Variant report

Variant	rs34173962
Chromosome Location	chr3:138542633-138542634
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	MAFF	chr3:138542566-138542943	K562	blood:	n/a	chr3:138542745-138542763
2	JUND	chr3:138542534-138543069	T-47D	breast:	n/a	chr3:138542747-138542755 chr3:138542747-138542754 chr3:138542745-138542756 chr3:138542747-138542755 chr3:138542745-138542757 chr3:138542746-138542756
3	JUN	chr3:138542574-138542928	K562	blood:	n/a	chr3:138542747-138542755 chr3:138542747-138542754 chr3:138542747-138542755 chr3:138542745-138542757 chr3:138542746-138542756
4	SP1	chr3:138542467-138542991	A549	lung:	n/a	n/a
5	SP1	chr3:138542572-138542910	HepG2	liver:	n/a	n/a
6	FOXA1	chr3:138542504-138542902	HepG2	liver:	n/a	n/a
7	FOXA1	chr3:138542581-138542906	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr3:138542545-138543030	A549	lung:	n/a	chr3:138542747-138542756
9	NFE2	chr3:138542597-138542921	K562	blood:	n/a	chr3:138542747-138542757 chr3:138542746-138542761 chr3:138542747-138542756 chr3:138542748-138542758
10	RFX5	chr3:138542601-138543004	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr3:138542619-138545078	K562	blood:	n/a	n/a
12	MAFK	chr3:138542571-138543199	H1-hESC	embryonic stem cell:	n/a	chr3:138543095-138543106 chr3:138542747-138542757 chr3:138542748-138542757 chr3:138542746-138542761
13	CEBPB	chr3:138542524-138543006	A549	lung:	n/a	n/a
14	YY1	chr3:138542558-138542895	H1-hESC	embryonic stem cell:	n/a	chr3:138542708-138542724 chr3:138542711-138542723
15	JUND	chr3:138542524-138543091	SK-N-SH	brain:	n/a	chr3:138542747-138542755 chr3:138542747-138542754 chr3:138542745-138542756 chr3:138542747-138542755 chr3:138542745-138542757 chr3:138542746-138542756
16	SP1	chr3:138542570-138543041	H1-hESC	embryonic stem cell:	n/a	n/a
17	FOSL1	chr3:138542447-138543106	HCT-116	colon:	n/a	chr3:138542747-138542755 chr3:138542745-138542756 chr3:138542747-138542754 chr3:138542747-138542755 chr3:138542745-138542757 chr3:138542746-138542756
18	RCOR1	chr3:138542600-138543184	K562	blood:	n/a	n/a
19	EP300	chr3:138542425-138543205	ECC-1	luminal epithelium:	n/a	chr3:138542747-138542756
20	FOXA2	chr3:138542377-138543318	HepG2	liver:	n/a	n/a
21	TEAD4	chr3:138542501-138542927	A549	lung:	n/a	n/a
22	STAT5A	chr3:138542558-138542924	K562	blood:	n/a	chr3:138542763-138542778
23	ESR1	chr3:138542584-138543155	ECC-1	luminal epithelium:	n/a	n/a
24	TEAD4	chr3:138542574-138543051	MCF-7	breast:	n/a	chr3:138542973-138542982
25	USF1	chr3:138542558-138542885	A549	lung:	n/a	n/a
26	JUND	chr3:138542464-138543362	SK-N-SH	brain:	n/a	chr3:138542747-138542755 chr3:138542747-138542754 chr3:138542745-138542756 chr3:138542747-138542755 chr3:138542745-138542757 chr3:138542746-138542756
27	JUN	chr3:138542563-138542968	HUVEC	blood vessel:	n/a	chr3:138542747-138542755 chr3:138542747-138542754 chr3:138542747-138542755 chr3:138542745-138542757 chr3:138542746-138542756
28	HNF4A	chr3:138542574-138542853	HepG2	liver:	n/a	n/a
29	ATF3	chr3:138542582-138542931	K562	blood:	n/a	n/a
30	HDAC2	chr3:138542535-138542888	HepG2	liver:	n/a	n/a
31	JUN	chr3:138542607-138542968	Hela-S3	cervix:	n/a	chr3:138542747-138542755 chr3:138542747-138542754 chr3:138542747-138542755 chr3:138542745-138542757 chr3:138542746-138542756
32	FOXA2	chr3:138542577-138542991	A549	lung:	n/a	n/a
33	FOSL2	chr3:138542501-138543051	SK-N-SH	brain:	n/a	chr3:138542747-138542755 chr3:138542747-138542754 chr3:138542747-138542755 chr3:138542745-138542757 chr3:138542744-138542755 chr3:138542746-138542756
34	EP300	chr3:138542604-138543220	K562	blood:	n/a	chr3:138542747-138542756
35	JUN	chr3:138542571-138542968	K562	blood:	n/a	chr3:138542747-138542755 chr3:138542747-138542754 chr3:138542747-138542755 chr3:138542745-138542757 chr3:138542746-138542756
36	FOS	chr3:138542575-138542930	MCF10A-Er-Src	breast:	n/a	chr3:138542745-138542756 chr3:138542747-138542755 chr3:138542747-138542754 chr3:138542747-138542755 chr3:138542745-138542757 chr3:138542746-138542756
37	NFIC	chr3:138542585-138542937	ECC-1	luminal epithelium:	n/a	n/a
38	FOXM1	chr3:138542423-138543167	ECC-1	luminal epithelium:	n/a	n/a
39	PBX3	chr3:138542585-138543077	SK-N-SH	brain:	n/a	n/a
40	JUND	chr3:138542569-138543175	T-47D	breast:	n/a	chr3:138542747-138542755 chr3:138542747-138542754 chr3:138542745-138542756 chr3:138542747-138542755 chr3:138542745-138542757 chr3:138542746-138542756
41	YY1	chr3:138542617-138542964	HepG2	liver:	n/a	chr3:138542708-138542724 chr3:138542711-138542723
42	HNF4G	chr3:138542570-138542903	HepG2	liver:	n/a	n/a
43	ESR1	chr3:138542586-138542911	ECC-1	luminal epithelium:	n/a	n/a
44	JUND	chr3:138542444-138542929	HCT-116	colon:	n/a	chr3:138542747-138542755 chr3:138542747-138542754 chr3:138542745-138542756 chr3:138542747-138542755 chr3:138542745-138542757 chr3:138542746-138542756
45	SIN3A	chr3:138542626-138542995	H1-hESC	embryonic stem cell:	n/a	n/a
46	FOSL2	chr3:138542597-138543039	MCF-7	breast:	n/a	chr3:138542747-138542755 chr3:138542747-138542754 chr3:138542747-138542755 chr3:138542745-138542757 chr3:138542744-138542755 chr3:138542746-138542756
47	JUND	chr3:138542550-138543273	H1-hESC	embryonic stem cell:	n/a	chr3:138542747-138542755 chr3:138542747-138542754 chr3:138542745-138542756 chr3:138542747-138542755 chr3:138542745-138542757 chr3:138542746-138542756
48	TEAD4	chr3:138542578-138543075	HCT-116	colon:	n/a	chr3:138542973-138542982
49	GATA1	chr3:138542600-138543169	PBDE	blood:	n/a	n/a
50	JUND	chr3:138542566-138543027	Hela-S3	cervix:	n/a	chr3:138542747-138542755 chr3:138542747-138542754 chr3:138542745-138542756 chr3:138542747-138542755 chr3:138542745-138542757 chr3:138542746-138542756

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138525639..138527361-chr3:138540690..138543312,2	K562	blood:
2	chr3:138541276..138545209-chr3:138550830..138554565,5	MCF-7	breast:

Variant related genes	Relation type
EEF1A1P25	TF binding region
ENSG00000051382	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13087696	1.00[AFR][1000 genomes]
rs34096688	1.00[AFR][1000 genomes]
rs66470363	1.00[AFR][1000 genomes]
rs66717475	1.00[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	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv1000927	chr3:138423543-138632596	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138504000-138552000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:138506000-138551800	Weak transcription	Primary B cells from cord blood	blood
3	chr3:138512000-138542800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:138513400-138544400	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:138513800-138543000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:138513800-138543000	Weak transcription	Placenta	Placenta
7	chr3:138523000-138543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:138528800-138552600	Weak transcription	Colonic Mucosa	Colon
9	chr3:138529400-138544400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:138531800-138542800	Weak transcription	Osteobl	bone
11	chr3:138535000-138543200	Weak transcription	Thymus	Thymus
12	chr3:138535000-138544000	Weak transcription	Fetal Thymus	thymus
13	chr3:138535000-138544200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:138535200-138543600	Weak transcription	Dnd41	blood
15	chr3:138535200-138543800	Weak transcription	Primary T cells from cord blood	blood
16	chr3:138535200-138551600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:138537000-138552200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:138537200-138543000	Weak transcription	Right Ventricle	heart
19	chr3:138537200-138544200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:138537200-138544200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:138537200-138548400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:138537200-138552000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:138537200-138552200	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:138537400-138543000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:138537400-138544000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:138537400-138544400	Weak transcription	Spleen	Spleen
27	chr3:138537400-138551400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr3:138537400-138552200	Weak transcription	Brain Anterior Caudate	brain
29	chr3:138537600-138542800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:138537600-138542800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:138537600-138543000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:138537600-138543000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:138537600-138543000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:138537600-138543000	Weak transcription	Left Ventricle	heart
35	chr3:138537600-138543800	Weak transcription	Gastric	stomach
36	chr3:138537600-138543800	Weak transcription	GM12878-XiMat	blood
37	chr3:138537600-138544000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:138537600-138544000	Weak transcription	Liver	Liver
39	chr3:138537600-138544200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr3:138537600-138544200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr3:138537600-138544200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr3:138537600-138544400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr3:138537600-138544400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:138537600-138549000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:138537600-138551200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr3:138537600-138551400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr3:138537600-138551400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:138537600-138552000	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:138537600-138552200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:138537600-138552200	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links