Variant report

Variant	rs7432986
Chromosome Location	chr3:52032149-52032150
allele	A/G
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	chr3:52031964-52032261	H1-hESC	embryonic stem cell:	n/a	n/a
2	GTF2F1	chr3:52032011-52032283	Hela-S3	cervix:	n/a	n/a
3	RCOR1	chr3:52031983-52032410	Hela-S3	cervix:	n/a	n/a
4	JUN	chr3:52031965-52032265	K562	blood:	n/a	n/a
5	JUND	chr3:52031971-52032357	H1-hESC	embryonic stem cell:	n/a	chr3:52032134-52032145
6	STAT3	chr3:52031909-52032212	MCF10A-Er-Src	breast:	n/a	n/a
7	MAZ	chr3:52031997-52032197	Hela-S3	cervix:	n/a	n/a
8	JUND	chr3:52031768-52032428	HCT-116	colon:	n/a	chr3:52032134-52032145
9	ATF2	chr3:52031971-52032275	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr3:52032024-52032297	MCF10A-Er-Src	breast:	n/a	n/a
11	MAX	chr3:52031932-52032281	Hela-S3	cervix:	n/a	n/a
12	JUND	chr3:52031981-52032240	HepG2	liver:	n/a	chr3:52032134-52032145
13	CTBP2	chr3:52031966-52032431	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr3:52031935-52032192	MCF10A-Er-Src	breast:	n/a	n/a
15	JUND	chr3:52031833-52032395	HCT-116	colon:	n/a	chr3:52032134-52032145
16	FOXA2	chr3:52031620-52032177	A549	lung:	n/a	n/a
17	FOSL1	chr3:52031979-52032178	K562	blood:	n/a	n/a
18	RCOR1	chr3:52032080-52032160	HepG2	liver:	n/a	n/a
19	TEAD4	chr3:52031967-52032419	ECC-1	luminal epithelium:	n/a	n/a
20	FOS	chr3:52031944-52032330	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr3:52031944-52032316	MCF10A-Er-Src	breast:	n/a	n/a
22	RAD21	chr3:52032003-52032324	Hela-S3	cervix:	n/a	n/a
23	JUND	chr3:52031979-52032252	HepG2	liver:	n/a	chr3:52032134-52032145
24	JUND	chr3:52031950-52032328	HepG2	liver:	n/a	chr3:52032134-52032145
25	MXI1	chr3:52031966-52032240	Hela-S3	cervix:	n/a	n/a
26	FOSL2	chr3:52031945-52032336	HepG2	liver:	n/a	chr3:52032133-52032144
27	FOSL1	chr3:52031898-52032343	K562	blood:	n/a	n/a
28	POLR2A	chr3:52031951-52032181	Hela-S3	cervix:	n/a	n/a
29	SIN3AK20	chr3:52031943-52032266	H1-hESC	embryonic stem cell:	n/a	n/a
30	FOS	chr3:52031949-52032330	MCF10A-Er-Src	breast:	n/a	n/a
31	FOSL1	chr3:52031800-52032526	HCT-116	colon:	n/a	n/a
32	TEAD4	chr3:52032022-52032304	H1-hESC	embryonic stem cell:	n/a	n/a
33	FOSL2	chr3:52031951-52032383	MCF-7	breast:	n/a	chr3:52032133-52032144
34	SIN3A	chr3:52031909-52032397	H1-hESC	embryonic stem cell:	n/a	n/a
35	JUN	chr3:52031775-52032399	K562	blood:	n/a	n/a
36	JUN	chr3:52031954-52032332	Hela-S3	cervix:	n/a	n/a
37	FOXA1	chr3:52031795-52032156	T-47D	breast:	n/a	n/a
38	FOSL2	chr3:52031877-52032359	HepG2	liver:	n/a	chr3:52032133-52032144
39	JUN	chr3:52031955-52032293	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr3:52031947-52032399	H1-hESC	embryonic stem cell:	n/a	chr3:52032134-52032145
41	JUN	chr3:52031951-52032309	HepG2	liver:	n/a	n/a
42	JUND	chr3:52031946-52032360	Hela-S3	cervix:	n/a	chr3:52032134-52032145
43	MAX	chr3:52031905-52032294	MCF-7	breast:	n/a	n/a
44	TEAD4	chr3:52031817-52032466	ECC-1	luminal epithelium:	n/a	n/a
45	RFX5	chr3:52031995-52032313	Hela-S3	cervix:	n/a	n/a
46	SMC3	chr3:52032006-52032296	Hela-S3	cervix:	n/a	n/a
47	FOSL1	chr3:52031837-52032435	HCT-116	colon:	n/a	n/a
48	SIN3AK20	chr3:52031992-52032295	H1-hESC	embryonic stem cell:	n/a	n/a
49	ZNF143	chr3:52032033-52032294	H1-hESC	embryonic stem cell:	n/a	n/a
50	TEAD4	chr3:52031835-52032380	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:52001556..52005448-chr3:52028528..52032420,5	MCF-7	breast:
2	chr3:52031484..52033513-chr3:52037731..52040707,2	K562	blood:
3	chr3:52031889..52035644-chr3:52185003..52188385,3	K562	blood:

Variant related genes	Relation type
RPL29	TF binding region
ENSG00000248487	Chromatin interaction
ENSG00000090097	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2015691	0.92[ASW][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes]
rs323858	0.92[ASW][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs323859	0.92[AFR][1000 genomes]
rs323861	0.81[AFR][1000 genomes]
rs323862	0.81[AFR][1000 genomes]
rs323863	0.83[ASW][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[YRI][hapmap]
rs323868	1.00[MEX][hapmap]
rs323873	1.00[MEX][hapmap]
rs323874	1.00[MEX][hapmap]
rs323879	1.00[MEX][hapmap]
rs323887	1.00[MEX][hapmap]
rs323892	0.92[ASW][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs323893	0.80[YRI][hapmap]
rs323895	0.80[YRI][hapmap]
rs323897	0.92[ASW][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes]
rs323898	1.00[MEX][hapmap]
rs379462	0.85[ASW][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes]
rs380788	0.95[YRI][hapmap];0.89[AMR][1000 genomes]
rs404527	0.95[YRI][hapmap];0.89[AMR][1000 genomes]
rs411209	0.95[YRI][hapmap]
rs451154	0.86[AFR][1000 genomes]
rs72964028	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs82854	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
3	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
11	nsv236961	chr3:52030637-52035392	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52030000-52032200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:52030000-52034200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:52030000-52034400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:52030000-52035600	Weak transcription	Esophagus	oesophagus
5	chr3:52030200-52035400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:52030200-52035400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:52030200-52038600	Weak transcription	Fetal Kidney	kidney
8	chr3:52030400-52033200	Enhancers	HepG2	liver
9	chr3:52030400-52034200	Weak transcription	Placenta	Placenta
10	chr3:52030400-52035400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr3:52030400-52035400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:52030400-52035400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:52030400-52035400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:52030400-52035400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:52030400-52035400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr3:52030400-52035400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:52030400-52035400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:52030400-52035400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:52030400-52035400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:52030400-52035400	Weak transcription	Fetal Thymus	thymus
21	chr3:52030400-52035400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr3:52030400-52035600	Weak transcription	Primary B cells from cord blood	blood
23	chr3:52030400-52035600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:52030400-52035600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr3:52030400-52035600	Weak transcription	Fetal Intestine Small	intestine
26	chr3:52030400-52038200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:52030400-52039600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:52031200-52032400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:52031600-52036000	Enhancers	K562	blood
30	chr3:52031800-52032200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:52031800-52032200	Flanking Active TSS	Hela-S3	cervix
32	chr3:52031800-52032400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr3:52031800-52032400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:52031800-52032400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr3:52031800-52032400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr3:52031800-52032400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:52031800-52033000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr3:52031800-52033000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:52031800-52033000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:52031800-52033000	Enhancers	HMEC	breast
41	chr3:52031800-52033000	Enhancers	NHEK	skin
42	chr3:52032000-52032200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr3:52032000-52032200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:52032000-52032200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:52032000-52032200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr3:52032000-52032200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:52032000-52032200	Enhancers	Fetal Muscle Leg	muscle
48	chr3:52032000-52032400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr3:52032000-52032400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr3:52032000-52032400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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