Variant report

Variant	rs10933
Chromosome Location	chr3:52719816-52719817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:361)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr3:52719627-52720473	A549	lung:	n/a	n/a
2	HEY1	chr3:52719254-52720596	HepG2	liver:	n/a	n/a
3	EGR1	chr3:52719726-52720529	GM12878	blood:	n/a	chr3:52719978-52719987
4	POLR2A	chr3:52719398-52720386	A549	lung:	n/a	n/a
5	MXI1	chr3:52717818-52721863	SK-N-SH	brain:	n/a	n/a
6	ETS1	chr3:52719781-52720404	K562	blood:	n/a	n/a
7	SP1	chr3:52719772-52720224	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr3:52719369-52720661	K562	blood:	n/a	n/a
9	ATF3	chr3:52719718-52720149	H1-hESC	embryonic stem cell:	n/a	chr3:52719991-52720005
10	CREB1	chr3:52719248-52720777	HepG2	liver:	n/a	n/a
11	JUN	chr3:52719081-52720693	K562	blood:	n/a	chr3:52720134-52720143
12	YY1	chr3:52719656-52720225	SK-N-SH_RA	brain:	n/a	n/a
13	JUND	chr3:52719791-52720251	A549	lung:	n/a	chr3:52720134-52720143
14	CREB1	chr3:52719725-52720287	A549	lung:	n/a	n/a
15	RCOR1	chr3:52719451-52720233	HepG2	liver:	n/a	n/a
16	POLR2A	chr3:52719217-52720995	Hela-S3	cervix:	n/a	n/a
17	CEBPD	chr3:52719415-52720216	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:52719642-52720296	HepG2	liver:	n/a	n/a
19	MYC	chr3:52719764-52720469	MCF-7	breast:	n/a	n/a
20	CREB1	chr3:52719310-52720525	GM12878	blood:	n/a	n/a
21	TBP	chr3:52718933-52720646	GM12878	blood:	n/a	n/a
22	MXI1	chr3:52719206-52722054	IMR90	lung:	n/a	n/a
23	TAF1	chr3:52719812-52720259	SK-N-SH	brain:	n/a	n/a
24	YY1	chr3:52719678-52720104	K562	blood:	n/a	n/a
25	TAF1	chr3:52719810-52720334	H1-neurons	neurons:	n/a	n/a
26	PAX5	chr3:52719750-52720462	GM12878	blood:	n/a	n/a
27	POLR2A	chr3:52719219-52720858	HL-60	blood:	n/a	n/a
28	POLR2A	chr3:52719661-52720281	HepG2	liver:	n/a	n/a
29	MAX	chr3:52719313-52720694	HepG2	liver:	n/a	n/a
30	POLR2A	chr3:52719327-52720646	HCT-116	colon:	n/a	n/a
31	POLR2A	chr3:52718446-52723739	IMR90	lung:	n/a	n/a
32	ATF3	chr3:52719595-52720136	K562	blood:	n/a	chr3:52719991-52720005
33	MYC	chr3:52719709-52720594	MCF-7	breast:	n/a	n/a
34	STAT5A	chr3:52719267-52720912	GM12878	blood:	n/a	n/a
35	POLR2A	chr3:52719241-52720951	U87	brain:	n/a	n/a
36	UBTF	chr3:52719318-52720372	K562	blood:	n/a	n/a
37	POLR2A	chr3:52719329-52721259	HepG2	liver:	n/a	n/a
38	POLR2A	chr3:52719170-52723469	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZEB1	chr3:52719369-52720273	GM12878	blood:	n/a	n/a
40	ATF2	chr3:52719762-52720289	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIX5	chr3:52719805-52720334	A549	lung:	n/a	n/a
42	TAF1	chr3:52719268-52720508	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr3:52719314-52720507	MCF-7	breast:	n/a	n/a
44	USF1	chr3:52719799-52720224	H1-hESC	embryonic stem cell:	n/a	n/a
45	SP1	chr3:52719732-52720183	GM12878	blood:	n/a	n/a
46	POLR2A	chr3:52719130-52720824	U87	brain:	n/a	n/a
47	BHLHE40	chr3:52719302-52720749	GM12878	blood:	n/a	n/a
48	RAD21	chr3:52719723-52719908	K562	blood:	n/a	n/a
49	ELF1	chr3:52719277-52720552	GM12878	blood:	n/a	chr3:52720010-52720019
50	YY1	chr3:52719400-52720137	K562	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52719561..52722875-chr3:52731308..52733675,5	MCF-7	breast:
2	chr3:52487997..52491865-chr3:52718755..52722667,5	MCF-7	breast:
3	chr3:52567553..52570571-chr3:52718365..52721514,3	MCF-7	breast:
4	chr3:52566406..52569677-chr3:52718507..52721358,5	MCF-7	breast:
5	chr3:52719488..52720155-chr7:5569924..5570513,2	Hela-S3	cervix:
6	chr3:52452815..52455679-chr3:52718724..52720785,2	MCF-7	breast:
7	chr3:52568115..52572187-chr3:52717267..52721555,8	K562	blood:
8	chr17:7475855..7476647-chr3:52719093..52720044,2	Hela-S3	cervix:
9	chr3:52719707..52720427-chr3:52738394..52739141,2	Hela-S3	cervix:
10	chr3:52567779..52572340-chr3:52718708..52722750,6	K562	blood:
11	chr3:52712073..52717938-chr3:52718038..52722104,14	K562	blood:
12	chr3:52492633..52495296-chr3:52719362..52721051,2	MCF-7	breast:
13	chr3:52718628..52724105-chr3:52738117..52743946,12	MCF-7	breast:
14	chr10:103577762..103578710-chr3:52719541..52720126,2	Hela-S3	cervix:
15	chr3:52718708..52722190-chr3:52722401..52727615,8	MCF-7	breast:
16	chr3:52719608..52722839-chr3:52830545..52833712,3	K562	blood:
17	chr3:52642339..52643982-chr3:52719145..52721917,2	MCF-7	breast:
18	chr3:52719354..52720004-chr7:104653026..104653664,2	Hela-S3	cervix:
19	chr10:98346445..98347105-chr3:52719196..52720083,2	Hela-S3	cervix:
20	chr3:52718552..52720204-chr3:53288548..53290177,2	K562	blood:

No data

Variant related genes	Relation type
GNL3	TF binding region
PBRM1	TF binding region
SNORD19B	TF binding region
SNORD19	TF binding region
ENSG00000252787	TF binding region
ENSG00000222345	Chromatin interaction
ENSG00000010322	Chromatin interaction
ENSG00000077147	Chromatin interaction
ENSG00000114902	Chromatin interaction
ENSG00000198408	Chromatin interaction
ENSG00000168268	Chromatin interaction
ENSG00000212452	Chromatin interaction
ENSG00000161960	Chromatin interaction
ENSG00000016864	Chromatin interaction
ENSG00000238862	Chromatin interaction
ENSG00000163939	Chromatin interaction
ENSG00000163931	Chromatin interaction
ENSG00000168273	Chromatin interaction
ENSG00000114854	Chromatin interaction
ENSG00000163938	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000252787	Chromatin interaction
ENSG00000212493	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000162267	Chromatin interaction
ENSG00000010318	Chromatin interaction

Extended variants
information (count: 141 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10433615	0.81[ASN][1000 genomes]
rs10510760	0.83[ASN][1000 genomes]
rs10865973	0.90[ASN][1000 genomes]
rs10865974	0.91[ASN][1000 genomes]
rs11130308	0.82[ASN][1000 genomes]
rs11130311	0.83[ASN][1000 genomes]
rs11130312	0.84[ASN][1000 genomes]
rs11130313	0.84[ASN][1000 genomes]
rs11130314	0.85[ASN][1000 genomes]
rs11130315	0.85[ASN][1000 genomes]
rs11130317	0.91[ASN][1000 genomes]
rs11130319	0.86[ASN][1000 genomes]
rs11130324	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11177	0.89[ASN][1000 genomes]
rs11235	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11708075	0.81[ASN][1000 genomes]
rs11709448	0.83[ASN][1000 genomes]
rs11714030	0.80[ASN][1000 genomes]
rs11714088	0.80[ASN][1000 genomes]
rs11714419	0.81[ASN][1000 genomes]
rs11716747	0.85[ASN][1000 genomes]
rs11717043	0.83[ASN][1000 genomes]
rs11719514	0.83[ASN][1000 genomes]
rs11720432	0.84[ASN][1000 genomes]
rs12486554	0.88[ASN][1000 genomes]
rs12486847	0.84[ASN][1000 genomes]
rs12487591	0.83[ASN][1000 genomes]
rs12488461	0.85[ASN][1000 genomes]
rs12488527	0.81[ASN][1000 genomes]
rs12496476	0.83[ASN][1000 genomes]
rs12496634	0.91[ASN][1000 genomes]
rs12498066	0.82[ASN][1000 genomes]
rs12632265	0.86[ASN][1000 genomes]
rs12635140	0.89[ASN][1000 genomes]
rs13060675	0.84[ASN][1000 genomes]
rs13061253	0.89[ASN][1000 genomes]
rs13064064	0.83[ASN][1000 genomes]
rs13065019	0.84[ASN][1000 genomes]
rs13065851	0.83[ASN][1000 genomes]
rs13068293	0.84[ASN][1000 genomes]
rs13069481	0.84[ASN][1000 genomes]
rs13076193	0.90[ASN][1000 genomes]
rs13079063	0.87[ASN][1000 genomes]
rs13081031	0.84[ASN][1000 genomes]
rs13081155	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13083798	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13085331	0.82[ASN][1000 genomes]
rs13085775	0.84[ASN][1000 genomes]
rs13085895	0.84[ASN][1000 genomes]
rs13086297	0.84[ASN][1000 genomes]
rs13086898	0.83[ASN][1000 genomes]
rs1468638	0.85[ASN][1000 genomes]
rs1561337	0.83[ASN][1000 genomes]
rs1866268	0.91[ASN][1000 genomes]
rs2028216	0.82[ASN][1000 genomes]
rs2072390	0.80[ASN][1000 genomes]
rs2079929	0.80[ASN][1000 genomes]
rs2083180	0.84[ASN][1000 genomes]
rs2118540	0.82[ASN][1000 genomes]
rs2164884	0.82[ASN][1000 genomes]
rs2164885	0.91[ASN][1000 genomes]
rs2276824	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2289247	0.91[ASN][1000 genomes]
rs2289250	0.84[ASN][1000 genomes]
rs2336145	0.82[ASN][1000 genomes]
rs2336146	0.82[ASN][1000 genomes]
rs2336149	0.85[ASN][1000 genomes]
rs2336542	0.91[ASN][1000 genomes]
rs2577831	0.89[ASN][1000 genomes]
rs2590838	0.86[ASN][1000 genomes]
rs2590846	0.85[ASN][1000 genomes]
rs2878726	0.83[ASN][1000 genomes]
rs33967311	0.84[ASN][1000 genomes]
rs34017441	0.87[ASN][1000 genomes]
rs34157897	0.91[ASN][1000 genomes]
rs34168767	0.81[ASN][1000 genomes]
rs34173654	0.83[ASN][1000 genomes]
rs34215106	0.83[ASN][1000 genomes]
rs34537256	0.84[ASN][1000 genomes]
rs34610142	0.86[ASN][1000 genomes]
rs34610878	0.82[ASN][1000 genomes]
rs34754793	0.82[ASN][1000 genomes]
rs34757451	0.84[ASN][1000 genomes]
rs34918356	0.80[ASN][1000 genomes]
rs35211965	0.84[ASN][1000 genomes]
rs35212380	0.90[ASN][1000 genomes]
rs35249778	0.83[ASN][1000 genomes]
rs35315313	0.91[ASN][1000 genomes]
rs35409678	0.84[ASN][1000 genomes]
rs35526119	0.85[ASN][1000 genomes]
rs35976524	0.85[ASN][1000 genomes]
rs3733039	0.91[ASN][1000 genomes]
rs3733041	0.91[ASN][1000 genomes]
rs3733045	0.83[ASN][1000 genomes]
rs3755798	0.87[ASN][1000 genomes]
rs3755806	0.83[ASN][1000 genomes]
rs3774349	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3774365	0.83[ASN][1000 genomes]
rs3774366	0.83[ASN][1000 genomes]
rs3852066	0.82[ASN][1000 genomes]
rs4130905	0.91[ASN][1000 genomes]
rs4687548	0.84[ASN][1000 genomes]
rs4687633	0.82[ASN][1000 genomes]
rs4687636	0.84[ASN][1000 genomes]
rs4687637	0.83[ASN][1000 genomes]
rs4687638	0.83[ASN][1000 genomes]
rs4687639	0.83[ASN][1000 genomes]
rs4687644	0.84[ASN][1000 genomes]
rs62253700	0.81[ASN][1000 genomes]
rs62253703	0.83[ASN][1000 genomes]
rs62253733	0.83[ASN][1000 genomes]
rs62255362	0.85[ASN][1000 genomes]
rs62255371	0.85[ASN][1000 genomes]
rs6445529	0.84[ASN][1000 genomes]
rs6445531	0.91[ASN][1000 genomes]
rs6445534	0.87[ASN][1000 genomes]
rs6617	0.91[ASN][1000 genomes]
rs67539070	0.91[ASN][1000 genomes]
rs6762813	0.90[ASN][1000 genomes]
rs6768697	0.85[ASN][1000 genomes]
rs6770463	0.85[ASN][1000 genomes]
rs6790330	0.82[ASN][1000 genomes]
rs6796726	0.82[ASN][1000 genomes]
rs68021750	0.81[ASN][1000 genomes]
rs6803012	0.86[ASN][1000 genomes]
rs6804145	0.85[ASN][1000 genomes]
rs6976	0.89[ASN][1000 genomes]
rs7611731	0.85[ASN][1000 genomes]
rs7612511	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7620039	0.84[ASN][1000 genomes]
rs7622694	0.84[ASN][1000 genomes]
rs7624716	0.85[ASN][1000 genomes]
rs7628578	0.82[ASN][1000 genomes]
rs7642198	0.84[ASN][1000 genomes]
rs7646741	0.86[ASN][1000 genomes]
rs767418	0.80[ASN][1000 genomes]
rs8906	0.91[ASN][1000 genomes]
rs9714129	0.86[ASN][1000 genomes]
rs9879090	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9917834	0.82[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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	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	chr3:52717800-52721000	Active TSS	GM12878-XiMat	blood
2	chr3:52718000-52720600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:52718000-52721200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:52718000-52721200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:52718200-52720400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr3:52718200-52720400	Active TSS	Fetal Brain Female	brain
7	chr3:52718200-52720600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr3:52718400-52720400	Active TSS	K562	blood
9	chr3:52718400-52720800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:52718400-52720800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:52718400-52720800	Active TSS	Fetal Thymus	thymus
12	chr3:52718400-52720800	Active TSS	NHLF	lung
13	chr3:52718400-52721200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:52718600-52720000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:52718600-52720800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:52718600-52721200	Active TSS	Psoas Muscle	Psoas
17	chr3:52718800-52720200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr3:52718800-52720200	Active TSS	Rectal Smooth Muscle	rectum
19	chr3:52718800-52720200	Active TSS	Right Ventricle	heart
20	chr3:52718800-52720400	Active TSS	Brain Germinal Matrix	brain
21	chr3:52718800-52720400	Active TSS	Thymus	Thymus
22	chr3:52718800-52720600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:52718800-52720600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr3:52718800-52720800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr3:52718800-52720800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:52718800-52720800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:52718800-52720800	Active TSS	Stomach Mucosa	stomach
28	chr3:52718800-52720800	Active TSS	HSMM	muscle
29	chr3:52718800-52720800	Active TSS	NHDF-Ad	bronchial
30	chr3:52718800-52721000	Active TSS	Right Atrium	heart
31	chr3:52718800-52721200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr3:52719000-52720000	Active TSS	Primary T cells fromperipheralblood	blood
33	chr3:52719000-52720000	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr3:52719000-52720000	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr3:52719000-52720200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr3:52719000-52720200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:52719000-52720200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:52719000-52720200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr3:52719000-52720200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr3:52719000-52720200	Active TSS	Fetal Intestine Small	intestine
41	chr3:52719000-52720200	Active TSS	Dnd41	blood
42	chr3:52719000-52720400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:52719000-52720400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:52719000-52720400	Active TSS	Muscle Satellite Cultured Cells	--
45	chr3:52719000-52720400	Active TSS	Brain Angular Gyrus	brain
46	chr3:52719000-52720400	Active TSS	Brain Anterior Caudate	brain
47	chr3:52719000-52720400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:52719000-52720400	Active TSS	Duodenum Mucosa	Duodenum
49	chr3:52719000-52720400	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr3:52719000-52720400	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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