Variant report

Variant	rs10139346
Chromosome Location	chr14:24631461-24631462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr14:24629737-24631848	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:24629795-24635666	GM12891	blood:	n/a	n/a
3	RELA	chr14:24630153-24631578	GM10847	blood:	n/a	n/a
4	CHD1	chr14:24630148-24631488	GM12878	blood:	n/a	n/a
5	ELF1	chr14:24631263-24631661	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:24629745-24631760	GM12892	blood:	n/a	n/a
7	POLR2A	chr14:24631193-24631690	GM12878	blood:	n/a	n/a
8	ELF1	chr14:24631245-24631636	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:24629970-24631500	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr14:24629914-24631738	HUVEC	blood vessel:	n/a	n/a
11	SIN3A	chr14:24630198-24631534	GM12878	blood:	n/a	chr14:24630400-24630409 chr14:24630290-24630299
12	CTCF	chr14:24629630-24631626	SK-N-SH	brain:	n/a	chr14:24630358-24630379 chr14:24630368-24630376 chr14:24630364-24630380 chr14:24629963-24629970 chr14:24630363-24630381 chr14:24630365-24630378
13	POLR2A	chr14:24630052-24631473	K562	blood:	n/a	n/a
14	MXI1	chr14:24631365-24631703	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:24630022-24631491	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr14:24630151-24631579	K562	blood:	n/a	n/a
17	PML	chr14:24629932-24631724	GM12878	blood:	n/a	n/a
18	RCOR1	chr14:24629985-24631481	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:24629861-24631647	GM18951	blood:	n/a	n/a
20	RELA	chr14:24630031-24631536	GM19099	blood:	n/a	n/a
21	POU2F2	chr14:24631265-24631580	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:24630137-24631584	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr14:24629746-24631739	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:24631302-24631529	Hela-S3	cervix:	n/a	n/a
25	MTA3	chr14:24629993-24631719	GM12878	blood:	n/a	n/a
26	POLR2A	chr14:24629774-24631951	GM12878	blood:	n/a	n/a
27	POLR2A	chr14:24628953-24638117	GM12892	blood:	n/a	n/a
28	MBD4	chr14:24629654-24631685	HepG2	liver:	n/a	n/a
29	ELK1	chr14:24631348-24631548	GM12878	blood:	n/a	n/a
30	POU2F2	chr14:24630050-24631576	GM12878	blood:	n/a	chr14:24630315-24630327
31	RUNX3	chr14:24629985-24631714	GM12878	blood:	n/a	n/a
32	POLR2A	chr14:24629774-24632083	HepG2	liver:	n/a	n/a
33	WRNIP1	chr14:24630038-24631696	GM12878	blood:	n/a	n/a
34	POLR2A	chr14:24630032-24631632	GM15510	blood:	n/a	n/a
35	POLR2A	chr14:24631354-24631539	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:24630091-24631661	GM12878	blood:	n/a	n/a
37	POLR2A	chr14:24629995-24631732	GM18526	blood:	n/a	n/a
38	POLR2A	chr14:24629875-24631803	GM18505	blood:	n/a	n/a
39	MYBL2	chr14:24629790-24631630	HepG2	liver:	n/a	n/a
40	POLR2A	chr14:24631419-24631478	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr14:24631196-24631556	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr14:24629145-24631784	GM19193	blood:	n/a	n/a
43	FOSL2	chr14:24630024-24631615	HepG2	liver:	n/a	n/a
44	POLR2A	chr14:24631296-24631773	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr14:24629979-24631840	GM12892	blood:	n/a	n/a
46	POLR2A	chr14:24629682-24632834	GM12891	blood:	n/a	n/a
47	POLR2A	chr14:24631272-24631635	ProgFib	skin:	n/a	n/a
48	NFIC	chr14:24629956-24631710	GM12878	blood:	n/a	n/a
49	CEBPB	chr14:24629944-24631478	GM12878	blood:	n/a	chr14:24631206-24631219
50	NFATC1	chr14:24629943-24631761	GM12878	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24628958..24631680-chr14:24640156..24642572,2	K562	blood:
2	chr14:24629249..24631887-chr14:24767463..24769864,3	MCF-7	breast:
3	chr14:24624836..24627996-chr14:24628785..24631858,4	K562	blood:
4	chr14:24628913..24631680-chr14:24639494..24642572,3	K562	blood:
5	chr14:24629652..24632387-chr14:24633563..24637546,5	K562	blood:
6	chr14:24609162..24612471-chr14:24628038..24632357,4	K562	blood:
7	chr14:24616215..24619153-chr14:24627779..24631890,5	K562	blood:
8	chr14:24563238..24566404-chr14:24628642..24631690,5	MCF-7	breast:
9	chr14:24629039..24631896-chr14:24646822..24648474,2	K562	blood:
10	chr14:24615467..24617624-chr14:24629308..24633322,3	K562	blood:
11	chr14:24624836..24626476-chr14:24629035..24631545,2	K562	blood:
12	chr14:24629199..24631872-chr14:24798413..24800219,2	MCF-7	breast:
13	chr14:24630385..24632878-chr14:24633609..24637546,6	K562	blood:
14	chr14:24613791..24615976-chr14:24629149..24631739,3	K562	blood:
15	chr14:24627382..24636644-chr14:24680297..24686914,11	MCF-7	breast:
16	chr14:24581560..24585367-chr14:24626129..24634058,10	MCF-7	breast:
17	chr14:24629462..24633065-chr14:24656618..24659351,3	K562	blood:
18	chr14:24628862..24633065-chr14:24656261..24659048,5	K562	blood:

No data

Variant related genes	Relation type
IRF9	TF binding region
ENSG00000100897	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000100918	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000199804	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000092098	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28407773	1.00[AMR][1000 genomes]
rs28589355	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24628800-24631800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:24628800-24632600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:24629800-24632800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:24630000-24632000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr14:24630000-24632600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
6	chr14:24630200-24631600	Flanking Active TSS	Fetal Lung	lung
7	chr14:24630200-24631600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr14:24630200-24631600	Transcr. at gene 5' and 3'	NHEK	skin
9	chr14:24630200-24631800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
10	chr14:24630200-24632800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
11	chr14:24630400-24631600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:24630400-24631600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:24630400-24631600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr14:24630400-24631600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
15	chr14:24630400-24631600	Flanking Active TSS	Placenta	Placenta
16	chr14:24630400-24631600	Flanking Active TSS	HMEC	breast
17	chr14:24630400-24631600	Flanking Active TSS	HSMM	muscle
18	chr14:24630400-24631600	Flanking Active TSS	HUVEC	blood vessel
19	chr14:24630400-24631600	Active TSS	NHDF-Ad	bronchial
20	chr14:24630400-24631800	Active TSS	Ovary	ovary
21	chr14:24630400-24631800	Active TSS	Right Atrium	heart
22	chr14:24630400-24631800	Active TSS	Small Intestine	intestine
23	chr14:24630400-24631800	Transcr. at gene 5' and 3'	NHLF	lung
24	chr14:24630400-24632000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:24630400-24632000	Active TSS	Colonic Mucosa	Colon
26	chr14:24630400-24632200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:24630600-24631600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:24630600-24631600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr14:24630800-24631600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:24630800-24631600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:24630800-24631600	Active TSS	Brain Germinal Matrix	brain
32	chr14:24630800-24631600	Active TSS	Fetal Brain Male	brain
33	chr14:24630800-24632000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr14:24631000-24631600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:24631000-24631600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr14:24631000-24631600	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
37	chr14:24631000-24631600	Active TSS	Psoas Muscle	Psoas
38	chr14:24631000-24631600	Flanking Active TSS	Stomach Mucosa	stomach
39	chr14:24631000-24631600	Flanking Active TSS	HepG2	liver
40	chr14:24631000-24631600	Flanking Active TSS	Osteobl	bone
41	chr14:24631000-24631800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr14:24631000-24631800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr14:24631000-24631800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr14:24631000-24631800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr14:24631000-24631800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:24631000-24631800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:24631000-24631800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr14:24631000-24631800	Flanking Active TSS	Liver	Liver
49	chr14:24631000-24631800	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr14:24631000-24631800	Flanking Active TSS	Brain Hippocampus Middle	brain

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