Variant report

Variant	rs62280627
Chromosome Location	chr3:137801681-137801682
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	MAX	chr3:137801325-137801737	Hela-S3	cervix:	n/a	chr3:137801530-137801539
2	STAT3	chr3:137800595-137801870	MCF10A-Er-Src	breast:	n/a	chr3:137800849-137800872 chr3:137801530-137801539 chr3:137801529-137801538 chr3:137800948-137800960
3	MAX	chr3:137800562-137801763	SK-N-SH	brain:	n/a	chr3:137801530-137801539
4	BRCA1	chr3:137801277-137801693	Hela-S3	cervix:	n/a	n/a
5	JUND	chr3:137801173-137801903	HCT-116	colon:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
6	USF1	chr3:137801350-137801763	ECC-1	luminal epithelium:	n/a	chr3:137801636-137801647
7	FOSL1	chr3:137801246-137801799	HCT-116	colon:	n/a	chr3:137801528-137801540 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
8	USF1	chr3:137801429-137801819	ECC-1	luminal epithelium:	n/a	chr3:137801636-137801647
9	FOSL2	chr3:137800413-137801823	SK-N-SH	brain:	n/a	chr3:137801528-137801540 chr3:137800716-137800723 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
10	NFYB	chr3:137801468-137801871	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr3:137801560-137801710	AoAF	blood vessel:	n/a	n/a
12	GATA3	chr3:137800765-137801821	SK-N-SH	brain:	n/a	chr3:137801281-137801290 chr3:137801280-137801292 chr3:137801281-137801291 chr3:137801278-137801294 chr3:137801278-137801294 chr3:137801281-137801290
13	JUND	chr3:137801296-137801853	Hela-S3	cervix:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
14	MAX	chr3:137801265-137801856	MCF-7	breast:	n/a	chr3:137801530-137801539
15	MAX	chr3:137801247-137801813	HCT-116	colon:	n/a	chr3:137801530-137801539
16	TBP	chr3:137801344-137801708	Hela-S3	cervix:	n/a	n/a
17	JUND	chr3:137801188-137801870	MCF-7	breast:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
18	USF1	chr3:137801419-137801708	A549	lung:	n/a	chr3:137801636-137801647
19	SIN3AK20	chr3:137801142-137801867	MCF-7	breast:	n/a	n/a
20	STAT3	chr3:137800613-137801939	MCF10A-Er-Src	breast:	n/a	chr3:137800849-137800872 chr3:137801530-137801539 chr3:137801529-137801538 chr3:137800948-137800960
21	USF1	chr3:137801372-137801763	SK-N-SH_RA	brain:	n/a	chr3:137801636-137801647
22	POLR2A	chr3:137800380-137802004	IMR90	lung:	n/a	n/a
23	JUND	chr3:137800401-137801889	SK-N-SH	brain:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137800716-137800723 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
24	USF1	chr3:137801260-137801818	HCT-116	colon:	n/a	chr3:137801636-137801647
25	POLR2A	chr3:137800370-137802008	MCF10A-Er-Src	breast:	n/a	n/a
26	MAX	chr3:137801161-137801863	A549	lung:	n/a	chr3:137801530-137801539
27	MYC	chr3:137800720-137801794	MCF10A-Er-Src	breast:	n/a	chr3:137801530-137801539
28	SETDB1	chr3:137801177-137801961	U2OS	brain:	n/a	n/a
29	JUND	chr3:137800370-137801978	SK-N-SH	brain:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137800716-137800723 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
30	FOXA2	chr3:137801367-137801878	A549	lung:	n/a	n/a
31	USF1	chr3:137801365-137801804	A549	lung:	n/a	chr3:137801636-137801647
32	MAX	chr3:137801340-137801891	NB4	blood:	n/a	chr3:137801530-137801539
33	MAX	chr3:137801249-137801776	ECC-1	luminal epithelium:	n/a	chr3:137801530-137801539
34	FOS	chr3:137800554-137801876	MCF10A-Er-Src	breast:	n/a	chr3:137801528-137801540 chr3:137800716-137800723 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
35	JUND	chr3:137801172-137801810	HCT-116	colon:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
36	FOSL2	chr3:137801298-137801850	MCF-7	breast:	n/a	chr3:137801528-137801540 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
37	TCF12	chr3:137800367-137801889	SK-N-SH	brain:	n/a	chr3:137800384-137800391
38	SRF	chr3:137801463-137801926	ECC-1	luminal epithelium:	n/a	n/a
39	JUND	chr3:137801233-137801820	MCF-7	breast:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
40	FOXA1	chr3:137801441-137801798	HepG2	liver:	n/a	n/a
41	FOXA1	chr3:137801379-137801783	T-47D	breast:	n/a	n/a
42	USF1	chr3:137801492-137801787	H1-hESC	embryonic stem cell:	n/a	chr3:137801636-137801647
43	MYC	chr3:137801288-137801860	NB4	blood:	n/a	chr3:137801530-137801539
44	USF1	chr3:137801526-137801691	HepG2	liver:	n/a	chr3:137801636-137801647
45	FOSL1	chr3:137801207-137801826	HCT-116	colon:	n/a	chr3:137801528-137801540 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
46	SRF	chr3:137801274-137802078	MCF-7	breast:	n/a	n/a
47	RUNX3	chr3:137801662-137802244	GM12878	blood:	n/a	n/a
48	FOSL2	chr3:137801274-137801818	MCF-7	breast:	n/a	chr3:137801528-137801540 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
49	NFYB	chr3:137801475-137801877	GM12878	blood:	n/a	n/a
50	RCOR1	chr3:137801315-137801723	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
DZIP1L	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62280630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62280645	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2751978	chr3:137715302-137890750	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007857	chr3:137767454-137843106	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1002136	chr3:137776151-137806500	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3427124	chr3:137801279-137801829	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137780000-137813400	Weak transcription	HUVEC	blood vessel
2	chr3:137780600-137811600	Weak transcription	Psoas Muscle	Psoas
3	chr3:137781000-137833200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:137783000-137802000	Weak transcription	Fetal Brain Female	brain
5	chr3:137783200-137811600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:137783200-137821200	Weak transcription	Colonic Mucosa	Colon
7	chr3:137785400-137805600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:137786000-137802000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:137787600-137806600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:137787800-137802600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:137787800-137805200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:137789800-137803200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:137789800-137803600	Strong transcription	Fetal Lung	lung
14	chr3:137790800-137802400	Weak transcription	Fetal Intestine Large	intestine
15	chr3:137790800-137802800	Weak transcription	Brain Germinal Matrix	brain
16	chr3:137792000-137802000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:137792000-137802800	Weak transcription	Liver	Liver
18	chr3:137792000-137820600	Weak transcription	Esophagus	oesophagus
19	chr3:137792200-137805200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:137792400-137818200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:137792600-137802000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:137793800-137803600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr3:137794600-137803400	Strong transcription	Fetal Muscle Leg	muscle
24	chr3:137794600-137803400	Strong transcription	Fetal Stomach	stomach
25	chr3:137795800-137803400	Strong transcription	Aorta	Aorta
26	chr3:137796200-137801800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:137796200-137802400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:137796200-137803800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:137796200-137811400	Weak transcription	Fetal Brain Male	brain
30	chr3:137796400-137802800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:137796600-137803800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:137796800-137802200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:137796800-137802400	Genic enhancers	HSMM	muscle
34	chr3:137796800-137805200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:137797400-137802200	Weak transcription	Fetal Intestine Small	intestine
36	chr3:137797600-137802400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:137798000-137802000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:137798400-137803200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:137798600-137803400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:137798800-137803200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:137798800-137803800	Strong transcription	Right Ventricle	heart
42	chr3:137799400-137803800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:137800000-137802200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:137800000-137803400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:137800200-137802000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:137800200-137802000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:137800400-137801800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:137800400-137801800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:137800400-137801800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:137800400-137801800	Enhancers	Brain Anterior Caudate	brain

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