Variant report

Variant	rs3096646
Chromosome Location	chr17:46755994-46755995
allele	C/G
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	CTCF	chr17:46755500-46756442	HCT-116	colon:	n/a	chr17:46755959-46755977
2	ZBTB7A	chr17:46755725-46756054	K562	blood:	n/a	chr17:46755910-46755919
3	ZNF384	chr17:46755889-46756113	K562	blood:	n/a	n/a
4	ZNF143	chr17:46755772-46756144	GM12878	blood:	n/a	chr17:46755937-46755947
5	ZNF143	chr17:46755823-46756120	Hela-S3	cervix:	n/a	chr17:46755937-46755947
6	CTCF	chr17:46755656-46756194	K562	blood:	n/a	chr17:46755959-46755977
7	TCF12	chr17:46755823-46756064	GM12878	blood:	n/a	n/a
8	BHLHE40	chr17:46755814-46756094	K562	blood:	n/a	chr17:46755955-46755971
9	PBX3	chr17:46755982-46756160	GM12878	blood:	n/a	chr17:46756029-46756049
10	CTCF	chr17:46755737-46756175	K562	blood:	n/a	chr17:46755959-46755977
11	TBP	chr17:46755515-46756147	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr17:46755539-46756289	H1-hESC	embryonic stem cell:	n/a	chr17:46755960-46755979 chr17:46755894-46755908 chr17:46755604-46755618 chr17:46755965-46755975
13	RAD21	chr17:46755856-46756045	GM12878	blood:	n/a	chr17:46755960-46755979 chr17:46755894-46755908 chr17:46755965-46755975
14	CTCF	chr17:46755880-46756030	K562	blood:	n/a	chr17:46755959-46755977
15	CTCF	chr17:46755900-46756050	HUVEC	blood vessel:	n/a	chr17:46755959-46755977
16	CTCF	chr17:46755880-46756030	BJ	skin:	n/a	chr17:46755959-46755977
17	CTCF	chr17:46755793-46756099	Spleen_OC	spleen:	n/a	chr17:46755959-46755977
18	CTCF	chr17:46755860-46756010	HUVEC	blood vessel:	n/a	chr17:46755959-46755977
19	CTCF	chr17:46755900-46756050	HBMEC	blood vessel:	n/a	chr17:46755959-46755977
20	CTCF	chr17:46755860-46756010	AG04450	lung:	n/a	chr17:46755959-46755977
21	CTCF	chr17:46755748-46756133	GM12892	blood:	n/a	chr17:46755959-46755977
22	CTCF	chr17:46755756-46756100	Fibrobl	skin:	n/a	chr17:46755959-46755977
23	CTCF	chr17:46755900-46756050	GM12870	blood:	n/a	chr17:46755959-46755977
24	CTCF	chr17:46755769-46756068	ECC-1	luminal epithelium:	n/a	chr17:46755959-46755977
25	RCOR1	chr17:46755823-46756019	HepG2	liver:	n/a	n/a
26	CTCF	chr17:46755571-46756315	MCF-7	breast:	n/a	chr17:46755959-46755977
27	GTF2F1	chr17:46755913-46756099	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAFK	chr17:46755897-46756034	HepG2	liver:	n/a	n/a
29	CTCF	chr17:46755860-46756010	HFF-Myc	foreskin:	n/a	chr17:46755959-46755977
30	POLR2A	chr17:46755817-46756057	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr17:46755880-46756030	AG09309	skin:	n/a	chr17:46755959-46755977
32	CTCF	chr17:46755808-46756084	SK-N-SH_RA	brain:	n/a	chr17:46755959-46755977
33	BRCA1	chr17:46755860-46756069	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr17:46755770-46756099	K562	blood:	n/a	chr17:46755960-46755979 chr17:46755894-46755908 chr17:46755965-46755975
35	CTCF	chr17:46755900-46756050	NB4	blood:	n/a	chr17:46755959-46755977
36	CTCF	chr17:46755900-46756050	GM12865	blood:	n/a	chr17:46755959-46755977
37	TBL1XR1	chr17:46755891-46756091	K562	blood:	n/a	n/a
38	CTCF	chr17:46755754-46756122	MCF-7	breast:	n/a	chr17:46755959-46755977
39	RCOR1	chr17:46755823-46756022	K562	blood:	n/a	n/a
40	CTCF	chr17:46755900-46756050	GM12867	blood:	n/a	chr17:46755959-46755977
41	RAD21	chr17:46755694-46756334	ECC-1	luminal epithelium:	n/a	chr17:46755960-46755979 chr17:46755894-46755908 chr17:46755965-46755975
42	POLR2A	chr17:46755547-46756461	PANC-1	pancreas:	n/a	n/a
43	CTCF	chr17:46755900-46756050	AG09309	skin:	n/a	chr17:46755959-46755977
44	SRF	chr17:46755786-46756126	GM12878	blood:	n/a	n/a
45	YY1	chr17:46755828-46756042	K562	blood:	n/a	chr17:46755904-46755918 chr17:46755934-46755948 chr17:46755939-46755948
46	CTCF	chr17:46755900-46756050	GM12866	blood:	n/a	chr17:46755959-46755977
47	CTCF	chr17:46755860-46756010	HCM	heart:	n/a	chr17:46755959-46755977
48	CTCF	chr17:46755900-46756050	GM12869	blood:	n/a	chr17:46755959-46755977
49	CTCF	chr17:46755900-46756050	RPTEC	kidney:	n/a	chr17:46755959-46755977
50	SRF	chr17:46755874-46756142	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46755434..46756698-chr17:46954846..46957173,15	K562	blood:
2	chr17:46755465..46756849-chr17:46867926..46869081,19	MCF-7	breast:
3	chr17:46755465..46756352-chr17:46801247..46802560,4	MCF-7	breast:
4	chr17:46755541..46756386-chr17:46881997..46882806,2	MCF-7	breast:
5	chr17:46754493..46757349-chr17:46765268..46767829,2	K562	blood:
6	chr17:46754810..46756534-chr17:46956012..46957174,7	MCF-7	breast:
7	chr17:46755482..46756508-chr17:46867920..46869021,7	K562	blood:
8	chr17:46755112..46756375-chr17:46868085..46869415,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000262745	TF binding region
ENSG00000263602	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10445381	0.81[ASN][1000 genomes]
rs16942777	0.81[CHB][hapmap]
rs16942817	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs3096645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3110608	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110611	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809776	0.92[JPT][hapmap]
rs3809777	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs61102347	0.84[ASN][1000 genomes]
rs73985889	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73985890	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8844	0.93[JPT][hapmap]
rs949671	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
2	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
3	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
4	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
5	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	356 gene(s)	inside rSNPs	diseases
6	esv13317	chr17:46732109-46783718	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1063497	chr17:46734754-46782993	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1060931	chr17:46735217-46774640	Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1060733	chr17:46735217-46775586	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1055273	chr17:46735217-46784388	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1061776	chr17:46737526-46781977	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
12	esv2757661	chr17:46738883-46763403	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
13	esv2761961	chr17:46742149-46763403	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
14	nsv575484	chr17:46749791-46780829	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46755000-46756000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr17:46755400-46756000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr17:46755400-46756000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr17:46755400-46756000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr17:46755400-46756000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr17:46755400-46756200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr17:46755400-46756200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr17:46755400-46756200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:46755400-46756200	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr17:46755600-46756000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
11	chr17:46755600-46756000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr17:46755600-46756000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr17:46755600-46756000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr17:46755600-46756000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:46755600-46756000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:46755600-46756000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:46755600-46756000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr17:46755600-46756000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
19	chr17:46755600-46756000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:46755600-46756000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
21	chr17:46755600-46756000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:46755600-46756000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr17:46755600-46756000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:46755600-46756000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:46755600-46756000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:46755600-46756000	Bivalent Enhancer	Adipose Nuclei	Adipose
27	chr17:46755600-46756000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
28	chr17:46755600-46756000	Bivalent/Poised TSS	Colonic Mucosa	Colon
29	chr17:46755600-46756000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
30	chr17:46755600-46756000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr17:46755600-46756000	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr17:46755600-46756000	Enhancers	Gastric	stomach
33	chr17:46755600-46756000	Bivalent Enhancer	Ovary	ovary
34	chr17:46755600-46756000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr17:46755600-46756000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr17:46755600-46756000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
37	chr17:46755600-46756000	Bivalent Enhancer	NHDF-Ad	bronchial
38	chr17:46755600-46756200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:46755600-46756200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr17:46755600-46756200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
41	chr17:46755600-46756200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:46755600-46756200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:46755600-46756200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr17:46755600-46756200	Bivalent Enhancer	Esophagus	oesophagus
45	chr17:46755600-46756200	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr17:46755600-46756200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr17:46755600-46756200	Enhancers	Placenta	Placenta
48	chr17:46755600-46756200	Bivalent Enhancer	Fetal Stomach	stomach
49	chr17:46755600-46756200	Enhancers	Pancreas	Pancrea
50	chr17:46755600-46756200	Enhancers	Sigmoid Colon	Sigmoid Colon

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