Variant report

Variant	rs73306721
Chromosome Location	chr10:50398441-50398442
allele	C/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	chr10:50398383-50398695	GM12878	blood:	n/a	n/a
2	FOS	chr10:50398044-50398473	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr10:50397968-50398557	GM12878	blood:	n/a	n/a
4	TBP	chr10:50398140-50399662	GM12878	blood:	n/a	n/a
5	EBF1	chr10:50398106-50399029	GM12878	blood:	n/a	chr10:50398305-50398316
6	POLR2A	chr10:50398117-50399107	GM19193	blood:	n/a	n/a
7	BHLHE40	chr10:50398259-50399135	GM12878	blood:	n/a	chr10:50398567-50398583
8	CHD2	chr10:50398312-50398465	Hela-S3	cervix:	n/a	chr10:50398429-50398438
9	RELA	chr10:50397978-50399628	GM19099	blood:	n/a	n/a
10	SPI1	chr10:50397994-50398613	HL-60	blood:	n/a	chr10:50398331-50398344
11	POLR2A	chr10:50398117-50399073	GM15510	blood:	n/a	n/a
12	BRCA1	chr10:50398354-50398538	GM12878	blood:	n/a	chr10:50398429-50398438
13	ZNF384	chr10:50398304-50399841	GM12878	blood:	n/a	n/a
14	MAZ	chr10:50398273-50398662	GM12878	blood:	n/a	n/a
15	EBF1	chr10:50398164-50398689	GM12878	blood:	n/a	chr10:50398305-50398316
16	POLR2A	chr10:50397926-50399200	GM19099	blood:	n/a	n/a
17	EP300	chr10:50398200-50398583	GM12878	blood:	n/a	n/a
18	IKZF1	chr10:50398072-50399058	GM12878	blood:	n/a	n/a
19	YY1	chr10:50398275-50398596	GM12878	blood:	n/a	n/a
20	CTCF	chr10:50398440-50398590	GM12878	blood:	n/a	n/a
21	CHD2	chr10:50398246-50398654	GM12878	blood:	n/a	chr10:50398429-50398438
22	POLR2A	chr10:50398169-50398927	GM12892	blood:	n/a	n/a
23	MTA3	chr10:50398150-50398691	GM12878	blood:	n/a	n/a
24	RELA	chr10:50398196-50399165	GM15510	blood:	n/a	n/a
25	FOS	chr10:50398013-50398537	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr10:50398132-50398851	GM12892	blood:	n/a	n/a
27	ZNF143	chr10:50398246-50398608	GM12878	blood:	n/a	n/a
28	RCOR1	chr10:50398118-50398766	GM12878	blood:	n/a	n/a
29	POLR2A	chr10:50398109-50398698	HL-60	blood:	n/a	n/a
30	EBF1	chr10:50398123-50398654	GM12878	blood:	n/a	chr10:50398305-50398316
31	POLR2A	chr10:50398061-50399137	GM18951	blood:	n/a	n/a
32	MAX	chr10:50398270-50398580	GM12878	blood:	n/a	n/a
33	MYC	chr10:50398143-50398565	NB4	blood:	n/a	n/a
34	WRNIP1	chr10:50398201-50398516	GM12878	blood:	n/a	n/a
35	MTA3	chr10:50398010-50398942	GM12878	blood:	n/a	n/a
36	SPI1	chr10:50398118-50398485	GM12878	blood:	n/a	chr10:50398331-50398344
37	POLR2A	chr10:50398182-50398647	GM12892	blood:	n/a	n/a
38	SPI1	chr10:50397997-50398488	GM12891	blood:	n/a	chr10:50398331-50398344
39	ZEB1	chr10:50398263-50398778	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
C10orf128	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10857445	0.86[EUR][1000 genomes]
rs10857447	0.86[EUR][1000 genomes]
rs12253910	0.86[EUR][1000 genomes]
rs12257188	1.00[EUR][1000 genomes]
rs17009530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17009562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17009596	0.86[EUR][1000 genomes]
rs17009606	0.86[EUR][1000 genomes]
rs17451560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2377985	0.86[EUR][1000 genomes]
rs57374856	1.00[EUR][1000 genomes]
rs58131680	0.86[EUR][1000 genomes]
rs6537509	0.86[EUR][1000 genomes]
rs6537510	0.86[EUR][1000 genomes]
rs7075088	1.00[EUR][1000 genomes]
rs73300987	1.00[EUR][1000 genomes]
rs73306720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306725	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7394346	0.86[EUR][1000 genomes]
rs7909019	1.00[EUR][1000 genomes]
rs7912808	0.86[EUR][1000 genomes]
rs7913102	1.00[EUR][1000 genomes]
rs7922135	0.86[EUR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50391600-50399400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr10:50394600-50398600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr10:50394800-50399000	Enhancers	Primary hematopoietic stem cells	blood
4	chr10:50395200-50398600	Enhancers	Spleen	Spleen
5	chr10:50396200-50398600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:50396400-50398800	Enhancers	Fetal Muscle Leg	muscle
7	chr10:50396400-50399200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:50396400-50399200	Enhancers	Placenta	Placenta
9	chr10:50396600-50398600	Enhancers	Lung	lung
10	chr10:50396600-50399200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr10:50396600-50399200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:50396800-50398600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr10:50396800-50398600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr10:50396800-50398800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr10:50396800-50399000	Enhancers	Fetal Muscle Trunk	muscle
16	chr10:50396800-50399200	Enhancers	Left Ventricle	heart
17	chr10:50396800-50399200	Enhancers	K562	blood
18	chr10:50396800-50399400	Enhancers	Primary B cells from peripheral blood	blood
19	chr10:50397000-50399600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr10:50397000-50401600	Weak transcription	HUVEC	blood vessel
21	chr10:50397600-50398600	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr10:50397600-50398600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:50397600-50399400	Flanking Active TSS	GM12878-XiMat	blood
24	chr10:50397800-50398800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr10:50398000-50398600	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr10:50398000-50398600	Flanking Active TSS	Hela-S3	cervix
27	chr10:50398200-50398600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr10:50398200-50398600	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
29	chr10:50398200-50398600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr10:50398200-50398600	Active TSS	Rectal Smooth Muscle	rectum
31	chr10:50398200-50398600	Enhancers	Right Atrium	heart
32	chr10:50398200-50398600	Enhancers	Right Ventricle	heart
33	chr10:50398200-50398600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr10:50398200-50398800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr10:50398400-50398600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:50398400-50398600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr10:50398400-50398600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:50398400-50398600	Enhancers	Esophagus	oesophagus
39	chr10:50398400-50398600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
40	chr10:50398400-50398800	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr10:50398400-50399200	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr10:50398400-50399200	Active TSS	Colonic Mucosa	Colon

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