Variant report

Variant	rs4803485
Chromosome Location	chr19:42104121-42104122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:221)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:221 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr19:42103928-42104157	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr19:42104000-42104150	HFF	foreskin:	n/a	n/a
3	CTCF	chr19:42103955-42104265	GM10266	blood:	n/a	n/a
4	CTCF	chr19:42103941-42104180	GM12891	blood:	n/a	n/a
5	USF2	chr19:42103966-42104243	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr19:42104060-42104210	HUVEC	blood vessel:	n/a	n/a
7	USF1	chr19:42103897-42104205	A549	lung:	n/a	n/a
8	CTCF	chr19:42104060-42104210	GM12866	blood:	n/a	n/a
9	FOXA1	chr19:42103904-42104263	T-47D	breast:	n/a	n/a
10	CTCF	chr19:42104020-42104170	HMF	breast:	n/a	n/a
11	CTCF	chr19:42104040-42104190	GM12865	blood:	n/a	n/a
12	CTCF	chr19:42104040-42104190	GM12870	blood:	n/a	n/a
13	RAD21	chr19:42103883-42104299	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr19:42104060-42104210	HVMF	connective:	n/a	n/a
15	CTCF	chr19:42100786-42104468	A549	lung:	n/a	chr19:42101942-42101950 chr19:42101841-42101859
16	CTCF	chr19:42103952-42104240	A549	lung:	n/a	n/a
17	CTCF	chr19:42103988-42104310	GM10248	blood:	n/a	n/a
18	ZNF143	chr19:42103956-42104292	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr19:42103949-42104237	GM19238	blood:	n/a	n/a
20	CTCF	chr19:42104040-42104190	MCF-7	breast:	n/a	n/a
21	CTCF	chr19:42104040-42104190	HCFaa	heart:	n/a	n/a
22	CTCF	chr19:42104060-42104210	GM12878	blood:	n/a	n/a
23	CTCF	chr19:42103962-42104278	MCF-7	breast:	n/a	n/a
24	CTCF	chr19:42104100-42104250	GM12870	blood:	n/a	n/a
25	CTCF	chr19:42104040-42104190	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr19:42104020-42104170	HEEpiC	esophagus:	n/a	n/a
27	CTCF	chr19:42104020-42104170	HVMF	connective:	n/a	n/a
28	WRNIP1	chr19:42103971-42104281	GM12878	blood:	n/a	n/a
29	CTCF	chr19:42103944-42104226	GM12892	blood:	n/a	n/a
30	FOXA2	chr19:42103888-42104462	A549	lung:	n/a	n/a
31	CTCF	chr19:42104040-42104190	Caco-2	colon:	n/a	n/a
32	CTCF	chr19:42103912-42104247	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr19:42103969-42104271	ProgFib	skin:	n/a	n/a
34	MYC	chr19:42103943-42104276	MCF10A-Er-Src	breast:	n/a	n/a
35	CTCF	chr19:42104040-42104190	GM12878	blood:	n/a	n/a
36	RAD21	chr19:42103958-42104316	HepG2	liver:	n/a	n/a
37	CTCF	chr19:42104020-42104170	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr19:42104060-42104210	HCT-116	colon:	n/a	n/a
39	CTCF	chr19:42104020-42104170	GM12871	blood:	n/a	n/a
40	CTCF	chr19:42103788-42104477	SK-N-SH	brain:	n/a	n/a
41	CTCF	chr19:42104040-42104190	HMF	breast:	n/a	n/a
42	CTCF	chr19:42104040-42104190	NHEK	skin:	n/a	n/a
43	CTCF	chr19:42104000-42104150	HCT-116	colon:	n/a	n/a
44	CTCF	chr19:42103968-42104244	Fibrobl	skin:	n/a	n/a
45	RAD21	chr19:42103931-42104271	HepG2	liver:	n/a	n/a
46	SPI1	chr19:42104046-42104366	GM12891	blood:	n/a	n/a
47	CTCF	chr19:42104020-42104170	GM12869	blood:	n/a	n/a
48	CTCF	chr19:42104020-42104170	GM12875	blood:	n/a	n/a
49	CTCF	chr19:42103994-42104244	LNCaP	prostate:	n/a	n/a
50	MAX	chr19:42103904-42104152	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42103041..42104870-chr19:42110509..42112697,2	K562	blood:

No data

Variant related genes	Relation type
CEACAMP3	TF binding region
ENSG00000269266	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10404562	1.00[EUR][1000 genomes]
rs10410446	1.00[EUR][1000 genomes]
rs16975393	0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41402544	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248127	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931714	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057624	chr19:42057334-42152828	Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1058847	chr19:42057334-42172442	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1063241	chr19:42057334-42175160	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription 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	13 gene(s)	inside rSNPs	diseases
4	nsv519408	chr19:42066279-42171906	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42103000-42104200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr19:42103200-42104200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr19:42103400-42104600	Enhancers	Primary B cells from peripheral blood	blood
4	chr19:42103800-42104200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr19:42103800-42104200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:42103800-42104200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:42103800-42104200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:42103800-42104400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:42103800-42104400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr19:42103800-42104400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr19:42103800-42104600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr19:42103800-42104600	Enhancers	Primary B cells from cord blood	blood
13	chr19:42104000-42104400	Bivalent Enhancer	Brain Anterior Caudate	brain
14	chr19:42104000-42104400	Enhancers	GM12878-XiMat	blood

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