Variant report

Variant	rs6440021
Chromosome Location	chr3:98376436-98376437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:148)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:148 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr3:98376296-98376589	GM12892	blood:	n/a	n/a
2	CTCF	chr3:98376400-98376550	GM12865	blood:	n/a	n/a
3	YY1	chr3:98376281-98376639	GM12878	blood:	n/a	chr3:98376498-98376512 chr3:98376421-98376435
4	RAD21	chr3:98376346-98376560	A549	lung:	n/a	chr3:98376476-98376489
5	RAD21	chr3:98376171-98376759	H1-hESC	embryonic stem cell:	n/a	chr3:98376476-98376489
6	CTCF	chr3:98376386-98376601	GM13977	blood:	n/a	n/a
7	CTCF	chr3:98376360-98376510	HMEC	breast:	n/a	n/a
8	MAX	chr3:98376377-98376577	GM12878	blood:	n/a	n/a
9	CTCF	chr3:98376360-98376510	GM12868	blood:	n/a	n/a
10	CTCF	chr3:98376360-98376510	AG09309	skin:	n/a	n/a
11	CTCF	chr3:98376420-98376570	GM12878	blood:	n/a	n/a
12	CTCF	chr3:98376400-98376550	GM12874	blood:	n/a	n/a
13	CTCF	chr3:98376420-98376570	A549	lung:	n/a	n/a
14	ZEB1	chr3:98376266-98376612	GM12878	blood:	n/a	chr3:98376431-98376440
15	CTCF	chr3:98376420-98376570	GM12871	blood:	n/a	n/a
16	ZNF143	chr3:98376345-98376638	GM12878	blood:	n/a	n/a
17	CTCF	chr3:98376298-98376608	A549	lung:	n/a	n/a
18	CTCF	chr3:98376380-98376530	HUVEC	blood vessel:	n/a	n/a
19	EBF1	chr3:98376328-98376559	GM12878	blood:	n/a	n/a
20	CTCF	chr3:98376420-98376570	HepG2	liver:	n/a	n/a
21	MAX	chr3:98376233-98376742	H1-hESC	embryonic stem cell:	n/a	n/a
22	USF2	chr3:98376297-98376474	H1-hESC	embryonic stem cell:	n/a	chr3:98376427-98376443
23	CTCF	chr3:98376400-98376590	GM10248	blood:	n/a	n/a
24	CTCF	chr3:98376380-98376530	Caco-2	colon:	n/a	n/a
25	CTCF	chr3:98376420-98376570	GM12865	blood:	n/a	n/a
26	RCOR1	chr3:98376384-98376571	K562	blood:	n/a	n/a
27	CTCF	chr3:98376383-98376587	Medullo	brain:	n/a	n/a
28	BCLAF1	chr3:98376201-98376680	GM12878	blood:	n/a	chr3:98376421-98376434 chr3:98376499-98376512 chr3:98376513-98376526 chr3:98376506-98376519 chr3:98376426-98376435
29	TCF12	chr3:98376298-98376589	GM12878	blood:	n/a	chr3:98376432-98376439
30	TBP	chr3:98376355-98376660	H1-hESC	embryonic stem cell:	n/a	n/a
31	NFIC	chr3:98376344-98376800	GM12878	blood:	n/a	n/a
32	MXI1	chr3:98376394-98376564	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr3:98376415-98376585	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr3:98376420-98376570	GM12872	blood:	n/a	n/a
35	CTCF	chr3:98376420-98376570	GM12875	blood:	n/a	n/a
36	CTCF	chr3:98376400-98376550	WERI-Rb-1	eye:	n/a	n/a
37	CHD2	chr3:98376413-98376532	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr3:98376420-98376570	NB4	blood:	n/a	n/a
39	CTCF	chr3:98376360-98376510	BE2_C	brain:	n/a	n/a
40	YY1	chr3:98376331-98376582	GM12878	blood:	n/a	chr3:98376498-98376512 chr3:98376421-98376435
41	CTCF	chr3:98376380-98376530	HAc	cerebellar:	n/a	n/a
42	RAD21	chr3:98376298-98376711	H1-hESC	embryonic stem cell:	n/a	chr3:98376476-98376489
43	MAX	chr3:98376199-98376752	HCT-116	colon:	n/a	n/a
44	YY1	chr3:98376287-98376633	GM12891	blood:	n/a	chr3:98376498-98376512 chr3:98376421-98376435
45	TCF3	chr3:98376330-98376576	GM12878	blood:	n/a	n/a
46	JUND	chr3:98376355-98376650	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr3:98376312-98376639	GM12891	blood:	n/a	n/a
48	CTCF	chr3:98376306-98376611	HepG2	liver:	n/a	n/a
49	RAD21	chr3:98376263-98376725	H1-hESC	embryonic stem cell:	n/a	chr3:98376476-98376489
50	CTCF	chr3:98376373-98376624	GM10266	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:98376427-98376477	IMR90	lung:	fetal
2	chr3:98376390-98376440	HRPEpiC	eye:	n/a
3	chr3:98376390-98376440	GM12891	blood:	n/a
4	chr3:98376427-98376477	BE2_C	brain:	n/a
5	chr3:98376427-98376477	NHBE	bronchial:	n/a
6	chr3:98376427-98376477	HCM	heart:	n/a
7	chr3:98376390-98376440	GM06990	blood:	n/a
8	chr3:98376427-98376477	SK-N-MC	brain:	n/a
9	chr3:98376427-98376477	PrEC	prostate:	n/a
10	chr3:98376427-98376477	AoSMC	blood vessel:	n/a
11	chr3:98376427-98376477	GM12878	blood:	n/a
12	chr3:98376427-98376477	HRCEpiC	kidney:	n/a
13	chr3:98376427-98376477	H1-hESC	embryonic stem cell:	embryo
14	chr3:98376390-98376440	NH-A	brain:	n/a
15	chr3:98376427-98376477	PANC-1	pancreas:	n/a
16	chr3:98376390-98376440	RPTEC	kidney:	n/a
17	chr3:98376427-98376477	HMEC	breast:	n/a
18	chr3:98376427-98376477	NHDF-neo	bronchial:	n/a
19	chr3:98376390-98376440	AoSMC	blood vessel:	n/a
20	chr3:98376427-98376477	Hepatocyte	liver:	n/a
21	chr3:98376390-98376440	NHBE	bronchial:	n/a
22	chr3:98376390-98376440	HUVEC	blood vessel:	n/a
23	chr3:98376390-98376440	Hepatocyte	liver:	n/a
24	chr3:98376427-98376477	HRE	kidney:	n/a
25	chr3:98376427-98376477	AG04449	skin:	fetal
26	chr3:98376390-98376440	HCT-116	colon:	n/a
27	chr3:98376427-98376477	HCPEpiC	choroid plexus:	n/a
28	chr3:98376390-98376440	GM12878	blood:	n/a
29	chr3:98376390-98376440	HEEpiC	esophagus:	n/a
30	chr3:98376390-98376440	T-47D	breast:	n/a
31	chr3:98376390-98376440	HCPEpiC	choroid plexus:	n/a
32	chr3:98376427-98376477	HCT-116	colon:	n/a
33	chr3:98376427-98376477	NT2-D1	testis:	n/a
34	chr3:98376427-98376477	MCF-7	breast:	n/a
35	chr3:98376390-98376440	NHDF-neo	bronchial:	n/a
36	chr3:98376390-98376440	H1-hESC	embryonic stem cell:	embryo
37	chr3:98376390-98376440	ECC-1	luminal epithelium:	n/a
38	chr3:98376390-98376440	PFSK-1	brain:	n/a
39	chr3:98376427-98376477	HEK293	kidney:	embryo
40	chr3:98376390-98376440	Caco-2	colon:	n/a
41	chr3:98376427-98376477	GM12892	blood:	n/a
42	chr3:98376427-98376477	AG10803	skin:	n/a
43	chr3:98376427-98376477	SK-N-SH_RA	brain:	n/a
44	chr3:98376390-98376440	GM19239	blood:	n/a
45	chr3:98376390-98376440	HCM	heart:	n/a
46	chr3:98376427-98376477	ProgFib	skin:	n/a
47	chr3:98376427-98376477	BJ	skin:	n/a
48	chr3:98376390-98376440	PrEC	prostate:	n/a
49	chr3:98376427-98376477	GM19239	blood:	n/a
50	chr3:98376427-98376477	AG09309	skin:	n/a

No data

Variant related genes	Relation type
WWP1P1	TF binding region
WWP1P1	CpG island

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1000003	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs10428232	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1531377	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3796137	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs3796138	1.00[CEU][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3796139	0.83[CEU][hapmap]
rs4401313	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56693294	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58658285	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6440000	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs6440011	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6440012	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6440014	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6440016	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs6440017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6440022	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6784453	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6785928	0.82[EUR][1000 genomes]
rs6786182	0.81[EUR][1000 genomes]
rs6790842	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6803092	1.00[CEU][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808728	0.85[AMR][1000 genomes]
rs72924788	0.82[EUR][1000 genomes]
rs7611858	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs7614764	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7618028	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7621637	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7623192	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7632042	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7641726	0.84[CEU][hapmap]
rs7647570	0.95[EUR][1000 genomes]
rs7650163	0.83[EUR][1000 genomes]
rs7653204	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs9867008	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9872119	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1000357	chr3:98284283-98381473	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv524042	chr3:98317836-98436188	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1810552	chr3:98337517-98379709	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98375600-98377400	Enhancers	Fetal Thymus	thymus
2	chr3:98376000-98376600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr3:98376000-98376600	Enhancers	Duodenum Mucosa	Duodenum
4	chr3:98376000-98377000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr3:98376200-98376600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr3:98376200-98376600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
7	chr3:98376200-98376600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:98376200-98376600	Active TSS	Primary T cells from cord blood	blood
9	chr3:98376200-98376600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr3:98376200-98376600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:98376200-98376600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:98376200-98376600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:98376200-98376600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:98376200-98376600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:98376200-98376600	Bivalent Enhancer	Adipose Nuclei	Adipose
16	chr3:98376200-98376600	Flanking Active TSS	Left Ventricle	heart
17	chr3:98376200-98376600	Enhancers	Pancreas	Pancrea
18	chr3:98376200-98376600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr3:98376200-98376600	Active TSS	Psoas Muscle	Psoas
20	chr3:98376200-98376600	Active TSS	Right Atrium	heart
21	chr3:98376200-98376600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr3:98376200-98376800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr3:98376200-98376800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr3:98376200-98376800	Enhancers	Primary hematopoietic stem cells	blood
25	chr3:98376200-98376800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:98376200-98376800	Enhancers	HMEC	breast
27	chr3:98376400-98376600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:98376400-98376600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr3:98376400-98376600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:98376400-98376600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:98376400-98376600	Enhancers	Brain Cingulate Gyrus	brain
32	chr3:98376400-98376600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:98376400-98376600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr3:98376400-98376600	Flanking Active TSS	Right Ventricle	heart
35	chr3:98376400-98376600	Active TSS	Thymus	Thymus
36	chr3:98376400-98376600	Bivalent/Poised TSS	A549	lung
37	chr3:98376400-98376600	Enhancers	GM12878-XiMat	blood
38	chr3:98376400-98376600	Bivalent/Poised TSS	HUVEC	blood vessel
39	chr3:98376400-98376600	Bivalent Enhancer	NHEK	skin
40	chr3:98376400-98376800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr3:98376400-98376800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:98376400-98376800	Enhancers	Brain Hippocampus Middle	brain
43	chr3:98376400-98376800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain

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