Variant report

Variant	rs1679181
Chromosome Location	chr3:138152940-138152941
allele	G/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	MAX	chr3:138152863-138154146	ECC-1	luminal epithelium:	n/a	chr3:138153304-138153319 chr3:138152991-138153001 chr3:138153306-138153315 chr3:138153166-138153173 chr3:138153306-138153315 chr3:138153305-138153315 chr3:138153307-138153314
2	E2F6	chr3:138152922-138153982	A549	lung:	n/a	chr3:138153298-138153307
3	GATA3	chr3:138152889-138153465	MCF-7	breast:	n/a	n/a
4	GATA3	chr3:138152797-138153808	MCF-7	breast:	n/a	n/a
5	ELF1	chr3:138152924-138153807	MCF-7	breast:	n/a	n/a
6	NR2F2	chr3:138152891-138153589	MCF-7	breast:	n/a	n/a
7	E2F6	chr3:138152669-138154851	H1-hESC	embryonic stem cell:	n/a	chr3:138153298-138153307 chr3:138152832-138152843
8	FOSL2	chr3:138152937-138153443	MCF-7	breast:	n/a	chr3:138153233-138153240 chr3:138153231-138153240 chr3:138153370-138153379
9	POLR2A	chr3:138152674-138153610	K562	blood:	n/a	n/a
10	MXI1	chr3:138152852-138153831	IMR90	lung:	n/a	n/a
11	HDAC2	chr3:138152640-138153959	MCF-7	breast:	n/a	chr3:138152798-138152812
12	E2F6	chr3:138152915-138154780	H1-hESC	embryonic stem cell:	n/a	chr3:138153298-138153307
13	ZNF143	chr3:138152652-138153723	H1-hESC	embryonic stem cell:	n/a	n/a
14	GATA3	chr3:138152833-138153493	MCF-7	breast:	n/a	n/a
15	ZEB1	chr3:138152928-138154183	HepG2	liver:	n/a	n/a
16	MAX	chr3:138152792-138154130	MCF-7	breast:	n/a	chr3:138153304-138153319 chr3:138152991-138153001 chr3:138153306-138153315 chr3:138153166-138153173 chr3:138153306-138153315 chr3:138153305-138153315 chr3:138153307-138153314
17	MAX	chr3:138152890-138154062	A549	lung:	n/a	chr3:138153304-138153319 chr3:138152991-138153001 chr3:138153306-138153315 chr3:138153166-138153173 chr3:138153306-138153315 chr3:138153305-138153315 chr3:138153307-138153314
18	SIN3AK20	chr3:138152789-138153800	MCF-7	breast:	n/a	n/a
19	MAX	chr3:138152810-138154186	HepG2	liver:	n/a	chr3:138153304-138153319 chr3:138152991-138153001 chr3:138153306-138153315 chr3:138153166-138153173 chr3:138153306-138153315 chr3:138153305-138153315 chr3:138153307-138153314
20	MAX	chr3:138152809-138154774	H1-hESC	embryonic stem cell:	n/a	chr3:138153304-138153319 chr3:138152991-138153001 chr3:138153306-138153315 chr3:138153166-138153173 chr3:138153306-138153315 chr3:138153305-138153315 chr3:138153307-138153314
21	JUND	chr3:138152923-138153813	MCF-7	breast:	n/a	chr3:138153233-138153240 chr3:138153231-138153240 chr3:138153230-138153241 chr3:138153370-138153379
22	TCF12	chr3:138152805-138153848	MCF-7	breast:	n/a	chr3:138153132-138153139
23	MAX	chr3:138152821-138154192	HepG2	liver:	n/a	chr3:138153304-138153319 chr3:138152991-138153001 chr3:138153306-138153315 chr3:138153166-138153173 chr3:138153306-138153315 chr3:138153305-138153315 chr3:138153307-138153314
24	MAX	chr3:138152914-138154074	ECC-1	luminal epithelium:	n/a	chr3:138153304-138153319 chr3:138152991-138153001 chr3:138153306-138153315 chr3:138153166-138153173 chr3:138153306-138153315 chr3:138153305-138153315 chr3:138153307-138153314
25	MAX	chr3:138152924-138154734	H1-hESC	embryonic stem cell:	n/a	chr3:138153304-138153319 chr3:138152991-138153001 chr3:138153306-138153315 chr3:138153166-138153173 chr3:138153306-138153315 chr3:138153305-138153315 chr3:138153307-138153314
26	MAX	chr3:138152799-138153945	MCF-7	breast:	n/a	chr3:138153304-138153319 chr3:138152991-138153001 chr3:138153306-138153315 chr3:138153166-138153173 chr3:138153306-138153315 chr3:138153305-138153315 chr3:138153307-138153314
27	MAX	chr3:138152904-138153862	A549	lung:	n/a	chr3:138153304-138153319 chr3:138152991-138153001 chr3:138153306-138153315 chr3:138153166-138153173 chr3:138153306-138153315 chr3:138153305-138153315 chr3:138153307-138153314
28	TCF12	chr3:138152932-138154088	ECC-1	luminal epithelium:	n/a	chr3:138153132-138153139

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:138152902-138152952	SAEC	small airway:	n/a
2	chr3:138152902-138152952	GM06990	blood:	n/a
3	chr3:138152902-138152952	GM12891	blood:	n/a
4	chr3:138152902-138152952	ovcar-3	ovarian:	n/a
5	chr3:138152902-138152952	ECC-1	luminal epithelium:	n/a
6	chr3:138152902-138152952	T-47D	breast:	n/a
7	chr3:138152902-138152952	AG10803	skin:	n/a
8	chr3:138152902-138152952	HCM	heart:	n/a
9	chr3:138152902-138152952	Jurkat	blood:	n/a
10	chr3:138152902-138152952	RPTEC	kidney:	n/a
11	chr3:138152902-138152952	HUVEC	blood vessel:	n/a
12	chr3:138152902-138152952	AG09309	skin:	n/a
13	chr3:138152902-138152952	HIPEpiC	eye:	n/a
14	chr3:138152902-138152952	MCF10A-Er-Src	breast:	n/a
15	chr3:138152902-138152952	LNCaP	prostate:	n/a
16	chr3:138152902-138152952	U87	brain:	n/a
17	chr3:138152902-138152952	PFSK-1	brain:	n/a
18	chr3:138152902-138152952	HRCEpiC	kidney:	n/a
19	chr3:138152902-138152952	HEEpiC	esophagus:	n/a
20	chr3:138152902-138152952	HL-60	blood:	n/a
21	chr3:138152902-138152952	NHDF-neo	bronchial:	n/a
22	chr3:138152902-138152952	ProgFib	skin:	n/a
23	chr3:138152902-138152952	HNPCEpiC	eye:	n/a
24	chr3:138152902-138152952	NB4	blood:	n/a
25	chr3:138152902-138152952	IMR90	lung:	fetal
26	chr3:138152902-138152952	Caco-2	colon:	n/a
27	chr3:138152902-138152952	NT2-D1	testis:	n/a
28	chr3:138152902-138152952	A549	lung:	n/a
29	chr3:138152902-138152952	K562	blood:	n/a
30	chr3:138152902-138152952	PANC-1	pancreas:	n/a
31	chr3:138152902-138152952	CMK	blood:	n/a
32	chr3:138152902-138152952	GM19239	blood:	n/a
33	chr3:138152902-138152952	SKMC	muscle:	n/a
34	chr3:138152902-138152952	SK-N-SH	brain:	n/a
35	chr3:138152902-138152952	Hela-S3	cervix:	n/a
36	chr3:138152902-138152952	HRPEpiC	eye:	n/a
37	chr3:138152902-138152952	SK-N-MC	brain:	n/a
38	chr3:138152902-138152952	AG04450	lung:	fetal
39	chr3:138152902-138152952	BJ	skin:	n/a
40	chr3:138152902-138152952	HCF	heart:	n/a
41	chr3:138152902-138152952	HPAEpiC	pulmonary alveolar:	n/a
42	chr3:138152902-138152952	PrEC	prostate:	n/a
43	chr3:138152902-138152952	HAEpiC	amniotic membrane:	n/a
44	chr3:138152902-138152952	AG09319	gingival:	n/a
45	chr3:138152902-138152952	NH-A	brain:	n/a
46	chr3:138152902-138152952	SK-N-SH_RA	brain:	n/a
47	chr3:138152902-138152952	HepG2	liver:	n/a
48	chr3:138152902-138152952	H1-hESC	embryonic stem cell:	embryo
49	chr3:138152902-138152952	HCPEpiC	choroid plexus:	n/a
50	chr3:138152902-138152952	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:138065940..138068792-chr3:138150528..138153476,2	K562	blood:
2	chr3:138150985..138152959-chr3:138153482..138156074,2	MCF-7	breast:
3	chr3:138143800..138147354-chr3:138150796..138153111,3	MCF-7	breast:

Variant related genes	Relation type
ESYT3	TF binding region
ESYT3	CpG island
ENSG00000158186	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1109088	0.97[ASN][1000 genomes]
rs11916525	0.81[JPT][hapmap]
rs12630060	0.81[JPT][hapmap]
rs12631438	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12632794	0.81[JPT][hapmap]
rs12633098	0.93[ASN][1000 genomes]
rs12635904	0.81[JPT][hapmap]
rs12637679	0.81[JPT][hapmap]
rs12638938	0.96[ASN][1000 genomes]
rs13059817	0.80[JPT][hapmap]
rs13062423	0.81[JPT][hapmap]
rs13084780	0.81[JPT][hapmap]
rs13098554	0.81[JPT][hapmap]
rs1546758	0.83[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1563615	0.81[JPT][hapmap]
rs1679153	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.88[MKK][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1679170	0.97[ASN][1000 genomes]
rs1679176	0.88[CHB][hapmap];0.87[ASN][1000 genomes]
rs1679177	0.94[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs1679179	1.00[ASN][1000 genomes]
rs1720826	0.87[ASN][1000 genomes]
rs1720829	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1720830	0.94[CHB][hapmap];0.97[CHD][hapmap];0.87[ASN][1000 genomes]
rs1720832	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs34963112	0.86[ASN][1000 genomes]
rs6768963	0.81[JPT][hapmap]
rs7609893	0.97[ASN][1000 genomes]
rs7611650	0.96[ASN][1000 genomes]
rs774014	0.96[ASN][1000 genomes]
rs811794	0.91[JPT][hapmap]
rs812277	0.88[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.96[ASN][1000 genomes]
rs9049	0.81[JPT][hapmap]
rs940234	1.00[ASN][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	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	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
4	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv460864	chr3:138100539-138194435	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv591853	chr3:138100539-138194435	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv999041	chr3:138148812-138347988	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138152200-138153200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
2	chr3:138152200-138153200	Bivalent Enhancer	Fetal Stomach	stomach
3	chr3:138152200-138155000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr3:138152400-138153000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
5	chr3:138152400-138154800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:138152600-138153000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr3:138152600-138153000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
8	chr3:138152600-138153000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:138152600-138153000	Active TSS	Brain Anterior Caudate	brain
10	chr3:138152600-138153000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr3:138152600-138153000	Active TSS	Ovary	ovary
12	chr3:138152600-138153000	Active TSS	Right Ventricle	heart
13	chr3:138152600-138153000	Bivalent Enhancer	Thymus	Thymus
14	chr3:138152600-138153200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
15	chr3:138152600-138153200	Enhancers	Liver	Liver
16	chr3:138152600-138153200	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr3:138152600-138153200	Bivalent Enhancer	HUVEC	blood vessel
18	chr3:138152600-138153600	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr3:138152600-138153800	Bivalent Enhancer	Fetal Thymus	thymus
20	chr3:138152600-138154000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:138152600-138154600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:138152600-138154800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
23	chr3:138152600-138154800	Active TSS	Brain Angular Gyrus	brain
24	chr3:138152800-138153000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:138152800-138153000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
26	chr3:138152800-138153000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr3:138152800-138153000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:138152800-138153000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
29	chr3:138152800-138153000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:138152800-138153000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:138152800-138153000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:138152800-138153000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:138152800-138153000	Bivalent Enhancer	Brain Germinal Matrix	brain
34	chr3:138152800-138153000	Bivalent/Poised TSS	Colonic Mucosa	Colon
35	chr3:138152800-138153000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
36	chr3:138152800-138153000	Bivalent Enhancer	Fetal Heart	heart
37	chr3:138152800-138153000	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr3:138152800-138153000	Active TSS	Left Ventricle	heart
39	chr3:138152800-138153000	Enhancers	Lung	lung
40	chr3:138152800-138153000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr3:138152800-138153000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
42	chr3:138152800-138153000	Bivalent Enhancer	NHDF-Ad	bronchial
43	chr3:138152800-138153200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:138152800-138153200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr3:138152800-138153200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
46	chr3:138152800-138153200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:138152800-138153200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
48	chr3:138152800-138153200	Bivalent Enhancer	Fetal Intestine Small	intestine
49	chr3:138152800-138153200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr3:138152800-138153200	Active TSS	Right Atrium	heart

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