Variant report

Variant	rs17016045
Chromosome Location	chr4:143328965-143328966
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	CHD2	chr4:143328801-143329781	Hela-S3	cervix:	n/a	n/a
2	EP300	chr4:143328928-143329772	SK-N-SH	brain:	n/a	chr4:143329212-143329221 chr4:143329213-143329222 chr4:143329415-143329429
3	CEBPB	chr4:143328758-143329568	ECC-1	luminal epithelium:	n/a	n/a
4	STAT3	chr4:143328547-143329620	MCF10A-Er-Src	breast:	n/a	chr4:143328569-143328589 chr4:143328572-143328586 chr4:143328575-143328583 chr4:143329212-143329221 chr4:143329213-143329222
5	CEBPB	chr4:143328675-143329756	A549	lung:	n/a	n/a
6	SP1	chr4:143328783-143329834	A549	lung:	n/a	n/a
7	FOSL2	chr4:143328720-143329729	A549	lung:	n/a	chr4:143329213-143329221 chr4:143329213-143329222 chr4:143329214-143329221
8	CEBPB	chr4:143328829-143329661	A549	lung:	n/a	n/a
9	EP300	chr4:143328866-143329802	A549	lung:	n/a	chr4:143329212-143329221 chr4:143329213-143329222 chr4:143329415-143329429
10	EP300	chr4:143328688-143329847	A549	lung:	n/a	chr4:143329212-143329221 chr4:143329213-143329222 chr4:143329415-143329429
11	FOS	chr4:143328862-143329510	MCF10A-Er-Src	breast:	n/a	chr4:143329213-143329221 chr4:143329213-143329222 chr4:143329214-143329221
12	STAT3	chr4:143328413-143329597	MCF10A-Er-Src	breast:	n/a	chr4:143328569-143328589 chr4:143328572-143328586 chr4:143328575-143328583 chr4:143329212-143329221 chr4:143329213-143329222
13	FOS	chr4:143328935-143329541	HUVEC	blood vessel:	n/a	chr4:143329213-143329221 chr4:143329213-143329222 chr4:143329214-143329221
14	FOS	chr4:143328823-143330281	MCF10A-Er-Src	breast:	n/a	chr4:143329213-143329221 chr4:143329213-143329222 chr4:143329214-143329221 chr4:143330185-143330197
15	EP300	chr4:143328796-143329505	Hela-S3	cervix:	n/a	chr4:143329212-143329221 chr4:143329213-143329222 chr4:143329415-143329429
16	CEBPB	chr4:143328577-143329755	HCT-116	colon:	n/a	n/a
17	FOSL1	chr4:143328684-143329731	HCT-116	colon:	n/a	chr4:143329213-143329221 chr4:143329213-143329222 chr4:143329214-143329221
18	SP1	chr4:143328599-143329784	HCT-116	colon:	n/a	n/a
19	MEF2A	chr4:143328906-143329557	SK-N-SH	brain:	n/a	n/a
20	CEBPB	chr4:143328825-143329652	A549	lung:	n/a	n/a
21	JUND	chr4:143328643-143329586	HCT-116	colon:	n/a	chr4:143329213-143329221 chr4:143329213-143329222 chr4:143329214-143329221
22	ATF3	chr4:143328695-143329751	HCT-116	colon:	n/a	n/a
23	JUND	chr4:143328677-143329667	HCT-116	colon:	n/a	chr4:143329213-143329221 chr4:143329213-143329222 chr4:143329214-143329221
24	GATA2	chr4:143328862-143329625	HUVEC	blood vessel:	n/a	chr4:143329140-143329149
25	GABPA	chr4:143328945-143329584	A549	lung:	n/a	n/a
26	STAT3	chr4:143328821-143329574	MCF10A-Er-Src	breast:	n/a	chr4:143329212-143329221 chr4:143329213-143329222
27	POLR2A	chr4:143328803-143329506	MCF10A-Er-Src	breast:	n/a	n/a
28	EP300	chr4:143328862-143329884	ECC-1	luminal epithelium:	n/a	chr4:143329212-143329221 chr4:143329213-143329222 chr4:143329415-143329429
29	REST	chr4:143328911-143329568	A549	lung:	n/a	n/a
30	JUND	chr4:143328794-143329690	Hela-S3	cervix:	n/a	chr4:143329213-143329221 chr4:143329213-143329222 chr4:143329214-143329221
31	FOSL2	chr4:143328934-143329588	SK-N-SH	brain:	n/a	chr4:143329213-143329221 chr4:143329213-143329222 chr4:143329214-143329221
32	GATA3	chr4:143328868-143330031	A549	lung:	n/a	chr4:143329140-143329149
33	JUN	chr4:143328923-143329507	Hela-S3	cervix:	n/a	chr4:143329213-143329221 chr4:143329213-143329222 chr4:143329214-143329221
34	EP300	chr4:143328912-143329614	SK-N-SH	brain:	n/a	chr4:143329212-143329221 chr4:143329213-143329222 chr4:143329415-143329429
35	RFX5	chr4:143328858-143329583	Hela-S3	cervix:	n/a	n/a
36	MYC	chr4:143328901-143329466	MCF10A-Er-Src	breast:	n/a	chr4:143329212-143329221 chr4:143329213-143329222
37	BCL3	chr4:143328888-143329606	A549	lung:	n/a	chr4:143329213-143329222 chr4:143329212-143329221
38	GATA3	chr4:143328932-143329599	SK-N-SH	brain:	n/a	chr4:143329140-143329149
39	SP1	chr4:143328755-143329814	A549	lung:	n/a	n/a
40	MAX	chr4:143328934-143329727	A549	lung:	n/a	chr4:143329212-143329221 chr4:143329213-143329222
41	STAT1	chr4:143328366-143329162	Hela-S3	cervix:	n/a	chr4:143328569-143328589 chr4:143328573-143328584 chr4:143328572-143328586 chr4:143328575-143328583
42	TCF12	chr4:143328898-143329876	ECC-1	luminal epithelium:	n/a	n/a
43	TCF12	chr4:143328916-143329780	SK-N-SH	brain:	n/a	n/a
44	SP1	chr4:143328610-143329817	HCT-116	colon:	n/a	n/a
45	FOSL1	chr4:143328738-143329593	HCT-116	colon:	n/a	chr4:143329213-143329221 chr4:143329213-143329222 chr4:143329214-143329221
46	TCF12	chr4:143328752-143329998	A549	lung:	n/a	n/a
47	FOS	chr4:143328085-143329757	MCF10A-Er-Src	breast:	n/a	chr4:143329213-143329221 chr4:143329213-143329222 chr4:143329214-143329221 chr4:143328294-143328303
48	CEBPB	chr4:143328882-143329527	IMR90	lung:	n/a	n/a
49	STAT3	chr4:143328583-143329574	MCF10A-Er-Src	breast:	n/a	chr4:143329212-143329221 chr4:143329213-143329222
50	MAFK	chr4:143328763-143329493	Hela-S3	cervix:	n/a	chr4:143329152-143329163

No.	Distal block	Cell Line	Cell type
1	chr4:143327592..143330271-chr4:143378912..143381553,2	MCF-7	breast:
2	chr4:143327221..143331819-chr4:143394116..143397905,6	MCF-7	breast:
3	chr4:143327412..143330052-chr4:143383937..143385936,2	MCF-7	breast:
4	chr4:143327600..143329351-chr4:143391019..143392587,2	MCF-7	breast:
5	chr4:143326852..143329330-chr4:143520781..143523143,2	MCF-7	breast:
6	chr4:143326731..143329100-chr4:143388048..143390704,2	MCF-7	breast:
7	chr4:143323626..143325827-chr4:143327783..143329444,2	MCF-7	breast:
8	chr4:143326578..143329374-chr4:143334403..143336752,2	MCF-7	breast:

Variant related genes	Relation type
INPP4B	TF binding region
ENSG00000109452	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16998554	1.00[AMR][1000 genomes]
rs17016109	1.00[AMR][1000 genomes]
rs6854312	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv968011	chr4:143325315-143333139	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143326400-143329000	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr4:143326400-143330400	Enhancers	Hela-S3	cervix
3	chr4:143326600-143329000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr4:143326600-143329000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr4:143326600-143329000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr4:143326600-143329000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr4:143327000-143329000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:143327000-143329000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:143327000-143329000	Enhancers	Fetal Intestine Small	intestine
10	chr4:143327000-143329000	Enhancers	Fetal Thymus	thymus
11	chr4:143327000-143329000	Enhancers	Thymus	Thymus
12	chr4:143327000-143330000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:143327000-143330000	Enhancers	HUVEC	blood vessel
14	chr4:143327000-143330400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:143327200-143329000	Enhancers	Primary hematopoietic stem cells	blood
16	chr4:143327200-143329000	Enhancers	Fetal Muscle Leg	muscle
17	chr4:143327200-143329000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr4:143327200-143329000	Enhancers	Small Intestine	intestine
19	chr4:143327200-143329400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:143327200-143330000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:143327200-143330200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:143327200-143330200	Enhancers	NH-A	brain
23	chr4:143327400-143329000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:143327400-143329000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr4:143327400-143329200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr4:143327400-143329600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:143327400-143330000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:143327400-143330600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:143327600-143329000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:143327600-143329000	Enhancers	HSMMtube	muscle
31	chr4:143327600-143329200	Enhancers	NHLF	lung
32	chr4:143327600-143330400	Enhancers	HSMM	muscle
33	chr4:143327600-143331200	Enhancers	NHEK	skin
34	chr4:143327600-143335600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:143327800-143329400	Enhancers	Fetal Heart	heart
36	chr4:143327800-143330000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr4:143327800-143330000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:143327800-143330200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:143327800-143330600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:143327800-143335600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:143328000-143329000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:143328000-143330000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:143328000-143330000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:143328000-143330000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:143328000-143330400	Enhancers	A549	lung
46	chr4:143328200-143329000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:143328200-143329000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr4:143328200-143329200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr4:143328200-143329200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:143328200-143329200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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