Variant report

Variant	rs386660750
Chromosome Location	chr3:46735480-46735481
allele	GC/TA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr3:46735220-46735573	K562	blood:	n/a	chr3:46735435-46735448
2	POLR2A	chr3:46734609-46735623	HUVEC	blood vessel:	n/a	n/a
3	CCNT2	chr3:46734819-46735516	K562	blood:	n/a	n/a
4	BHLHE40	chr3:46735446-46735593	K562	blood:	n/a	n/a
5	ZBTB7A	chr3:46735216-46735727	K562	blood:	n/a	n/a
6	PAX5	chr3:46735336-46735730	GM12892	blood:	n/a	n/a
7	TAF1	chr3:46734719-46735548	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr3:46733849-46735719	ECC-1	luminal epithelium:	n/a	chr3:46734870-46734879 chr3:46734535-46734545 chr3:46734616-46734625 chr3:46735563-46735572
9	UBTF	chr3:46735440-46735494	K562	blood:	n/a	n/a
10	CHD2	chr3:46735396-46735559	K562	blood:	n/a	chr3:46735520-46735530 chr3:46735402-46735412
11	POLR2A	chr3:46735468-46735705	HCT-116	colon:	n/a	n/a
12	MAZ	chr3:46734593-46735696	K562	blood:	n/a	chr3:46734870-46734879 chr3:46734616-46734625 chr3:46735563-46735572
13	ZBTB7A	chr3:46733763-46736413	ECC-1	luminal epithelium:	n/a	chr3:46736311-46736318 chr3:46734540-46734549
14	BACH1	chr3:46735430-46735744	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr3:46734027-46735492	MCF10A-Er-Src	breast:	n/a	n/a
16	EGR1	chr3:46735188-46735647	K562	blood:	n/a	chr3:46735435-46735448
17	POLR2A	chr3:46734787-46735524	HUVEC	blood vessel:	n/a	n/a
18	MYC	chr3:46735294-46735640	K562	blood:	n/a	chr3:46735563-46735572
19	POLR2A	chr3:46733827-46735509	HCT-116	colon:	n/a	n/a
20	POLR2A	chr3:46735476-46735485	MCF-7	breast:	n/a	n/a
21	MAX	chr3:46735308-46735792	K562	blood:	n/a	chr3:46735563-46735572
22	POLR2A	chr3:46733959-46735688	Hela-S3	cervix:	n/a	n/a
23	MAZ	chr3:46734040-46735721	IMR90	lung:	n/a	chr3:46734870-46734879 chr3:46734535-46734545 chr3:46734616-46734625 chr3:46735563-46735572
24	HMGN3	chr3:46734726-46735833	K562	blood:	n/a	chr3:46735585-46735594

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46735454-46735504	SK-N-SH	brain:	n/a
2	chr3:46735454-46735504	HMEC	breast:	n/a
3	chr3:46735454-46735504	NHDF-neo	bronchial:	n/a
4	chr3:46735454-46735504	MCF-7	breast:	n/a
5	chr3:46735454-46735504	T-47D	breast:	n/a
6	chr3:46735454-46735504	HEK293	kidney:	embryo
7	chr3:46735454-46735504	GM12878	blood:	n/a
8	chr3:46735454-46735504	HCF	heart:	n/a
9	chr3:46735454-46735504	AG09309	skin:	n/a
10	chr3:46735454-46735504	HCPEpiC	choroid plexus:	n/a
11	chr3:46735454-46735504	SAEC	small airway:	n/a
12	chr3:46735454-46735504	NHBE	bronchial:	n/a
13	chr3:46735454-46735504	BE2_C	brain:	n/a
14	chr3:46735454-46735504	SK-N-MC	brain:	n/a
15	chr3:46735454-46735504	LNCaP	prostate:	n/a
16	chr3:46735454-46735504	HPAEpiC	pulmonary alveolar:	n/a
17	chr3:46735454-46735504	Hela-S3	cervix:	n/a
18	chr3:46735454-46735504	AG04450	lung:	fetal
19	chr3:46735454-46735504	AoSMC	blood vessel:	n/a
20	chr3:46735454-46735504	HEEpiC	esophagus:	n/a
21	chr3:46735454-46735504	PFSK-1	brain:	n/a
22	chr3:46735454-46735504	PrEC	prostate:	n/a
23	chr3:46735454-46735504	HRPEpiC	eye:	n/a
24	chr3:46735454-46735504	SKMC	muscle:	n/a
25	chr3:46735454-46735504	K562	blood:	n/a
26	chr3:46735454-46735504	GM12891	blood:	n/a
27	chr3:46735454-46735504	GM19239	blood:	n/a
28	chr3:46735454-46735504	GM06990	blood:	n/a
29	chr3:46735454-46735504	HRCEpiC	kidney:	n/a
30	chr3:46735454-46735504	Jurkat	blood:	n/a
31	chr3:46735454-46735504	RPTEC	kidney:	n/a
32	chr3:46735454-46735504	A549	lung:	n/a
33	chr3:46735454-46735504	ProgFib	skin:	n/a
34	chr3:46735454-46735504	Hepatocyte	liver:	n/a
35	chr3:46735454-46735504	SK-N-SH_RA	brain:	n/a
36	chr3:46735454-46735504	HNPCEpiC	eye:	n/a
37	chr3:46735454-46735504	HCM	heart:	n/a
38	chr3:46735454-46735504	GM12892	blood:	n/a
39	chr3:46735454-46735504	IMR90	lung:	fetal
40	chr3:46735454-46735504	AG10803	skin:	n/a
41	chr3:46735454-46735504	HCT-116	colon:	n/a
42	chr3:46735454-46735504	HL-60	blood:	n/a
43	chr3:46735454-46735504	AG04449	skin:	fetal
44	chr3:46735454-46735504	U87	brain:	n/a
45	chr3:46735454-46735504	Caco-2	colon:	n/a
46	chr3:46735454-46735504	NB4	blood:	n/a
47	chr3:46735454-46735504	ECC-1	luminal epithelium:	n/a
48	chr3:46735454-46735504	HIPEpiC	eye:	n/a
49	chr3:46735454-46735504	AG09319	gingival:	n/a
50	chr3:46735454-46735504	NT2-D1	testis:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46734848..46735671-chr3:160283077..160283853,2	Hela-S3	cervix:
2	chr3:46734988..46739707-chr3:46741491..46746249,8	K562	blood:
3	chr3:46735288..46735975-chr3:46746178..46746698,2	K562	blood:
4	chr3:46727378..46730139-chr3:46733383..46735627,3	MCF-7	breast:
5	chr3:46735218..46737600-chr3:46738787..46741218,2	K562	blood:
6	chr3:46717709..46719534-chr3:46734745..46736639,2	MCF-7	breast:
7	chr3:46733775..46736386-chr3:46933231..46935509,2	MCF-7	breast:

No data

Variant related genes	Relation type
ALS2CL	TF binding region
ALS2CL	CpG island
ENSG00000178038	Chromatin interaction
ENSG00000181585	Chromatin interaction
ENSG00000186432	Chromatin interaction
ENSG00000229320	Chromatin interaction
ENSG00000160801	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv876739	chr3:46656980-46744966	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv876740	chr3:46656980-46748453	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv876741	chr3:46663372-46763839	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv516623	chr3:46680063-46852679	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	esv1804680	chr3:46704348-46869911	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv876742	chr3:46705369-46763839	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
11	nsv536555	chr3:46706571-46817963	Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv536556	chr3:46706571-46849443	Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv536557	chr3:46706571-46853434	Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	nsv10268	chr3:46707169-46736718	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
16	esv1797503	chr3:46708712-46760713	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
17	nsv876743	chr3:46716523-46753577	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
18	nsv876744	chr3:46716523-46763839	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
19	nsv460525	chr3:46728659-46790397	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
20	nsv590179	chr3:46728659-46790397	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
21	esv1847964	chr3:46729757-46753976	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
22	esv3438151	chr3:46734173-46736721	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46734000-46735600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:46734000-46735600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr3:46734000-46735600	Active TSS	Colon Smooth Muscle	Colon
4	chr3:46734000-46736200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr3:46734200-46735600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr3:46734200-46735600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr3:46734200-46735600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr3:46734200-46735600	Active TSS	Psoas Muscle	Psoas
9	chr3:46734200-46735800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:46734200-46735800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:46734200-46735800	Flanking Active TSS	Placenta	Placenta
12	chr3:46734200-46736000	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr3:46734400-46735600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr3:46734400-46735600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr3:46734400-46735600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
16	chr3:46734400-46735600	Active TSS	Ovary	ovary
17	chr3:46734400-46735800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr3:46734400-46735800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:46734600-46735600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr3:46734600-46735600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr3:46734600-46735600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:46734600-46735600	Active TSS	Brain Angular Gyrus	brain
23	chr3:46734600-46735800	Active TSS	A549	lung
24	chr3:46734800-46735600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr3:46734800-46735600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:46734800-46735600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:46734800-46735600	Active TSS	Primary T cells from cord blood	blood
28	chr3:46734800-46735600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:46734800-46735600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:46734800-46735600	Active TSS	Brain Anterior Caudate	brain
31	chr3:46734800-46735600	Active TSS	Brain Germinal Matrix	brain
32	chr3:46734800-46735600	Active TSS	Brain Substantia Nigra	brain
33	chr3:46734800-46735600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr3:46734800-46735600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr3:46734800-46735800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:46734800-46735800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:46734800-46735800	Active TSS	Rectal Smooth Muscle	rectum
38	chr3:46735000-46735600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr3:46735000-46735600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:46735000-46735600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:46735000-46735600	Active TSS	Brain Hippocampus Middle	brain
42	chr3:46735000-46735600	Active TSS	Fetal Brain Female	brain
43	chr3:46735000-46735600	Flanking Active TSS	Fetal Thymus	thymus
44	chr3:46735000-46735600	Active TSS	HSMM	muscle
45	chr3:46735000-46735800	Enhancers	Fetal Brain Male	brain
46	chr3:46735000-46735800	Active TSS	K562	blood
47	chr3:46735000-46735800	Active TSS	Osteobl	bone
48	chr3:46735000-46737400	Enhancers	Fetal Heart	heart
49	chr3:46735000-46739000	Enhancers	Spleen	Spleen
50	chr3:46735200-46735600	Active TSS	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links