Variant report

Variant	rs4935152
Chromosome Location	chr10:52178463-52178464
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	RAD21	chr10:52177245-52178518	Hela-S3	cervix:	n/a	chr10:52178026-52178039
2	GATA1	chr10:52177492-52178656	PBDE	blood:	n/a	n/a
3	IRF1	chr10:52177496-52178676	K562	blood:	n/a	chr10:52178455-52178469 chr10:52178456-52178466 chr10:52178237-52178246 chr10:52177524-52177535 chr10:52178455-52178469
4	JUND	chr10:52177792-52178490	K562	blood:	n/a	chr10:52178236-52178248 chr10:52178238-52178246 chr10:52178237-52178247 chr10:52178237-52178247 chr10:52178078-52178087
5	MXI1	chr10:52177163-52178488	GM12878	blood:	n/a	n/a
6	GTF2B	chr10:52178112-52178512	K562	blood:	n/a	n/a
7	PBX3	chr10:52177832-52178571	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr10:52177978-52178559	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr10:52177300-52178652	GM19193	blood:	n/a	n/a
10	CEBPB	chr10:52177233-52178536	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr10:52177924-52178475	SK-N-SH	brain:	n/a	n/a
12	TCF12	chr10:52177526-52178705	A549	lung:	n/a	n/a
13	SP1	chr10:52177928-52178604	A549	lung:	n/a	chr10:52178258-52178279
14	POLR2A	chr10:52177797-52178476	K562	blood:	n/a	n/a
15	POLR2A	chr10:52177337-52178609	Hela-S3	cervix:	n/a	n/a
16	MAFF	chr10:52178103-52178466	K562	blood:	n/a	n/a
17	FOS	chr10:52178060-52178464	MCF10A-Er-Src	breast:	n/a	chr10:52178236-52178248 chr10:52178238-52178246 chr10:52178237-52178247 chr10:52178237-52178247 chr10:52178236-52178247 chr10:52178078-52178087
18	TBP	chr10:52177243-52178521	Hela-S3	cervix:	n/a	n/a
19	FOSL2	chr10:52177912-52178524	A549	lung:	n/a	chr10:52178236-52178248 chr10:52178238-52178246 chr10:52178237-52178247 chr10:52178237-52178247 chr10:52178078-52178087
20	SP1	chr10:52177795-52178550	HCT-116	colon:	n/a	chr10:52178258-52178279
21	EP300	chr10:52178050-52178670	A549	lung:	n/a	chr10:52178229-52178243
22	POLR2A	chr10:52177259-52178635	GM18951	blood:	n/a	n/a
23	FOSL2	chr10:52177956-52178530	SK-N-SH	brain:	n/a	chr10:52178236-52178248 chr10:52178238-52178246 chr10:52178237-52178247 chr10:52178237-52178247 chr10:52178078-52178087
24	EP300	chr10:52177558-52178517	K562	blood:	n/a	chr10:52178229-52178243
25	BRCA1	chr10:52177866-52178487	Hela-S3	cervix:	n/a	n/a
26	TBL1XR1	chr10:52178027-52178494	GM12878	blood:	n/a	n/a
27	RAD21	chr10:52177469-52178539	IMR90	lung:	n/a	chr10:52178026-52178039
28	RCOR1	chr10:52177263-52178537	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr10:52176700-52178555	K562	blood:	n/a	n/a
30	FOSL1	chr10:52177814-52178472	HCT-116	colon:	n/a	chr10:52178236-52178248 chr10:52178238-52178246 chr10:52178237-52178247 chr10:52178237-52178247 chr10:52178078-52178087
31	POLR2A	chr10:52177318-52179054	GM19099	blood:	n/a	n/a
32	SIN3AK20	chr10:52177967-52178573	MCF-7	breast:	n/a	n/a
33	POLR2A	chr10:52177323-52178618	Raji	blood:	n/a	n/a
34	POLR2A	chr10:52176611-52178524	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr10:52177708-52178540	GM12892	blood:	n/a	n/a
36	FOSL2	chr10:52177956-52178496	MCF-7	breast:	n/a	chr10:52178236-52178248 chr10:52178238-52178246 chr10:52178237-52178247 chr10:52178237-52178247 chr10:52178078-52178087
37	MAFK	chr10:52178077-52178473	K562	blood:	n/a	n/a
38	EP300	chr10:52177410-52178485	GM12878	blood:	n/a	chr10:52178229-52178243
39	TBP	chr10:52177967-52178513	K562	blood:	n/a	n/a
40	IRF1	chr10:52178013-52178932	K562	blood:	n/a	chr10:52178455-52178469 chr10:52178456-52178466 chr10:52178237-52178246 chr10:52178455-52178469
41	KAP1	chr10:52177568-52178525	HEK293	kidney:	n/a	n/a
42	MAFK	chr10:52177241-52178535	Hela-S3	cervix:	n/a	n/a
43	MAZ	chr10:52177686-52178585	GM12878	blood:	n/a	chr10:52178237-52178246
44	GABPA	chr10:52177998-52178506	A549	lung:	n/a	n/a
45	TBL1XR1	chr10:52178088-52178571	K562	blood:	n/a	n/a
46	POLR2A	chr10:52177699-52178567	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr10:52177462-52178513	K562	blood:	n/a	n/a
48	MAX	chr10:52177184-52178611	A549	lung:	n/a	chr10:52177324-52177335 chr10:52178237-52178246
49	ELK1	chr10:52178194-52178504	K562	blood:	n/a	n/a
50	POLR2A	chr10:52177885-52178539	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:52176233..52179172-chr10:52229395..52232901,6	MCF-7	breast:
2	chr10:52173595..52180106-chr10:52381535..52385847,7	MCF-7	breast:
3	chr10:52049655..52052352-chr10:52178412..52180723,2	MCF-7	breast:
4	chr10:52173619..52179913-chr10:52381938..52386991,6	K562	blood:
5	chr10:52152378..52155454-chr10:52174313..52178963,4	MCF-7	breast:
6	chr10:52152624..52157680-chr10:52173844..52179255,6	K562	blood:
7	chr10:52176732..52178529-chr10:52382760..52384432,2	MCF-7	breast:

Variant related genes	Relation type
SGMS1	TF binding region
ENSG00000198964	Chromatin interaction
ENSG00000225303	Chromatin interaction
ENSG00000269700	Chromatin interaction
ENSG00000226200	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10490963	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490964	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11005626	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11005959	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12257419	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12262259	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1369860	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17438825	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17440448	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17518471	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17519121	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17519380	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17721658	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17721694	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17721713	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17778152	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916568	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916569	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1916571	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2060560	0.99[ASN][1000 genomes]
rs2064759	0.89[ASN][1000 genomes]
rs2117961	0.91[ASN][1000 genomes]
rs2117962	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255387	0.99[ASN][1000 genomes]
rs2255720	0.99[ASN][1000 genomes]
rs2255849	0.99[ASN][1000 genomes]
rs2255853	0.99[ASN][1000 genomes]
rs2255859	0.97[ASN][1000 genomes]
rs2574955	0.99[ASN][1000 genomes]
rs2574956	0.99[ASN][1000 genomes]
rs2574975	0.86[ASN][1000 genomes]
rs2574981	0.99[ASN][1000 genomes]
rs2688875	0.95[ASN][1000 genomes]
rs2688877	0.93[ASN][1000 genomes]
rs2688879	0.99[ASN][1000 genomes]
rs2842102	0.99[ASN][1000 genomes]
rs2842105	0.99[ASN][1000 genomes]
rs2842106	0.99[ASN][1000 genomes]
rs2842107	0.99[ASN][1000 genomes]
rs2842109	0.99[ASN][1000 genomes]
rs34672995	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34928652	0.92[ASN][1000 genomes]
rs3802537	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4935673	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4935703	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4935713	0.87[ASN][1000 genomes]
rs4935729	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55773344	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55861418	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56078228	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56080689	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56133398	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56225400	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56268559	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56277433	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61559519	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61741330	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61856761	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856763	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856778	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856782	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856787	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61856788	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61856793	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61856794	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61856795	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61856828	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61856832	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61858062	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858064	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61858065	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61858068	0.89[ASN][1000 genomes]
rs61858069	0.92[ASN][1000 genomes]
rs61858206	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858207	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7067626	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7068430	0.91[ASN][1000 genomes]
rs7069115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7082805	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7092753	0.92[ASN][1000 genomes]
rs72801752	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72801754	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801768	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72801775	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72801776	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72801781	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7392702	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7475420	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7921632	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884880	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv521273	chr10:52051645-52197847	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52176200-52178800	Active TSS	Right Atrium	heart
2	chr10:52176200-52178800	Active TSS	NHDF-Ad	bronchial
3	chr10:52176400-52178800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:52176400-52178800	Active TSS	HSMMtube	muscle
5	chr10:52176600-52178600	Active TSS	Fetal Muscle Trunk	muscle
6	chr10:52176600-52178800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:52176600-52178800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr10:52176600-52178800	Active TSS	Colon Smooth Muscle	Colon
9	chr10:52176600-52178800	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr10:52176800-52178600	Active TSS	Aorta	Aorta
11	chr10:52176800-52178600	Active TSS	Left Ventricle	heart
12	chr10:52176800-52178600	Active TSS	Lung	lung
13	chr10:52176800-52178600	Active TSS	Right Ventricle	heart
14	chr10:52176800-52178800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr10:52176800-52179000	Active TSS	Stomach Smooth Muscle	stomach
16	chr10:52177000-52178600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:52177000-52178600	Active TSS	Brain Substantia Nigra	brain
18	chr10:52177000-52178800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr10:52177000-52178800	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr10:52177000-52179000	Active TSS	A549	lung
21	chr10:52177200-52178600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:52177200-52178600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr10:52177200-52178600	Active TSS	Psoas Muscle	Psoas
24	chr10:52177400-52178600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:52177400-52178600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:52177400-52178800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr10:52177400-52178800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:52177600-52178600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr10:52177600-52178800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:52177800-52178600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr10:52177800-52178600	Active TSS	Fetal Intestine Small	intestine
32	chr10:52177800-52178600	Active TSS	Rectal Smooth Muscle	rectum
33	chr10:52177800-52178600	Active TSS	HepG2	liver
34	chr10:52178200-52178600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:52178200-52178600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr10:52178200-52178600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
37	chr10:52178200-52178600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr10:52178200-52178600	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr10:52178200-52178600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr10:52178200-52178600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr10:52178200-52178600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr10:52178200-52178600	Flanking Active TSS	Fetal Brain Male	brain
43	chr10:52178200-52178600	Active TSS	Thymus	Thymus
44	chr10:52178200-52178600	Enhancers	Spleen	Spleen
45	chr10:52178200-52178800	Flanking Active TSS	NH-A	brain
46	chr10:52178200-52179000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr10:52178400-52178600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr10:52178400-52178600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr10:52178400-52178600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr10:52178400-52178600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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