Variant report

Variant	rs72692873
Chromosome Location	chr1:150022827-150022828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:176)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:176 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:150022680-150022830	GM12870	blood:	n/a	n/a
2	CTCF	chr1:150022558-150022910	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr1:150022532-150022888	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr1:150022680-150022830	HA-sp	spinal cord:	n/a	n/a
5	CTCF	chr1:150022680-150022830	HRPEpiC	eye:	n/a	n/a
6	RAD21	chr1:150022525-150022939	HepG2	liver:	n/a	n/a
7	FOS	chr1:150022499-150022878	MCF10A-Er-Src	breast:	n/a	chr1:150022597-150022607 chr1:150022598-150022606 chr1:150022597-150022607 chr1:150022768-150022779 chr1:150022589-150022596
8	CTCF	chr1:150022543-150022963	GM12878	blood:	n/a	n/a
9	CTCF	chr1:150022642-150022923	Lung_OC	lung:	n/a	n/a
10	SMC3	chr1:150022538-150022942	HepG2	liver:	n/a	n/a
11	BRCA1	chr1:150022536-150022830	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr1:150022700-150022850	HRE	kidney:	n/a	n/a
13	CTCF	chr1:150022645-150022855	MCF-7	breast:	n/a	n/a
14	RAD21	chr1:150022604-150022878	K562	blood:	n/a	n/a
15	CTCF	chr1:150022700-150022850	GM06990	blood:	n/a	n/a
16	RAD21	chr1:150022435-150022947	IMR90	lung:	n/a	n/a
17	CTCF	chr1:150022616-150022879	GM12878	blood:	n/a	n/a
18	CTCF	chr1:150022720-150022870	GM12875	blood:	n/a	n/a
19	CTCF	chr1:150022720-150022870	AG09309	skin:	n/a	n/a
20	CTCF	chr1:150022680-150022830	GM12865	blood:	n/a	n/a
21	CTCF	chr1:150022491-150022969	T-47D	breast:	n/a	n/a
22	CTCF	chr1:150022619-150022873	Hela-S3	cervix:	n/a	n/a
23	RAD21	chr1:150022554-150022913	GM12878	blood:	n/a	n/a
24	CTCF	chr1:150022680-150022830	BJ	skin:	n/a	n/a
25	CEBPB	chr1:150022476-150022953	MCF-7	breast:	n/a	chr1:150022649-150022662 chr1:150022648-150022665 chr1:150022649-150022662
26	SMC3	chr1:150022571-150022922	K562	blood:	n/a	n/a
27	CTCF	chr1:150022700-150022850	RPTEC	kidney:	n/a	n/a
28	CTCF	chr1:150022740-150022890	WI-38	lung:	n/a	n/a
29	CTCF	chr1:150022700-150022850	HPF	lung:	n/a	n/a
30	CTCF	chr1:150022680-150022830	HVMF	connective:	n/a	n/a
31	STAT3	chr1:150022630-150022866	MCF10A-Er-Src	breast:	n/a	n/a
32	CTCF	chr1:150022626-150022966	K562	blood:	n/a	n/a
33	CTCF	chr1:150022680-150022830	Hela-S3	cervix:	n/a	n/a
34	RAD21	chr1:150022355-150022951	HCT-116	colon:	n/a	n/a
35	ZNF143	chr1:150022591-150022882	K562	blood:	n/a	n/a
36	JUND	chr1:150022619-150022881	H1-hESC	embryonic stem cell:	n/a	chr1:150022768-150022779
37	FOXA1	chr1:150022510-150022832	T-47D	breast:	n/a	n/a
38	BHLHE40	chr1:150022643-150022843	GM12878	blood:	n/a	n/a
39	CTCF	chr1:150022700-150022850	HCT-116	colon:	n/a	n/a
40	CTCF	chr1:150022700-150022850	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr1:150022467-150023000	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:150022650-150022834	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr1:150022680-150022830	NHLF	lung:	n/a	n/a
44	CTCF	chr1:150022656-150022828	Fibrobl	skin:	n/a	n/a
45	RAD21	chr1:150022379-150022900	ECC-1	luminal epithelium:	n/a	n/a
46	FOXA1	chr1:150022591-150022947	HepG2	liver:	n/a	n/a
47	ZNF143	chr1:150022590-150022896	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr1:150022700-150022850	NHEK	skin:	n/a	n/a
49	MYC	chr1:150022492-150022893	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr1:150022583-150022832	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149875657..149877242-chr1:150022210..150023854,2	K562	blood:
2	chr1:150019180..150020773-chr1:150021063..150023287,2	MCF-7	breast:
3	chr1:150017927..150020825-chr1:150022056..150024781,3	MCF-7	breast:
4	chr1:149858084..149861835-chr1:150019287..150023815,6	K562	blood:
5	chr1:149933269..149934631-chr1:150022302..150023872,9	MCF-7	breast:
6	chr1:149933676..149934376-chr1:150022343..150023190,2	K562	blood:
7	chr1:149856755..149861735-chr1:150014773..150024288,21	MCF-7	breast:
8	chr1:150020211..150024864-chr1:150037839..150041365,4	MCF-7	breast:
9	chr1:150020045..150025053-chr1:150028781..150033753,5	MCF-7	breast:
10	chr1:149911189..149913982-chr1:150022742..150024271,2	MCF-7	breast:
11	chr1:149932228..149936162-chr1:150020648..150023324,4	MCF-7	breast:
12	chr1:149933674..149935222-chr1:150022197..150023225,15	MCF-7	breast:
13	chr1:149949620..149952507-chr1:150022418..150024343,2	MCF-7	breast:
14	chr1:149858368..149864477-chr1:150018495..150024155,9	K562	blood:
15	chr1:149907286..149909583-chr1:150020946..150022948,2	K562	blood:
16	chr1:149938841..149939614-chr1:150022722..150023249,3	MCF-7	breast:
17	chr1:149855348..149862315-chr1:150015478..150024375,18	MCF-7	breast:
18	chr1:150022553..150024320-chr1:150157694..150159816,2	K562	blood:
19	chr1:149993776..149995889-chr1:150021300..150024191,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223945	TF binding region
ENSG00000184270	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000136631	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1044808	1.00[AFR][1000 genomes]
rs1046332	1.00[AFR][1000 genomes]
rs11548267	1.00[AFR][1000 genomes]
rs11576997	1.00[AFR][1000 genomes]
rs11577346	1.00[AFR][1000 genomes]
rs11580307	1.00[AFR][1000 genomes]
rs11584091	1.00[AFR][1000 genomes]
rs11584354	1.00[AFR][1000 genomes]
rs11584761	1.00[AFR][1000 genomes]
rs11587963	1.00[AFR][1000 genomes]
rs11588837	1.00[AFR][1000 genomes]
rs11589801	1.00[AFR][1000 genomes]
rs11591200	1.00[AFR][1000 genomes]
rs12138787	1.00[AFR][1000 genomes]
rs1349532	1.00[AFR][1000 genomes]
rs1376675	1.00[AFR][1000 genomes]
rs1382573	1.00[AFR][1000 genomes]
rs1451641	1.00[AFR][1000 genomes]
rs15931	1.00[AFR][1000 genomes]
rs1824849	1.00[AFR][1000 genomes]
rs1824850	1.00[AFR][1000 genomes]
rs28560140	1.00[AFR][1000 genomes]
rs34755378	1.00[AFR][1000 genomes]
rs55664407	1.00[AFR][1000 genomes]
rs55802315	1.00[AFR][1000 genomes]
rs55840680	1.00[AFR][1000 genomes]
rs55885412	1.00[AFR][1000 genomes]
rs56119131	1.00[AFR][1000 genomes]
rs56133109	1.00[AFR][1000 genomes]
rs56139516	1.00[AFR][1000 genomes]
rs56212907	1.00[AFR][1000 genomes]
rs56229803	1.00[AFR][1000 genomes]
rs56265028	1.00[AFR][1000 genomes]
rs56305459	1.00[AFR][1000 genomes]
rs56369603	1.00[AFR][1000 genomes]
rs56397877	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72692886	1.00[AFR][1000 genomes]
rs72692893	1.00[AFR][1000 genomes]
rs72692898	1.00[AFR][1000 genomes]
rs72692899	1.00[AFR][1000 genomes]
rs72692900	1.00[AFR][1000 genomes]
rs72694914	1.00[AFR][1000 genomes]
rs72694915	1.00[AFR][1000 genomes]
rs72694923	1.00[AFR][1000 genomes]
rs72694926	1.00[AFR][1000 genomes]
rs72694928	1.00[AFR][1000 genomes]
rs72694933	1.00[AFR][1000 genomes]
rs72694936	1.00[AFR][1000 genomes]
rs72694942	1.00[AFR][1000 genomes]
rs72694944	1.00[AFR][1000 genomes]
rs72694945	1.00[AFR][1000 genomes]
rs72694951	1.00[AFR][1000 genomes]
rs72694953	1.00[AFR][1000 genomes]
rs72694955	1.00[AMR][1000 genomes]
rs72694956	1.00[AFR][1000 genomes]
rs72694959	1.00[AFR][1000 genomes]
rs72694961	1.00[AFR][1000 genomes]
rs72694964	1.00[AFR][1000 genomes]
rs72694965	1.00[AFR][1000 genomes]
rs72694969	1.00[AFR][1000 genomes]
rs72694972	1.00[AFR][1000 genomes]
rs72694974	1.00[AFR][1000 genomes]
rs72694990	1.00[AFR][1000 genomes]
rs72708145	1.00[AFR][1000 genomes]
rs72708148	1.00[AFR][1000 genomes]
rs72708149	1.00[AFR][1000 genomes]
rs72708150	1.00[AFR][1000 genomes]
rs72708151	1.00[AFR][1000 genomes]
rs72708152	1.00[AFR][1000 genomes]
rs72708162	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases
2	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
3	nsv947321	chr1:150007387-150030042	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149996600-150037000	Weak transcription	Left Ventricle	heart
2	chr1:150016800-150024000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:150017600-150026200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:150017600-150037600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:150017800-150025800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:150017800-150026000	Weak transcription	Osteobl	bone
7	chr1:150018000-150031600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:150018000-150033400	Weak transcription	Fetal Stomach	stomach
9	chr1:150018200-150038600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:150018400-150024000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:150019400-150023200	Weak transcription	A549	lung
12	chr1:150021800-150023000	Enhancers	HepG2	liver
13	chr1:150022000-150023000	Enhancers	Liver	Liver
14	chr1:150022000-150023200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:150022200-150025800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:150022400-150023000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:150022400-150023000	Enhancers	Brain Anterior Caudate	brain
18	chr1:150022400-150023000	Enhancers	Brain Cingulate Gyrus	brain
19	chr1:150022600-150023000	Enhancers	Primary B cells from cord blood	blood
20	chr1:150022600-150023000	Enhancers	Adipose Nuclei	Adipose
21	chr1:150022600-150023400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:150022800-150023000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:150022800-150023000	Enhancers	Colon Smooth Muscle	Colon
24	chr1:150022800-150023400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:150022800-150023400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr1:150022800-150025800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:150022800-150025800	Weak transcription	GM12878-XiMat	blood
28	chr1:150022800-150032400	Weak transcription	Fetal Intestine Small	intestine
29	chr1:150022800-150037200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:150022800-150038600	Weak transcription	Brain Inferior Temporal Lobe	brain

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