Variant report

Variant	rs8006078
Chromosome Location	chr14:24299737-24299738
allele	A/C
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	JUND	chr14:24299076-24299827	SK-N-SH	brain:	n/a	chr14:24299425-24299436
2	FOSL2	chr14:24299112-24299899	MCF-7	breast:	n/a	chr14:24299424-24299435
3	JUND	chr14:24299148-24299820	SK-N-SH	brain:	n/a	chr14:24299425-24299436
4	SP1	chr14:24299173-24299830	A549	lung:	n/a	n/a
5	TCF12	chr14:24299172-24299880	SK-N-SH	brain:	n/a	n/a
6	MAX	chr14:24299331-24299832	HCT-116	colon:	n/a	n/a
7	FOSL2	chr14:24299153-24299844	A549	lung:	n/a	chr14:24299424-24299435
8	FOSL2	chr14:24299166-24299844	SK-N-SH	brain:	n/a	chr14:24299424-24299435
9	FOSL2	chr14:24299207-24299836	MCF-7	breast:	n/a	chr14:24299424-24299435
10	GATA3	chr14:24299157-24299898	MCF-7	breast:	n/a	n/a
11	SP1	chr14:24299302-24299818	A549	lung:	n/a	n/a
12	TCF12	chr14:24299257-24299832	A549	lung:	n/a	n/a
13	JUND	chr14:24299190-24299925	MCF-7	breast:	n/a	chr14:24299425-24299436
14	EP300	chr14:24299132-24299859	SK-N-SH	brain:	n/a	n/a
15	EP300	chr14:24299178-24299744	MCF-7	breast:	n/a	n/a
16	GATA3	chr14:24299305-24299867	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr14:24299054-24300099	MCF-7	breast:	n/a	n/a
18	NFIC	chr14:24299167-24299787	SK-N-SH	brain:	n/a	n/a
19	TEAD4	chr14:24299305-24299758	HCT-116	colon:	n/a	n/a
20	STAT3	chr14:24299422-24299896	MCF10A-Er-Src	breast:	n/a	n/a
21	FOSL1	chr14:24299307-24299816	HCT-116	colon:	n/a	n/a
22	MAX	chr14:24299277-24299826	A549	lung:	n/a	n/a
23	GATA3	chr14:24299169-24299898	SK-N-SH	brain:	n/a	n/a
24	SP1	chr14:24299178-24299898	HCT-116	colon:	n/a	n/a
25	JUN	chr14:24299276-24299998	Hela-S3	cervix:	n/a	n/a
26	NR2F2	chr14:24299270-24299992	MCF-7	breast:	n/a	n/a
27	TCF12	chr14:24299159-24299853	SK-N-SH	brain:	n/a	n/a
28	FOXM1	chr14:24299281-24299969	MCF-7	breast:	n/a	n/a
29	EP300	chr14:24299338-24299802	Hela-S3	cervix:	n/a	n/a
30	EP300	chr14:24299288-24299806	A549	lung:	n/a	n/a
31	TEAD4	chr14:24299321-24299772	ECC-1	luminal epithelium:	n/a	n/a
32	FOS	chr14:24299116-24299910	MCF10A-Er-Src	breast:	n/a	chr14:24299516-24299527
33	HDAC2	chr14:24299300-24299742	MCF-7	breast:	n/a	n/a
34	SP1	chr14:24299189-24299894	HCT-116	colon:	n/a	n/a
35	TEAD4	chr14:24299319-24299754	ECC-1	luminal epithelium:	n/a	n/a
36	FOSL1	chr14:24299117-24299925	HCT-116	colon:	n/a	n/a
37	MAX	chr14:24299311-24299744	ECC-1	luminal epithelium:	n/a	n/a
38	TEAD4	chr14:24299323-24299743	MCF-7	breast:	n/a	n/a
39	JUND	chr14:24299249-24299901	Hela-S3	cervix:	n/a	chr14:24299425-24299436
40	FOS	chr14:24299249-24299745	MCF10A-Er-Src	breast:	n/a	chr14:24299516-24299527
41	TEAD4	chr14:24299330-24299754	A549	lung:	n/a	n/a
42	JUND	chr14:24299122-24299879	HCT-116	colon:	n/a	chr14:24299425-24299436
43	JUND	chr14:24299101-24299836	HCT-116	colon:	n/a	chr14:24299425-24299436
44	EP300	chr14:24299265-24299855	A549	lung:	n/a	n/a
45	NR2F2	chr14:24299322-24299944	MCF-7	breast:	n/a	n/a
46	CHD1	chr14:24298886-24299852	IMR90	lung:	n/a	n/a
47	JUND	chr14:24299289-24299913	MCF-7	breast:	n/a	chr14:24299425-24299436
48	GATA3	chr14:24299091-24299914	A549	lung:	n/a	n/a
49	CEBPB	chr14:24299322-24299818	Hela-S3	cervix:	n/a	n/a
50	FOS	chr14:24299241-24299953	MCF10A-Er-Src	breast:	n/a	chr14:24299516-24299527

No.	Distal block	Cell Line	Cell type
1	chr14:24293571..24296488-chr14:24298769..24300943,3	MCF-7	breast:
2	chr14:24293705..24296487-chr14:24298794..24300762,2	K562	blood:
3	chr14:24285592..24288155-chr14:24298380..24300344,2	K562	blood:

Variant related genes	Relation type
ENSG00000258887	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17097763	1.00[AMR][1000 genomes]
rs2332142	1.00[AMR][1000 genomes]
rs74038887	1.00[AMR][1000 genomes]
rs74038894	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	nsv1043299	chr14:23766696-24351724	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	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
3	nsv564045	chr14:24224245-24348343	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv901494	chr14:24243637-24386159	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24295800-24302000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:24296400-24299800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:24296400-24302000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr14:24296400-24302000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:24296600-24301200	Enhancers	HSMMtube	muscle
6	chr14:24296600-24301800	Enhancers	HSMM	muscle
7	chr14:24297200-24301000	Enhancers	Hela-S3	cervix
8	chr14:24297400-24301600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr14:24297600-24299800	Enhancers	Rectal Smooth Muscle	rectum
10	chr14:24297600-24300400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:24297600-24300400	Weak transcription	Ovary	ovary
12	chr14:24298200-24300200	Enhancers	NHDF-Ad	bronchial
13	chr14:24298400-24300000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:24298400-24300000	Enhancers	HMEC	breast
15	chr14:24298400-24300600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:24298600-24300000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:24298600-24300000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:24298600-24300000	Enhancers	HUVEC	blood vessel
19	chr14:24298600-24300000	Enhancers	NH-A	brain
20	chr14:24298600-24300000	Enhancers	NHEK	skin
21	chr14:24298600-24300200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:24298600-24300600	Enhancers	Osteobl	bone
23	chr14:24298800-24300800	Weak transcription	Small Intestine	intestine
24	chr14:24298800-24301000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr14:24299000-24300400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr14:24299200-24301000	Enhancers	A549	lung
27	chr14:24299200-24302000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:24299600-24300200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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