Variant report

Variant	rs9989144
Chromosome Location	chr14:71610297-71610298
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	STAT3	chr14:71610034-71610623	Hela-S3	cervix:	n/a	chr14:71610162-71610173
2	CHD2	chr14:71610059-71610709	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr14:71609816-71610808	MCF10A-Er-Src	breast:	n/a	chr14:71610782-71610794 chr14:71610162-71610173
4	POLR2A	chr14:71608374-71610613	IMR90	lung:	n/a	n/a
5	POLR2A	chr14:71609615-71610502	Hela-S3	cervix:	n/a	n/a
6	MYC	chr14:71609002-71610361	NB4	blood:	n/a	chr14:71609123-71609134
7	FOS	chr14:71609896-71610827	MCF10A-Er-Src	breast:	n/a	chr14:71610472-71610483
8	NR3C1	chr14:71610105-71610621	A549	lung:	n/a	chr14:71610280-71610298
9	JUN	chr14:71610290-71610696	K562	blood:	n/a	n/a
10	FOSL2	chr14:71610216-71610650	HepG2	liver:	n/a	chr14:71610471-71610482
11	FOSL1	chr14:71610234-71610586	K562	blood:	n/a	n/a
12	RUNX3	chr14:71610018-71610451	GM12878	blood:	n/a	n/a
13	SMC3	chr14:71610133-71610632	Hela-S3	cervix:	n/a	n/a
14	STAT3	chr14:71609818-71610476	MCF10A-Er-Src	breast:	n/a	chr14:71610162-71610173
15	JUND	chr14:71610291-71610614	H1-hESC	embryonic stem cell:	n/a	chr14:71610472-71610483
16	RAD21	chr14:71610071-71610639	Hela-S3	cervix:	n/a	chr14:71610166-71610175
17	RCOR1	chr14:71610067-71610720	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr14:71610095-71611033	IMR90	lung:	n/a	n/a
19	FOXA1	chr14:71610173-71610568	HepG2	liver:	n/a	n/a
20	NR3C1	chr14:71610025-71610602	A549	lung:	n/a	chr14:71610280-71610298
21	BHLHE40	chr14:71610027-71610482	K562	blood:	n/a	n/a
22	EP300	chr14:71610289-71610585	SK-N-SH_RA	brain:	n/a	n/a
23	MAZ	chr14:71610254-71610436	Hela-S3	cervix:	n/a	n/a
24	JUND	chr14:71610225-71610614	HepG2	liver:	n/a	chr14:71610472-71610483
25	FOXA1	chr14:71610178-71610590	HepG2	liver:	n/a	n/a
26	STAT1	chr14:71608842-71610894	Hela-S3	cervix:	n/a	chr14:71610782-71610794 chr14:71609096-71609119 chr14:71609639-71609651 chr14:71609460-71609468
27	FOS	chr14:71609980-71610709	MCF10A-Er-Src	breast:	n/a	chr14:71610472-71610483
28	EP300	chr14:71610148-71610634	HepG2	liver:	n/a	n/a
29	USF2	chr14:71609943-71610714	Hela-S3	cervix:	n/a	chr14:71610532-71610543
30	POLR2A	chr14:71598899-71610758	MCF10A-Er-Src	breast:	n/a	n/a
31	MAZ	chr14:71610123-71610872	K562	blood:	n/a	chr14:71610776-71610786
32	RCOR1	chr14:71610163-71610668	K562	blood:	n/a	n/a
33	MYC	chr14:71610007-71610694	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr14:71608663-71610960	MCF10A-Er-Src	breast:	n/a	chr14:71609157-71609167 chr14:71609157-71609167 chr14:71609157-71609167 chr14:71610472-71610483
35	GATA3	chr14:71610159-71610984	MCF-7	breast:	n/a	n/a
36	FOXA2	chr14:71610230-71610551	HepG2	liver:	n/a	n/a
37	EP300	chr14:71610040-71610704	Hela-S3	cervix:	n/a	n/a
38	JUN	chr14:71610275-71610669	K562	blood:	n/a	n/a
39	CEBPB	chr14:71610014-71611013	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr14:71610240-71610390	HMF	breast:	n/a	n/a
41	JUND	chr14:71610144-71610680	HepG2	liver:	n/a	chr14:71610472-71610483
42	NFYA	chr14:71609968-71610656	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr14:71609817-71610379	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr14:71610193-71610387	Hela-S3	cervix:	n/a	n/a
45	FOSL2	chr14:71610087-71610743	MCF-7	breast:	n/a	chr14:71610471-71610482
46	FOSL2	chr14:71610272-71610590	A549	lung:	n/a	chr14:71610471-71610482
47	MYC	chr14:71610264-71610627	K562	blood:	n/a	n/a
48	RFX5	chr14:71610097-71610585	Hela-S3	cervix:	n/a	n/a
49	FOS	chr14:71610227-71610720	HUVEC	blood vessel:	n/a	chr14:71610472-71610483
50	FOS	chr14:71610014-71610632	Hela-S3	cervix:	n/a	chr14:71610472-71610483

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71609565..71610435-chr14:73603108..73603774,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000269927	TF binding region
ENSG00000080815	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10142779	1.00[YRI][hapmap]
rs10144794	1.00[YRI][hapmap]
rs10150546	1.00[YRI][hapmap]
rs10162544	1.00[YRI][hapmap]
rs13379253	1.00[YRI][hapmap]
rs17108786	1.00[YRI][hapmap]
rs9806048	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised 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	24 gene(s)	inside rSNPs	diseases
7	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv565043	chr14:71395604-71625112	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1036929	chr14:71469148-71683412	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71605600-71613200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:71605600-71613400	Enhancers	Placenta	Placenta
3	chr14:71606200-71610800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:71606600-71614800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:71607200-71610800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:71607600-71610800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr14:71607800-71610800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:71607800-71610800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:71607800-71610800	Enhancers	NHDF-Ad	bronchial
10	chr14:71608000-71611200	Enhancers	Primary B cells from cord blood	blood
11	chr14:71608200-71610800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:71608200-71610800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:71608200-71610800	Enhancers	Osteobl	bone
14	chr14:71608400-71610400	Enhancers	Primary hematopoietic stem cells	blood
15	chr14:71608400-71610600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr14:71608400-71610600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:71608400-71610800	Enhancers	Primary T cells from cord blood	blood
18	chr14:71608400-71610800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr14:71608400-71610800	Enhancers	HepG2	liver
20	chr14:71608400-71610800	Enhancers	HMEC	breast
21	chr14:71608400-71610800	Enhancers	HSMM	muscle
22	chr14:71608400-71611000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:71608600-71610400	Flanking Active TSS	NHEK	skin
24	chr14:71608600-71610600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:71608600-71610800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:71608600-71610800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr14:71608600-71611000	Enhancers	Dnd41	blood
28	chr14:71608800-71610400	Enhancers	HUVEC	blood vessel
29	chr14:71608800-71610600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:71608800-71610600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr14:71608800-71610800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:71608800-71610800	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr14:71609000-71610400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:71609000-71610400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr14:71609000-71610600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr14:71609000-71610800	Enhancers	K562	blood
37	chr14:71609000-71611000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:71609200-71610800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:71609400-71610600	Enhancers	Duodenum Mucosa	Duodenum
40	chr14:71609400-71611000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:71609800-71613000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr14:71610000-71610400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:71610000-71610400	Enhancers	Spleen	Spleen
44	chr14:71610000-71610400	Enhancers	NHLF	lung
45	chr14:71610000-71610600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr14:71610000-71610600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr14:71610000-71610600	Enhancers	Brain Anterior Caudate	brain
48	chr14:71610000-71610600	Enhancers	Fetal Muscle Leg	muscle
49	chr14:71610000-71610600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr14:71610000-71610600	Enhancers	Small Intestine	intestine

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