Variant report

Variant	rs3824594
Chromosome Location	chr10:27444250-27444251
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	YY1	chr10:27443656-27444537	GM12878	blood:	n/a	chr10:27444264-27444278
2	MAX	chr10:27443753-27444488	GM12878	blood:	n/a	chr10:27444264-27444273
3	MAFK	chr10:27443902-27444401	HepG2	liver:	n/a	n/a
4	POLR2A	chr10:27442481-27445646	MCF10A-Er-Src	breast:	n/a	n/a
5	YY1	chr10:27443978-27444424	GM12892	blood:	n/a	chr10:27444264-27444278
6	RFX5	chr10:27443200-27444376	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:27443752-27445177	ECC-1	luminal epithelium:	n/a	n/a
8	MXI1	chr10:27442288-27445640	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr10:27444109-27444637	K562	blood:	n/a	n/a
10	YY1	chr10:27443751-27444511	HepG2	liver:	n/a	chr10:27444264-27444278
11	HCFC1	chr10:27443849-27445289	Hela-S3	cervix:	n/a	n/a
12	YY1	chr10:27443899-27445186	K562	blood:	n/a	chr10:27444264-27444278
13	TBL1XR1	chr10:27442901-27444557	K562	blood:	n/a	n/a
14	POLR2A	chr10:27442676-27445300	K562	blood:	n/a	n/a
15	CREB1	chr10:27443806-27444518	A549	lung:	n/a	n/a
16	TAF1	chr10:27443720-27444840	ECC-1	luminal epithelium:	n/a	n/a
17	FOSL2	chr10:27443925-27444379	A549	lung:	n/a	n/a
18	ATF2	chr10:27443638-27444520	GM12878	blood:	n/a	chr10:27444241-27444255
19	ATF1	chr10:27443936-27444775	K562	blood:	n/a	chr10:27444241-27444255
20	POLR2A	chr10:27442747-27445340	GM18505	blood:	n/a	n/a
21	JUN	chr10:27444000-27444326	HepG2	liver:	n/a	chr10:27444114-27444127
22	PAX5	chr10:27443041-27444471	GM12878	blood:	n/a	n/a
23	POLR2A	chr10:27442590-27445235	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF1	chr10:27443792-27444477	GM12891	blood:	n/a	n/a
25	TAF1	chr10:27442685-27445138	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr10:27442720-27445302	GM12891	blood:	n/a	n/a
27	BATF	chr10:27443809-27444346	GM12878	blood:	n/a	n/a
28	ELK1	chr10:27443957-27444511	GM12878	blood:	n/a	n/a
29	MAX	chr10:27443815-27444591	Hela-S3	cervix:	n/a	chr10:27444264-27444273
30	MAFK	chr10:27443945-27444422	Hela-S3	cervix:	n/a	n/a
31	NFIC	chr10:27443794-27444302	GM12878	blood:	n/a	n/a
32	NFYB	chr10:27443724-27444484	GM12878	blood:	n/a	n/a
33	TAL1	chr10:27442433-27444537	K562	blood:	n/a	n/a
34	HMGN3	chr10:27444022-27445140	K562	blood:	n/a	n/a
35	BHLHE40	chr10:27443817-27444325	GM12878	blood:	n/a	n/a
36	POLR2A	chr10:27443796-27444562	Gliobla	brain:	n/a	n/a
37	BCL11A	chr10:27443802-27444255	GM12878	blood:	n/a	n/a
38	GABPA	chr10:27442565-27444480	MCF-7	breast:	n/a	chr10:27444258-27444267
39	EGR1	chr10:27443923-27444410	K562	blood:	n/a	chr10:27444263-27444274 chr10:27444262-27444275 chr10:27444262-27444276 chr10:27444181-27444195 chr10:27444262-27444275 chr10:27444265-27444274 chr10:27444264-27444274 chr10:27444262-27444275 chr10:27444264-27444274 chr10:27444263-27444274 chr10:27444258-27444280 chr10:27444231-27444245
40	E2F6	chr10:27443731-27444728	A549	lung:	n/a	chr10:27444245-27444254 chr10:27444611-27444621
41	TBL1XR1	chr10:27442547-27444890	K562	blood:	n/a	n/a
42	ATF3	chr10:27444026-27444379	K562	blood:	n/a	chr10:27444245-27444255 chr10:27444245-27444255 chr10:27444245-27444252 chr10:27444245-27444253
43	EGR1	chr10:27443861-27444500	MCF-7	breast:	n/a	chr10:27444263-27444274 chr10:27444262-27444275 chr10:27444262-27444276 chr10:27444181-27444195 chr10:27444262-27444275 chr10:27444265-27444274 chr10:27444264-27444274 chr10:27444262-27444275 chr10:27444264-27444274 chr10:27444263-27444274 chr10:27444258-27444280 chr10:27444231-27444245
44	GABPA	chr10:27443781-27444407	K562	blood:	n/a	chr10:27444258-27444267
45	MYC	chr10:27442757-27444574	NB4	blood:	n/a	chr10:27444264-27444273
46	E2F6	chr10:27444047-27444366	K562	blood:	n/a	chr10:27444245-27444254
47	TAF1	chr10:27443779-27444880	K562	blood:	n/a	n/a
48	CREB1	chr10:27443917-27444524	ECC-1	luminal epithelium:	n/a	n/a
49	TAF1	chr10:27443791-27444412	Hela-S3	cervix:	n/a	n/a
50	TEAD4	chr10:27443592-27445033	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:27444248-27444298	LNCaP	prostate:	n/a
2	chr10:27444248-27444298	SK-N-MC	brain:	n/a
3	chr10:27444248-27444298	HUVEC	blood vessel:	n/a
4	chr10:27444248-27444298	NH-A	brain:	n/a
5	chr10:27444248-27444298	GM12878	blood:	n/a
6	chr10:27444248-27444298	GM12891	blood:	n/a
7	chr10:27444248-27444298	SK-N-SH	brain:	n/a
8	chr10:27444248-27444298	PrEC	prostate:	n/a
9	chr10:27444248-27444298	CMK	blood:	n/a
10	chr10:27444248-27444298	Jurkat	blood:	n/a
11	chr10:27444248-27444298	Caco-2	colon:	n/a
12	chr10:27444248-27444298	HNPCEpiC	eye:	n/a
13	chr10:27444248-27444298	HRCEpiC	kidney:	n/a
14	chr10:27444248-27444298	Hepatocyte	liver:	n/a
15	chr10:27444248-27444298	ProgFib	skin:	n/a
16	chr10:27444248-27444298	HMEC	breast:	n/a
17	chr10:27444248-27444298	HEEpiC	esophagus:	n/a
18	chr10:27444248-27444298	NHBE	bronchial:	n/a
19	chr10:27444248-27444298	AG09309	skin:	n/a
20	chr10:27444248-27444298	HepG2	liver:	n/a
21	chr10:27444248-27444298	BE2_C	brain:	n/a
22	chr10:27444248-27444298	HCM	heart:	n/a
23	chr10:27444248-27444298	NT2-D1	testis:	n/a
24	chr10:27444248-27444298	HCT-116	colon:	n/a
25	chr10:27444248-27444298	SK-N-SH_RA	brain:	n/a
26	chr10:27444248-27444298	GM12892	blood:	n/a
27	chr10:27444248-27444298	HPAEpiC	pulmonary alveolar:	n/a
28	chr10:27444248-27444298	HRE	kidney:	n/a
29	chr10:27444248-27444298	U87	brain:	n/a
30	chr10:27444248-27444298	HL-60	blood:	n/a
31	chr10:27444248-27444298	ECC-1	luminal epithelium:	n/a
32	chr10:27444248-27444298	GM06990	blood:	n/a
33	chr10:27444248-27444298	HAEpiC	amniotic membrane:	n/a
34	chr10:27444248-27444298	PANC-1	pancreas:	n/a
35	chr10:27444248-27444298	AoSMC	blood vessel:	n/a
36	chr10:27444248-27444298	AG04449	skin:	fetal
37	chr10:27444248-27444298	AG10803	skin:	n/a
38	chr10:27444248-27444298	NHDF-neo	bronchial:	n/a
39	chr10:27444248-27444298	PFSK-1	brain:	n/a
40	chr10:27444248-27444298	K562	blood:	n/a
41	chr10:27444248-27444298	HRPEpiC	eye:	n/a
42	chr10:27444248-27444298	HEK293	kidney:	embryo
43	chr10:27444248-27444298	RPTEC	kidney:	n/a
44	chr10:27444248-27444298	AG04450	lung:	fetal
45	chr10:27444248-27444298	HCPEpiC	choroid plexus:	n/a
46	chr10:27444248-27444298	HIPEpiC	eye:	n/a
47	chr10:27444248-27444298	HCF	heart:	n/a
48	chr10:27444248-27444298	AG09319	gingival:	n/a
49	chr10:27444248-27444298	MCF10A-Er-Src	breast:	n/a
50	chr10:27444248-27444298	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:27442755..27444375-chr10:27457969..27459469,2	K562	blood:
2	chr10:27149519..27151430-chr10:27442633..27444807,2	K562	blood:
3	chr10:27444088..27444724-chr19:49140196..49141060,2	NB4	blood:
4	chr10:27442535..27445982-chr10:27528407..27534290,13	K562	blood:
5	chr1:145382389..145383023-chr10:27444086..27444882,2	Hela-S3	cervix:
6	chr10:27441850..27444956-chr10:27527496..27532549,10	MCF-7	breast:
7	chr10:27442115..27444569-chr10:27537853..27541412,3	K562	blood:
8	chr10:27443287..27444263-chr12:7080135..7080687,2	Hela-S3	cervix:
9	chr10:27442176..27446829-chr10:27524472..27534671,19	K562	blood:
10	chr10:27422874..27425974-chr10:27441725..27444427,3	K562	blood:
11	chr10:27441114..27446089-chr10:27527560..27532728,23	MCF-7	breast:
12	chr10:27443863..27444566-chr13:22177641..22178350,2	NB4	blood:

Variant related genes	Relation type
MASTL	TF binding region
YME1L1	TF binding region
MASTL	CpG island
YME1L1	CpG island
ENSG00000233396	Chromatin interaction
ENSG00000136758	Chromatin interaction
ENSG00000263577	Chromatin interaction
ENSG00000262412	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000136754	Chromatin interaction
ENSG00000126749	Chromatin interaction
ENSG00000105516	Chromatin interaction
ENSG00000120539	Chromatin interaction
ENSG00000165487	Chromatin interaction
ENSG00000230445	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1002351	0.91[ASN][1000 genomes]
rs10159601	0.93[ASN][1000 genomes]
rs10466100	0.95[ASN][1000 genomes]
rs10764681	1.00[ASN][1000 genomes]
rs10764682	1.00[ASN][1000 genomes]
rs10764687	1.00[ASN][1000 genomes]
rs10829187	0.90[ASN][1000 genomes]
rs10829189	0.90[ASN][1000 genomes]
rs10829196	0.93[ASN][1000 genomes]
rs10829209	0.95[ASN][1000 genomes]
rs10829214	0.91[ASN][1000 genomes]
rs10829215	0.91[ASN][1000 genomes]
rs10829216	0.91[ASN][1000 genomes]
rs11015562	0.93[ASN][1000 genomes]
rs11015602	0.96[ASN][1000 genomes]
rs11015607	0.95[ASN][1000 genomes]
rs11015608	0.95[ASN][1000 genomes]
rs11015609	0.95[ASN][1000 genomes]
rs11015610	0.95[ASN][1000 genomes]
rs11015611	0.95[ASN][1000 genomes]
rs11015612	0.95[ASN][1000 genomes]
rs11015614	0.91[ASN][1000 genomes]
rs11015615	0.91[ASN][1000 genomes]
rs11813084	0.95[ASN][1000 genomes]
rs11813101	0.95[ASN][1000 genomes]
rs11816764	0.95[ASN][1000 genomes]
rs11816767	0.95[ASN][1000 genomes]
rs11818136	0.95[ASN][1000 genomes]
rs12098587	0.91[ASN][1000 genomes]
rs12098618	0.91[ASN][1000 genomes]
rs12240963	0.87[ASN][1000 genomes]
rs12241350	0.95[ASN][1000 genomes]
rs12243607	0.91[ASN][1000 genomes]
rs12244182	0.83[ASN][1000 genomes]
rs12246088	0.95[ASN][1000 genomes]
rs12246158	0.95[ASN][1000 genomes]
rs12247183	0.95[ASN][1000 genomes]
rs12251316	0.91[ASN][1000 genomes]
rs12253696	0.91[ASN][1000 genomes]
rs12257786	0.91[ASN][1000 genomes]
rs12259138	0.95[ASN][1000 genomes]
rs12259499	0.91[ASN][1000 genomes]
rs12261094	0.91[ASN][1000 genomes]
rs12262674	0.91[ASN][1000 genomes]
rs12268796	0.91[ASN][1000 genomes]
rs1557163	0.91[ASN][1000 genomes]
rs1557164	0.91[ASN][1000 genomes]
rs1557165	0.91[ASN][1000 genomes]
rs1557166	0.91[ASN][1000 genomes]
rs16927640	0.95[ASN][1000 genomes]
rs16927646	0.91[ASN][1000 genomes]
rs2275751	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34037342	0.95[ASN][1000 genomes]
rs34613194	0.95[ASN][1000 genomes]
rs34856168	0.95[ASN][1000 genomes]
rs36121140	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780923	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3818962	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3818965	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3818968	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3824692	1.00[EUR][1000 genomes]
rs41314978	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4747582	1.00[EUR][1000 genomes]
rs55872244	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55884764	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57096075	0.95[ASN][1000 genomes]
rs57470366	0.95[ASN][1000 genomes]
rs57704178	0.95[ASN][1000 genomes]
rs58326983	0.95[ASN][1000 genomes]
rs58649395	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58843203	0.95[ASN][1000 genomes]
rs59116633	0.95[ASN][1000 genomes]
rs59638069	0.95[ASN][1000 genomes]
rs59935135	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59947739	0.81[ASN][1000 genomes]
rs61216393	1.00[EUR][1000 genomes]
rs61686723	0.91[ASN][1000 genomes]
rs6482605	0.95[ASN][1000 genomes]
rs6482606	0.95[ASN][1000 genomes]
rs6482609	0.91[ASN][1000 genomes]
rs6482610	0.91[ASN][1000 genomes]
rs6482611	0.91[ASN][1000 genomes]
rs6482612	0.91[ASN][1000 genomes]
rs7068182	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7068463	0.95[ASN][1000 genomes]
rs7072412	0.95[ASN][1000 genomes]
rs7074120	0.95[ASN][1000 genomes]
rs7084392	0.95[ASN][1000 genomes]
rs7084515	0.95[ASN][1000 genomes]
rs7085266	0.95[ASN][1000 genomes]
rs7090639	0.95[ASN][1000 genomes]
rs7358044	0.91[ASN][1000 genomes]
rs7358057	0.91[ASN][1000 genomes]
rs74126939	0.95[ASN][1000 genomes]
rs74126942	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74126943	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74126946	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74126948	1.00[EUR][1000 genomes]
rs7897124	0.87[ASN][1000 genomes]
rs7898083	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7898338	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7898820	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7900802	0.95[ASN][1000 genomes]
rs7902900	0.89[ASN][1000 genomes]
rs7903450	0.91[ASN][1000 genomes]
rs7904576	0.86[ASN][1000 genomes]
rs7906528	0.91[ASN][1000 genomes]
rs7907326	0.91[ASN][1000 genomes]
rs7908434	0.91[ASN][1000 genomes]
rs7909359	0.95[ASN][1000 genomes]
rs7910142	0.95[ASN][1000 genomes]
rs7912056	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7913638	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7914017	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7920178	1.00[ASN][1000 genomes]
rs7920608	0.93[ASN][1000 genomes]
rs7923708	0.95[ASN][1000 genomes]
rs7923846	0.95[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	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr10:27441200-27445800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr10:27441200-27446200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr10:27441200-27446200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr10:27441200-27446200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:27441200-27446400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr10:27441200-27446400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr10:27441200-27446400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:27441600-27445400	Active TSS	Aorta	Aorta
9	chr10:27441600-27445600	Active TSS	Right Atrium	heart
10	chr10:27441600-27446200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr10:27441800-27444400	Active TSS	Psoas Muscle	Psoas
12	chr10:27441800-27445400	Active TSS	HSMMtube	muscle
13	chr10:27441800-27445600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:27441800-27446000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr10:27441800-27446200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr10:27442000-27444400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:27442000-27444600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:27442000-27445000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:27442000-27445200	Active TSS	Lung	lung
20	chr10:27442000-27445400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr10:27442000-27445400	Active TSS	Left Ventricle	heart
22	chr10:27442000-27445400	Active TSS	Right Ventricle	heart
23	chr10:27442000-27445400	Active TSS	NHEK	skin
24	chr10:27442000-27445600	Active TSS	Colonic Mucosa	Colon
25	chr10:27442000-27445600	Active TSS	HSMM	muscle
26	chr10:27442000-27445600	Active TSS	NHLF	lung
27	chr10:27442000-27445800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr10:27442000-27445800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:27442000-27445800	Active TSS	A549	lung
30	chr10:27442000-27446000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:27442000-27446000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:27442000-27446000	Active TSS	Muscle Satellite Cultured Cells	--
33	chr10:27442000-27446000	Active TSS	NHDF-Ad	bronchial
34	chr10:27442000-27446200	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr10:27442000-27446200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr10:27442000-27446200	Active TSS	GM12878-XiMat	blood
37	chr10:27442000-27446200	Active TSS	Hela-S3	cervix
38	chr10:27442200-27444400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr10:27442200-27444400	Active TSS	Brain Substantia Nigra	brain
40	chr10:27442200-27444400	Active TSS	Duodenum Mucosa	Duodenum
41	chr10:27442200-27444400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr10:27442200-27444400	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr10:27442200-27444400	Active TSS	Stomach Smooth Muscle	stomach
44	chr10:27442200-27444600	Active TSS	Brain Anterior Caudate	brain
45	chr10:27442200-27444600	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr10:27442200-27444600	Active TSS	Fetal Stomach	stomach
47	chr10:27442200-27444600	Active TSS	Stomach Mucosa	stomach
48	chr10:27442200-27445200	Active TSS	Fetal Brain Male	brain
49	chr10:27442200-27445200	Active TSS	Ovary	ovary
50	chr10:27442200-27445400	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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