM12878	blood:	n/a	chr1:150337465-150337474 chr1:150336024-150336033 chr1:150336349-150336358
40	POLR2A	chr1:150335737-150337576	HUVEC	blood vessel:	n/a	n/a
41	CREB1	chr1:150335740-150337439	HepG2	liver:	n/a	n/a
42	GATA2	chr1:150335525-150337001	SH-SY5Y	brain:	n/a	chr1:150336543-150336552 chr1:150336082-150336099 chr1:150336044-150336054 chr1:150336081-150336090 chr1:150336038-150336048
43	RELA	chr1:150335558-150338156	GM18505	blood:	n/a	chr1:150337464-150337473 chr1:150337945-150337954 chr1:150337464-150337473 chr1:150337945-150337954
44	CEBPB	chr1:150335443-150336905	A549	lung:	n/a	chr1:150335926-150335937 chr1:150335927-150335938 chr1:150335926-150335939 chr1:150335926-150335939
45	POLR2A	chr1:150335342-150337581	HUVEC	blood vessel:	n/a	n/a
46	HEY1	chr1:150335516-150337678	K562	blood:	n/a	n/a
47	ZC3H11A	chr1:150335589-150337345	K562	blood:	n/a	n/a
48	CEBPB	chr1:150335617-150337563	Hela-S3	cervix:	n/a	chr1:150335926-150335937 chr1:150335927-150335938 chr1:150335926-150335939 chr1:150335926-150335939
49	RCOR1	chr1:150335536-150336538	K562	blood:	n/a	n/a
50	POLR2A	chr1:150335720-150338075	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150309217..150316448-chr1:150334640..150338012,6	MCF-7	breast:
2	chr1:150292363..150295488-chr1:150335350..150339295,4	K562	blood:
3	chr1:150252847..150256677-chr1:150333609..150339009,8	MCF-7	breast:
4	chr1:150333992..150336700-chr17:56707364..56709269,2	MCF-7	breast:
5	chr1:150206250..150210524-chr1:150335148..150338813,9	MCF-7	breast:
6	chr1:150334615..150337675-chr1:150520446..150522631,3	K562	blood:
7	chr1:150252708..150255493-chr1:150334761..150336728,2	K562	blood:
8	chr1:150205053..150211036-chr1:150333116..150338498,15	K562	blood:
9	chr1:150291213..150297860-chr1:150334210..150339087,16	MCF-7	breast:
10	chr1:150334215..150336170-chr1:150458883..150461226,2	K562	blood:
11	chr1:150335627..150337411-chr1:150523310..150524923,2	K562	blood:
12	chr1:150265074..150268122-chr1:150334427..150338986,4	K562	blood:
13	chr1:150240799..150242755-chr1:150334348..150335863,2	MCF-7	breast:
14	chr1:150334566..150337465-chr1:150678330..150680323,3	K562	blood:
15	chr1:150263378..150268409-chr1:150334980..150339088,9	MCF-7	breast:
16	chr1:150206810..150209611-chr1:150334795..150337634,4	MCF-7	breast:
17	chr1:149857620..149859875-chr1:150334860..150337178,2	K562	blood:
18	chr1:150317407..150321765-chr1:150335542..150338670,5	MCF-7	breast:
19	chr1:150318464..150321936-chr1:150334221..150338705,5	MCF-7	breast:
20	chr1:150203436..150211066-chr1:150333611..150339492,20	K562	blood:
21	chr1:150335444..150338410-chr1:150897207..150899165,2	MCF-7	breast:
22	chr1:150335458..150336308-chr6:27860075..27860942,2	Hela-S3	cervix:
23	chr1:149856073..149860566-chr1:150334860..150339370,4	K562	blood:
24	chr1:150334947..150337371-chr1:150979446..150982037,2	K562	blood:
25	chr1:150335216..150336742-chr1:150529512..150532436,2	MCF-7	breast:
26	chr1:150335716..150337496-chr1:150457670..150459977,2	MCF-7	breast:
27	chr1:150334379..150337370-chr6:30710721..30713568,2	MCF-7	breast:
28	chr1:150315314..150317184-chr1:150334891..150337567,3	MCF-7	breast:
29	chr1:150291489..150302169-chr1:150333998..150340807,28	MCF-7	breast:
30	chr1:150292375..150296656-chr1:150333833..150339442,8	K562	blood:

Variant related genes	Relation type
RPRD2	TF binding region
ENSG00000143379	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000187145	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000143452	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000117360	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000117362	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000159208	Chromatin interaction
ENSG00000237781	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11800656	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801190	1.00[ASN][1000 genomes]
rs11801255	0.85[EUR][1000 genomes]
rs11802612	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11803448	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806171	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807119	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809332	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810419	1.00[CEU][hapmap];0.83[GIH][hapmap];0.91[TSI][hapmap]
rs12723364	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12724450	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs12729727	1.00[ASN][1000 genomes]
rs12730265	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733783	0.94[EUR][1000 genomes]
rs12735903	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12736584	1.00[ASN][1000 genomes]
rs12743761	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12745672	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12747619	1.00[CEU][hapmap]
rs12749958	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756583	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12759551	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28495360	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34001546	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs34233130	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34307322	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34347495	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448981	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34514406	1.00[ASN][1000 genomes]
rs34542152	1.00[ASN][1000 genomes]
rs34609268	1.00[ASN][1000 genomes]
rs34696422	0.85[EUR][1000 genomes]
rs34964511	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35094010	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35347210	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35437473	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35762205	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35839143	1.00[ASN][1000 genomes]
rs35935423	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56214117	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57323357	0.86[EUR][1000 genomes]
rs58427317	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58853199	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71515775	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622688	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622689	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622694	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622695	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622696	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622697	0.88[EUR][1000 genomes]
rs71622698	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622702	1.00[ASN][1000 genomes]
rs74124663	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74124686	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517003	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535275	1.00[ASN][1000 genomes]
rs7546610	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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	chr1:150305600-150336200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:150320200-150336200	Weak transcription	Gastric	stomach
3	chr1:150326200-150336000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:150327000-150336000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:150328000-150336000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:150330400-150335800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:150334800-150335800	Flanking Active TSS	K562	blood
8	chr1:150334800-150339800	Active TSS	Thymus	Thymus
9	chr1:150335000-150336400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:150335200-150335800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:150335200-150335800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:150335200-150335800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:150335200-150335800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr1:150335200-150335800	Flanking Active TSS	Placenta	Placenta
15	chr1:150335200-150335800	Flanking Active TSS	GM12878-XiMat	blood
16	chr1:150335200-150336000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr1:150335200-150336000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:150335200-150336000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr1:150335200-150336000	Flanking Active TSS	Dnd41	blood
20	chr1:150335200-150336000	Flanking Active TSS	Hela-S3	cervix
21	chr1:150335200-150336200	Active TSS	Brain Germinal Matrix	brain
22	chr1:150335200-150338400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:150335200-150339200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:150335200-150339200	Active TSS	Duodenum Mucosa	Duodenum
25	chr1:150335200-150339400	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:150335200-150339600	Active TSS	Stomach Smooth Muscle	stomach
27	chr1:150335400-150335800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:150335400-150335800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:150335400-150335800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:150335400-150335800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr1:150335400-150335800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr1:150335400-150335800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr1:150335400-150335800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr1:150335400-150335800	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr1:150335400-150335800	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr1:150335400-150335800	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr1:150335400-150335800	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr1:150335400-150335800	Flanking Active TSS	Fetal Brain Male	brain
39	chr1:150335400-150335800	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr1:150335400-150335800	Flanking Active TSS	Fetal Lung	lung
41	chr1:150335400-150335800	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr1:150335400-150335800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr1:150335400-150335800	Enhancers	HepG2	liver
44	chr1:150335400-150335800	Flanking Active TSS	HMEC	breast
45	chr1:150335400-150335800	Flanking Active TSS	HSMM	muscle
46	chr1:150335400-150335800	Flanking Active TSS	HSMMtube	muscle
47	chr1:150335400-150335800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr1:150335400-150335800	Flanking Active TSS	NH-A	brain
49	chr1:150335400-150335800	Flanking Active TSS	NHDF-Ad	bronchial
50	chr1:150335400-150335800	Flanking Active TSS	NHEK	skin

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