Variant report

Variant	rs7918726
Chromosome Location	chr10:43893347-43893348
allele	G/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	chr10:43892416-43893363	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr10:43888984-43898060	K562	blood:	n/a	n/a
3	PML	chr10:43890904-43893354	K562	blood:	n/a	chr10:43892974-43892982
4	POLR2A	chr10:43888974-43893678	K562	blood:	n/a	n/a
5	SIN3A	chr10:43891581-43893419	GM12878	blood:	n/a	chr10:43893061-43893071
6	IRF1	chr10:43890629-43893448	K562	blood:	n/a	chr10:43890760-43890771 chr10:43890761-43890773 chr10:43890761-43890775 chr10:43892837-43892846 chr10:43891401-43891415 chr10:43890762-43890776 chr10:43890758-43890772 chr10:43890761-43890773 chr10:43890762-43890772 chr10:43890761-43890774 chr10:43890761-43890774 chr10:43890761-43890772
7	POLR2A	chr10:43891121-43893663	GM18505	blood:	n/a	n/a
8	POLR2A	chr10:43891248-43893641	GM19099	blood:	n/a	n/a
9	TRIM28	chr10:43891028-43893373	K562	blood:	n/a	chr10:43892974-43892982
10	POLR2A	chr10:43890409-43895371	GM12892	blood:	n/a	n/a
11	POLR2A	chr10:43891002-43893998	K562	blood:	n/a	n/a
12	PML	chr10:43892326-43893805	K562	blood:	n/a	chr10:43892974-43892982
13	MYBL2	chr10:43892370-43893380	HepG2	liver:	n/a	n/a
14	MXI1	chr10:43890661-43893737	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr10:43891205-43893447	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr10:43893253-43895533	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr10:43890420-43895659	GM12892	blood:	n/a	n/a
18	POLR2A	chr10:43890684-43893366	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr10:43893307-43894385	K562	blood:	n/a	n/a
20	UBTF	chr10:43890992-43893675	K562	blood:	n/a	n/a
21	POLR2A	chr10:43890394-43893788	K562	blood:	n/a	n/a
22	POLR2A	chr10:43889701-43895042	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr10:43891158-43893839	GM12892	blood:	n/a	n/a
24	TEAD4	chr10:43892349-43893798	K562	blood:	n/a	n/a
25	ELF1	chr10:43891892-43893494	HCT-116	colon:	n/a	chr10:43892740-43892751
26	POLR2A	chr10:43893291-43895398	GM12891	blood:	n/a	n/a
27	ARID3A	chr10:43892798-43893411	K562	blood:	n/a	n/a
28	NFATC1	chr10:43892394-43893439	GM12878	blood:	n/a	n/a
29	JUN	chr10:43889590-43893444	K562	blood:	n/a	chr10:43892578-43892587 chr10:43892579-43892588 chr10:43889933-43889945 chr10:43892778-43892787
30	BCL3	chr10:43892530-43893390	K562	blood:	n/a	chr10:43892923-43892932 chr10:43892835-43892844 chr10:43892557-43892566 chr10:43893061-43893070 chr10:43892579-43892592
31	CREB1	chr10:43891094-43893465	K562	blood:	n/a	n/a
32	POLR2A	chr10:43893312-43893958	K562	blood:	n/a	n/a
33	MXI1	chr10:43891388-43893358	K562	blood:	n/a	n/a
34	POLR2A	chr10:43878581-43905107	K562	blood:	n/a	n/a
35	POLR2A	chr10:43890616-43893685	PBDE	blood:	n/a	n/a
36	POLR2A	chr10:43889012-43893820	HepG2	liver:	n/a	n/a
37	EP300	chr10:43892661-43893382	K562	blood:	n/a	chr10:43892742-43892751
38	POLR2A	chr10:43888933-43893781	GM12878	blood:	n/a	n/a
39	POLR2A	chr10:43893271-43895606	GM12892	blood:	n/a	n/a
40	MYC	chr10:43890955-43893647	K562	blood:	n/a	chr10:43892808-43892817 chr10:43892727-43892738
41	POLR2A	chr10:43891015-43896319	K562	blood:	n/a	n/a
42	POLR2A	chr10:43888975-43895565	GM12891	blood:	n/a	n/a
43	BCLAF1	chr10:43892516-43893671	K562	blood:	n/a	chr10:43892923-43892932 chr10:43892835-43892844 chr10:43892557-43892566 chr10:43893061-43893070 chr10:43892579-43892592
44	POLR2A	chr10:43891015-43893835	HL-60	blood:	n/a	n/a
45	POLR2A	chr10:43893257-43893768	HepG2	liver:	n/a	n/a
46	POLR2A	chr10:43890114-43894667	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr10:43893307-43894362	HepG2	liver:	n/a	n/a
48	POLR2A	chr10:43893317-43895466	GM12878	blood:	n/a	n/a
49	ZNF384	chr10:43891491-43893880	K562	blood:	n/a	n/a
50	MYC	chr10:43891067-43893645	K562	blood:	n/a	chr10:43892808-43892817 chr10:43892727-43892738

No.	Distal block	Cell Line	Cell type
1	chr10:43868700..43874062-chr10:43890607..43893448,6	MCF-7	breast:
2	chr10:43892832..43893757-chr10:43901832..43902783,2	MCF-7	breast:
3	chr10:43696369..43700743-chr10:43891529..43894634,3	K562	blood:
4	chr10:43697420..43700683-chr10:43890424..43894292,4	K562	blood:
5	chr10:43889891..43893674-chr10:43930869..43934431,5	MCF-7	breast:
6	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:

Variant related genes	Relation type
HNRNPF	TF binding region
ENSG00000243660	Chromatin interaction
ENSG00000198915	Chromatin interaction
ENSG00000252532	Chromatin interaction
ENSG00000150201	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10732897	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10793430	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793431	0.99[ASN][1000 genomes]
rs10899798	0.99[ASN][1000 genomes]
rs10899799	0.99[ASN][1000 genomes]
rs11238542	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1126487	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1126709	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1416226	0.99[ASN][1000 genomes]
rs2066043	0.96[ASN][1000 genomes]
rs2066044	0.96[ASN][1000 genomes]
rs2247860	0.94[ASN][1000 genomes]
rs2248332	0.89[ASN][1000 genomes]
rs2248335	0.94[ASN][1000 genomes]
rs2248469	0.94[ASN][1000 genomes]
rs2248706	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2252783	0.99[ASN][1000 genomes]
rs2252785	0.99[ASN][1000 genomes]
rs2252804	0.86[ASN][1000 genomes]
rs2256495	0.96[ASN][1000 genomes]
rs2256613	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2259045	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2260162	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2260200	0.91[ASN][1000 genomes]
rs2261665	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2265886	0.91[ASN][1000 genomes]
rs2265954	0.91[ASN][1000 genomes]
rs2393954	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2492403	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2492405	0.91[ASN][1000 genomes]
rs2492408	0.93[ASN][1000 genomes]
rs2492409	0.94[ASN][1000 genomes]
rs2492410	0.94[ASN][1000 genomes]
rs2492411	0.94[ASN][1000 genomes]
rs2492412	0.91[ASN][1000 genomes]
rs2493648	0.90[ASN][1000 genomes]
rs2812797	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2819021	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2819026	0.91[ASN][1000 genomes]
rs2999276	0.99[ASN][1000 genomes]
rs2999282	0.96[ASN][1000 genomes]
rs2999287	0.86[ASN][1000 genomes]
rs3000708	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3006408	0.83[ASN][1000 genomes]
rs3750890	0.83[ASN][1000 genomes]
rs4367906	0.80[EUR][1000 genomes]
rs4551711	0.91[ASN][1000 genomes]
rs4559639	0.90[ASN][1000 genomes]
rs4584528	0.91[ASN][1000 genomes]
rs4597022	0.99[ASN][1000 genomes]
rs56407131	0.81[EUR][1000 genomes]
rs6421744	0.83[ASN][1000 genomes]
rs7069214	0.91[ASN][1000 genomes]
rs7070769	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7081729	0.86[ASN][1000 genomes]
rs7089290	0.82[ASN][1000 genomes]
rs7092599	0.99[ASN][1000 genomes]
rs7894374	0.99[ASN][1000 genomes]
rs7905676	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7914140	0.80[ASN][1000 genomes]
rs7920539	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9422371	0.83[ASN][1000 genomes]
rs9422512	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825355	chr10:43890579-43923802	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	esv3387789	chr10:43891371-43893919	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 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	chr10:43890400-43893600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:43890800-43893400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:43890800-43893400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:43891000-43893400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:43891000-43893400	Active TSS	Fetal Intestine Large	intestine
6	chr10:43891000-43893600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr10:43891000-43893800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr10:43891200-43893400	Active TSS	Gastric	stomach
9	chr10:43891200-43893800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr10:43891400-43893400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr10:43891400-43893600	Active TSS	Fetal Brain Female	brain
12	chr10:43891400-43894000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr10:43891600-43893400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr10:43891600-43893400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:43891600-43893400	Active TSS	Stomach Smooth Muscle	stomach
16	chr10:43891600-43893400	Active TSS	HMEC	breast
17	chr10:43891600-43893600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:43891600-43893600	Active TSS	NHLF	lung
19	chr10:43891600-43894000	Active TSS	A549	lung
20	chr10:43891600-43894000	Active TSS	HSMM	muscle
21	chr10:43891600-43894200	Active TSS	GM12878-XiMat	blood
22	chr10:43891600-43894400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr10:43891800-43893400	Active TSS	Fetal Thymus	thymus
24	chr10:43891800-43893600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:43891800-43893600	Active TSS	Thymus	Thymus
26	chr10:43891800-43894200	Active TSS	K562	blood
27	chr10:43892000-43893400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:43892000-43893400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:43892000-43893400	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr10:43892000-43893400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr10:43892000-43893400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr10:43892000-43893400	Active TSS	Fetal Stomach	stomach
33	chr10:43892000-43893600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:43892000-43893800	Active TSS	Fetal Intestine Small	intestine
35	chr10:43892000-43894000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr10:43892200-43893400	Active TSS	Primary T cells fromperipheralblood	blood
37	chr10:43892200-43893400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr10:43892200-43893400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr10:43892200-43893400	Active TSS	Brain Germinal Matrix	brain
40	chr10:43892200-43893400	Active TSS	Fetal Muscle Leg	muscle
41	chr10:43892200-43893400	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr10:43892200-43896600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr10:43892400-43893400	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr10:43892600-43893600	Flanking Active TSS	NH-A	brain
45	chr10:43892600-43894000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr10:43892800-43893400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:43892800-43893600	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr10:43892800-43893600	Flanking Active TSS	Fetal Brain Male	brain
49	chr10:43892800-43893600	Flanking Active TSS	HUVEC	blood vessel
50	chr10:43892800-43893600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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