Variant report

Variant	rs73874497
Chromosome Location	chr3:154797386-154797387
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:154797240-154797390	AG04450	lung:	n/a	n/a
2	CTCF	chr3:154797240-154797390	HRPEpiC	eye:	n/a	n/a
3	CTCF	chr3:154797240-154797390	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr3:154797260-154797410	BJ	skin:	n/a	n/a
5	CTCF	chr3:154797240-154797390	HA-sp	spinal cord:	n/a	n/a
6	CTCF	chr3:154797260-154797410	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr3:154797260-154797410	AG09319	gingival:	n/a	n/a
8	CTCF	chr3:154797320-154797470	AG04449	skin:	n/a	n/a
9	CTCF	chr3:154797260-154797410	AoAF	blood vessel:	n/a	n/a
10	PBX3	chr3:154796810-154798333	SK-N-SH	brain:	n/a	chr3:154797735-154797744
11	CTCF	chr3:154797260-154797410	K562	blood:	n/a	n/a
12	CTCF	chr3:154797340-154797490	WERI-Rb-1	eye:	n/a	n/a
13	CTCF	chr3:154797300-154797450	AG04449	skin:	n/a	n/a
14	CTCF	chr3:154797240-154797390	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr3:154797260-154797410	HMF	breast:	n/a	n/a
16	MAX	chr3:154797352-154798231	SK-N-SH	brain:	n/a	chr3:154798073-154798081
17	POLR2A	chr3:154797287-154798230	ProgFib	skin:	n/a	n/a
18	TEAD4	chr3:154796984-154798252	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr3:154797240-154797390	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr3:154797140-154797390	WI-38	lung:	n/a	n/a
21	CTCF	chr3:154797260-154797410	HMEC	breast:	n/a	n/a
22	CTCF	chr3:154797240-154797390	HCPEpiC	choroid plexus:	n/a	n/a
23	POLR2A	chr3:154796309-154799404	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr3:154796370-154798315	Raji	blood:	n/a	n/a
25	EP300	chr3:154797065-154798444	SK-N-SH	brain:	n/a	chr3:154798003-154798019 chr3:154798232-154798246 chr3:154798229-154798243 chr3:154797392-154797408 chr3:154797900-154797916
26	POLR2A	chr3:154797364-154798145	U87	brain:	n/a	n/a
27	CTCF	chr3:154797240-154797390	AG09309	skin:	n/a	n/a
28	CTCF	chr3:154797280-154797430	HVMF	connective:	n/a	n/a
29	CTCF	chr3:154797240-154797390	AG10803	skin:	n/a	n/a
30	MAZ	chr3:154797333-154798189	K562	blood:	n/a	chr3:154798073-154798081
31	CTCF	chr3:154797260-154797410	HCFaa	heart:	n/a	n/a
32	CTCF	chr3:154797298-154797422	H1-hESC	embryonic stem cell:	n/a	n/a
33	RAD21	chr3:154796901-154798184	H1-hESC	embryonic stem cell:	n/a	chr3:154797713-154797725 chr3:154797640-154797654
34	MAX	chr3:154796686-154798269	SK-N-SH	brain:	n/a	chr3:154798073-154798081
35	CTCF	chr3:154797240-154797390	AG09319	gingival:	n/a	n/a
36	CTCF	chr3:154797240-154797390	HPF	lung:	n/a	n/a
37	TAF1	chr3:154796825-154798316	SK-N-SH	brain:	n/a	n/a
38	CTCF	chr3:154797240-154797390	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr3:154797280-154797430	HCM	heart:	n/a	n/a
40	CTCF	chr3:154797280-154797430	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr3:154797300-154797450	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr3:154797358-154798151	U87	brain:	n/a	n/a
43	POLR2A	chr3:154795817-154801378	SK-N-SH	brain:	n/a	n/a
44	RAD21	chr3:154796708-154798288	IMR90	lung:	n/a	chr3:154797713-154797725 chr3:154797640-154797654

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:154797349-154797399	HepG2	liver:	n/a
2	chr3:154797349-154797399	AG10803	skin:	n/a
3	chr3:154797349-154797399	H1-hESC	embryonic stem cell:	embryo
4	chr3:154797349-154797399	PANC-1	pancreas:	n/a
5	chr3:154797349-154797399	HNPCEpiC	eye:	n/a
6	chr3:154797349-154797399	PrEC	prostate:	n/a
7	chr3:154797349-154797399	NH-A	brain:	n/a
8	chr3:154797349-154797399	SK-N-SH_RA	brain:	n/a
9	chr3:154797349-154797399	T-47D	breast:	n/a
10	chr3:154797349-154797399	ECC-1	luminal epithelium:	n/a
11	chr3:154797349-154797399	AoSMC	blood vessel:	n/a
12	chr3:154797349-154797399	SAEC	small airway:	n/a
13	chr3:154797349-154797399	HRCEpiC	kidney:	n/a
14	chr3:154797349-154797399	SKMC	muscle:	n/a
15	chr3:154797349-154797399	NHDF-neo	bronchial:	n/a
16	chr3:154797349-154797399	AG09319	gingival:	n/a
17	chr3:154797349-154797399	SK-N-MC	brain:	n/a
18	chr3:154797349-154797399	K562	blood:	n/a
19	chr3:154797349-154797399	HCPEpiC	choroid plexus:	n/a
20	chr3:154797349-154797399	NT2-D1	testis:	n/a
21	chr3:154797349-154797399	PFSK-1	brain:	n/a
22	chr3:154797349-154797399	LNCaP	prostate:	n/a
23	chr3:154797349-154797399	AG04450	lung:	fetal
24	chr3:154797349-154797399	GM12891	blood:	n/a
25	chr3:154797349-154797399	Hepatocyte	liver:	n/a
26	chr3:154797349-154797399	NB4	blood:	n/a
27	chr3:154797349-154797399	A549	lung:	n/a
28	chr3:154797349-154797399	HIPEpiC	eye:	n/a
29	chr3:154797349-154797399	BJ	skin:	n/a
30	chr3:154797349-154797399	GM12892	blood:	n/a
31	chr3:154797349-154797399	ovcar-3	ovarian:	n/a
32	chr3:154797349-154797399	GM19239	blood:	n/a
33	chr3:154797349-154797399	HUVEC	blood vessel:	n/a
34	chr3:154797349-154797399	NHBE	bronchial:	n/a
35	chr3:154797349-154797399	AG09309	skin:	n/a
36	chr3:154797349-154797399	HMEC	breast:	n/a
37	chr3:154797349-154797399	U87	brain:	n/a
38	chr3:154797349-154797399	ProgFib	skin:	n/a
39	chr3:154797349-154797399	CMK	blood:	n/a
40	chr3:154797349-154797399	MCF10A-Er-Src	breast:	n/a
41	chr3:154797349-154797399	HCF	heart:	n/a
42	chr3:154797349-154797399	RPTEC	kidney:	n/a
43	chr3:154797349-154797399	Hela-S3	cervix:	n/a
44	chr3:154797349-154797399	Jurkat	blood:	n/a
45	chr3:154797349-154797399	HCT-116	colon:	n/a
46	chr3:154797349-154797399	MCF-7	breast:	n/a
47	chr3:154797349-154797399	GM12878	blood:	n/a
48	chr3:154797349-154797399	IMR90	lung:	fetal
49	chr3:154797349-154797399	HPAEpiC	pulmonary alveolar:	n/a
50	chr3:154797349-154797399	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
MME	TF binding region
MME	CpG island

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10513467	1.00[ASN][1000 genomes]
rs11921762	1.00[AMR][1000 genomes]
rs11923608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11925973	1.00[AMR][1000 genomes]
rs11927135	1.00[AMR][1000 genomes]
rs16824527	1.00[ASN][1000 genomes]
rs35848304	1.00[ASN][1000 genomes]
rs3773906	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4414805	1.00[ASN][1000 genomes]
rs55657903	1.00[AMR][1000 genomes]
rs55954373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56072333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57022891	1.00[ASN][1000 genomes]
rs57231033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58007166	1.00[EUR][1000 genomes]
rs58120007	1.00[ASN][1000 genomes]
rs58662380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60197267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60339637	1.00[EUR][1000 genomes]
rs60351120	1.00[ASN][1000 genomes]
rs60435073	0.89[ASN][1000 genomes]
rs60948062	1.00[ASN][1000 genomes]
rs60995161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61064256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61281054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61489236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61761163	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6770028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6793490	1.00[EUR][1000 genomes]
rs6799870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73874449	1.00[ASN][1000 genomes]
rs73874454	1.00[ASN][1000 genomes]
rs73874461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73874463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73874467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73874471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73874473	1.00[ASN][1000 genomes]
rs73874476	1.00[ASN][1000 genomes]
rs73874478	1.00[ASN][1000 genomes]
rs73874479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73874486	1.00[ASN][1000 genomes]
rs73874488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73874489	1.00[ASN][1000 genomes]
rs73874491	1.00[EUR][1000 genomes]
rs73874493	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7632185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7643334	1.00[ASN][1000 genomes]
rs7652075	1.00[AMR][1000 genomes]
rs9917790	1.00[AMR][1000 genomes]
rs9917791	1.00[ASN][1000 genomes]
rs9917802	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868930	chr3:154076125-154820242	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1000140	chr3:154336261-154905740	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534289	chr3:154535584-154987166	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv532663	chr3:154561578-154960353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv999994	chr3:154579254-155175303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv532664	chr3:154588346-155162615	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv963491	chr3:154795648-154803797	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3325286	chr3:154796483-154799031	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:154789200-154797400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:154796000-154802200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:154796200-154799600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr3:154796200-154799600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:154796400-154799000	Active TSS	Placenta Amnion	Placenta Amnion
6	chr3:154796400-154799200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr3:154796400-154800000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:154796400-154800000	Active TSS	NHLF	lung
9	chr3:154796600-154797400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:154796600-154797400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr3:154796600-154797400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
12	chr3:154796600-154797600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:154796600-154797600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
14	chr3:154796600-154797600	Active TSS	Right Ventricle	heart
15	chr3:154796600-154797800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr3:154796600-154797800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
17	chr3:154796600-154798000	Active TSS	Rectal Smooth Muscle	rectum
18	chr3:154796600-154798200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:154796600-154798400	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr3:154796600-154798400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:154796600-154798400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
22	chr3:154796600-154798600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr3:154796600-154798600	Active TSS	Thymus	Thymus
24	chr3:154796600-154798600	Active TSS	HSMM	muscle
25	chr3:154796600-154798800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr3:154796600-154798800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:154796600-154798800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:154796600-154798800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:154796600-154798800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:154796600-154799000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:154796600-154799000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr3:154796600-154799000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:154796600-154799000	Active TSS	Placenta	Placenta
34	chr3:154796600-154799200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:154796600-154800000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:154796600-154800200	Active TSS	Psoas Muscle	Psoas
37	chr3:154796600-154800600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr3:154796600-154802000	Active TSS	Duodenum Mucosa	Duodenum
39	chr3:154796800-154797400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr3:154796800-154797400	Enhancers	Pancreas	Pancrea
41	chr3:154796800-154797400	Active TSS	Right Atrium	heart
42	chr3:154796800-154797600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
43	chr3:154796800-154797800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:154796800-154798400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
45	chr3:154796800-154798600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:154796800-154798600	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr3:154796800-154798600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
48	chr3:154796800-154798800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
49	chr3:154796800-154798800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
50	chr3:154796800-154798800	Bivalent/Poised TSS	NH-A	brain

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