Variant report

Variant	rs74126916
Chromosome Location	chr10:27442398-27442399
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	MXI1	chr10:27442288-27445640	SK-N-SH	brain:	n/a	n/a
2	CHD1	chr10:27441735-27445646	IMR90	lung:	n/a	n/a
3	CEBPB	chr10:27442287-27442622	HepG2	liver:	n/a	chr10:27442359-27442370
4	CEBPB	chr10:27442324-27442617	A549	lung:	n/a	chr10:27442359-27442370
5	GABPA	chr10:27442361-27444712	MCF-7	breast:	n/a	chr10:27444258-27444267
6	POLR2A	chr10:27441467-27445416	K562	blood:	n/a	n/a
7	REST	chr10:27442259-27444628	H1-neurons	neurons:	n/a	n/a
8	SIN3A	chr10:27442349-27445317	H1-hESC	embryonic stem cell:	n/a	chr10:27442791-27442805
9	CEBPB	chr10:27442297-27444496	Hela-S3	cervix:	n/a	chr10:27442359-27442370
10	POLR2A	chr10:27441880-27445789	IMR90	lung:	n/a	n/a
11	SREBP2	chr10:27442135-27445500	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:27442348-27445465	GM12878	blood:	n/a	n/a
13	CEBPB	chr10:27442355-27442591	H1-hESC	embryonic stem cell:	n/a	chr10:27442359-27442370
14	CEBPB	chr10:27442285-27444315	IMR90	lung:	n/a	chr10:27442359-27442370
15	CEBPB	chr10:27442264-27442606	K562	blood:	n/a	chr10:27442359-27442370
16	CHD1	chr10:27441859-27444940	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:27426913..27428893-chr10:27439764..27442698,2	MCF-7	breast:
2	chr10:27441850..27444956-chr10:27527496..27532549,10	MCF-7	breast:
3	chr10:27442115..27444569-chr10:27537853..27541412,3	K562	blood:
4	chr10:27442176..27446829-chr10:27524472..27534671,19	K562	blood:
5	chr10:27422874..27425974-chr10:27441725..27444427,3	K562	blood:
6	chr10:27441114..27446089-chr10:27527560..27532728,23	MCF-7	breast:

Variant related genes	Relation type
MASTL	TF binding region
ENSG00000230445	Chromatin interaction
ENSG00000263577	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000136758	Chromatin interaction
ENSG00000262412	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs56151272	1.00[AMR][1000 genomes]
rs56308206	1.00[AMR][1000 genomes]
rs57014158	1.00[AMR][1000 genomes]
rs57474151	1.00[AMR][1000 genomes]
rs59089651	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61279215	1.00[AMR][1000 genomes]
rs61337510	1.00[AMR][1000 genomes]
rs61378633	1.00[AMR][1000 genomes]
rs61589213	1.00[AMR][1000 genomes]
rs74126903	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126904	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126906	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126911	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126917	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126918	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126945	1.00[AMR][1000 genomes]
rs74128532	1.00[AMR][1000 genomes]
rs74128537	1.00[AMR][1000 genomes]
rs74128539	1.00[AMR][1000 genomes]
rs74128547	1.00[AMR][1000 genomes]
rs74128548	1.00[AMR][1000 genomes]
rs74128550	1.00[AMR][1000 genomes]
rs74128551	1.00[AMR][1000 genomes]
rs74128552	1.00[AMR][1000 genomes]
rs74128554	1.00[AMR][1000 genomes]
rs74128556	1.00[AMR][1000 genomes]
rs74128557	1.00[AMR][1000 genomes]
rs74128559	1.00[AMR][1000 genomes]
rs74128561	1.00[AMR][1000 genomes]
rs74128563	1.00[AMR][1000 genomes]
rs74128570	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128571	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128573	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128575	0.81[AFR][1000 genomes];1.00[AMR][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	chr10:27435600-27442400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:27437400-27442600	Weak transcription	Gastric	stomach
3	chr10:27437400-27442800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:27438000-27442600	Weak transcription	Pancreas	Pancrea
5	chr10:27438600-27442600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:27438600-27442600	Weak transcription	Esophagus	oesophagus
7	chr10:27438800-27442400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr10:27438800-27442400	Weak transcription	Placenta	Placenta
9	chr10:27440600-27442400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:27440800-27442400	Flanking Active TSS	Dnd41	blood
11	chr10:27441200-27442400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr10:27441200-27442400	Enhancers	Primary B cells from peripheral blood	blood
13	chr10:27441200-27442400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr10:27441200-27442400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:27441200-27442400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr10:27441200-27442400	Flanking Active TSS	HUVEC	blood vessel
17	chr10:27441200-27442600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr10:27441200-27442600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr10:27441200-27443000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:27441200-27445800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:27441200-27446200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr10:27441200-27446200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr10:27441200-27446200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr10:27441200-27446400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr10:27441200-27446400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr10:27441200-27446400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:27441400-27442400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr10:27441400-27442400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr10:27441400-27442400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr10:27441400-27442400	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr10:27441400-27442400	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr10:27441400-27442400	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr10:27441400-27442400	Enhancers	Small Intestine	intestine
34	chr10:27441400-27442600	Flanking Active TSS	Liver	Liver
35	chr10:27441400-27442800	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr10:27441400-27442800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:27441400-27442800	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr10:27441400-27443000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr10:27441600-27442400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr10:27441600-27442400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr10:27441600-27442600	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr10:27441600-27442800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr10:27441600-27442800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr10:27441600-27443000	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr10:27441600-27445400	Active TSS	Aorta	Aorta
46	chr10:27441600-27445600	Active TSS	Right Atrium	heart
47	chr10:27441600-27446200	Active TSS	H9 Cell Line	embryonic stem cell
48	chr10:27441800-27442600	Active TSS	HepG2	liver
49	chr10:27441800-27442800	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr10:27441800-27444000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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