Variant report

Variant	rs28365133
Chromosome Location	chr19:35761519-35761520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:35760164-35762284	A549	lung:	n/a	chr19:35760326-35760339
2	POLR2A	chr19:35761519-35761584	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr19:35760109-35761524	SK-N-SH	brain:	n/a	chr19:35760326-35760339
4	POLR2A	chr19:35761366-35761808	K562	blood:	n/a	n/a
5	POLR2A	chr19:35761384-35761523	GM12878	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35644831..35647736-chr19:35757479..35762010,7	K562	blood:
2	chr19:35758518..35761825-chr19:35766786..35769886,4	K562	blood:
3	chr19:35759152..35761759-chr19:35938790..35942242,3	MCF-7	breast:
4	chr19:35755149..35764508-chr19:35799437..35813142,44	MCF-7	breast:
5	chr19:35758290..35762202-chr19:35770035..35773582,5	K562	blood:
6	chr19:35519701..35523372-chr19:35759122..35762184,3	MCF-7	breast:
7	chr19:35601805..35607657-chr19:35757139..35762248,8	MCF-7	breast:
8	chr19:35631019..35636055-chr19:35759105..35762052,6	K562	blood:
9	chr19:35758925..35762628-chr19:36133039..36136228,4	MCF-7	breast:
10	chr19:35761264..35763399-chr19:35801388..35804082,2	K562	blood:
11	chr19:35621827..35625973-chr19:35758783..35761524,4	K562	blood:
12	chr19:35643953..35647244-chr19:35757991..35762600,5	K562	blood:
13	chr19:35758781..35763844-chr19:35840402..35843897,5	K562	blood:
14	chr19:35757826..35762091-chr19:35999806..36002359,4	MCF-7	breast:
15	chr19:35632199..35636848-chr19:35758097..35761761,8	K562	blood:
16	chr19:35759344..35762217-chr19:35841314..35843989,4	MCF-7	breast:
17	chr19:35757352..35763490-chr19:35798817..35804347,10	MCF-7	breast:
18	chr19:35760013..35761636-chr19:35979753..35981551,2	MCF-7	breast:

No data

Variant related genes	Relation type
USF2	TF binding region
ENSG00000105698	Chromatin interaction
ENSG00000105711	Chromatin interaction
ENSG00000266964	Chromatin interaction
ENSG00000126262	Chromatin interaction
ENSG00000188508	Chromatin interaction
ENSG00000161249	Chromatin interaction
ENSG00000126266	Chromatin interaction
ENSG00000105697	Chromatin interaction
ENSG00000089327	Chromatin interaction
ENSG00000105672	Chromatin interaction
ENSG00000012124	Chromatin interaction
ENSG00000153902	Chromatin interaction
ENSG00000105695	Chromatin interaction
ENSG00000221946	Chromatin interaction
ENSG00000089356	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10405246	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410675	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10414846	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419261	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419959	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10421096	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421504	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421599	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421768	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10424619	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1051995	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052033	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12973672	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12974791	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12975284	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12979058	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12979792	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981527	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12984022	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12985618	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12986033	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13345192	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073899	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280744	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280745	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280747	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365136	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34832786	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35250673	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35497966	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35959789	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62109572	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62112772	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71352913	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256866	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8101606	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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 miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
9	nsv911619	chr19:35749563-35775441	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
10	nsv911620	chr19:35752917-35771382	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
11	nsv911621	chr19:35752917-35772471	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
12	nsv911622	chr19:35752917-35773146	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
13	nsv911623	chr19:35752917-35775441	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
14	nsv911624	chr19:35759043-35771382	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	n/a
15	esv3327868	chr19:35759137-35761985	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	n/a
16	nsv579396	chr19:35759517-35763696	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35760800-35761600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr19:35760800-35761600	Enhancers	Fetal Heart	heart
3	chr19:35760800-35761600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr19:35760800-35761800	Flanking Active TSS	Liver	Liver
5	chr19:35761000-35761600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:35761000-35761600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:35761000-35761600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr19:35761000-35761600	Genic enhancers	Fetal Muscle Leg	muscle
9	chr19:35761000-35761600	Genic enhancers	Left Ventricle	heart
10	chr19:35761000-35761600	Genic enhancers	Lung	lung
11	chr19:35761000-35761600	Genic enhancers	Rectal Mucosa Donor 31	rectum
12	chr19:35761000-35761600	Genic enhancers	K562	blood
13	chr19:35761000-35761800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:35761000-35761800	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr19:35761000-35761800	Enhancers	Stomach Mucosa	stomach
16	chr19:35761000-35761800	Weak transcription	HSMMtube	muscle
17	chr19:35761000-35762000	Weak transcription	Small Intestine	intestine
18	chr19:35761000-35762200	Genic enhancers	Right Ventricle	heart
19	chr19:35761000-35762600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:35761000-35763800	Genic enhancers	Primary B cells from cord blood	blood
21	chr19:35761000-35763800	Genic enhancers	Spleen	Spleen
22	chr19:35761000-35764400	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr19:35761000-35764400	Genic enhancers	Adipose Nuclei	Adipose
24	chr19:35761000-35765800	Genic enhancers	Placenta	Placenta
25	chr19:35761000-35770400	Weak transcription	HSMM	muscle
26	chr19:35761200-35761600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
27	chr19:35761200-35761600	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:35761200-35761600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
29	chr19:35761200-35761600	Genic enhancers	Primary T cells from cord blood	blood
30	chr19:35761200-35761600	Enhancers	Primary hematopoietic stem cells	blood
31	chr19:35761200-35761600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
32	chr19:35761200-35761600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:35761200-35761600	Genic enhancers	Colonic Mucosa	Colon
34	chr19:35761200-35761600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr19:35761200-35761600	Genic enhancers	Fetal Intestine Large	intestine
36	chr19:35761200-35761600	Genic enhancers	Fetal Intestine Small	intestine
37	chr19:35761200-35761600	Genic enhancers	Gastric	stomach
38	chr19:35761200-35761600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
39	chr19:35761200-35761600	Genic enhancers	Thymus	Thymus
40	chr19:35761200-35761600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
41	chr19:35761200-35761800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:35761200-35761800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:35761200-35761800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:35761200-35761800	Genic enhancers	Brain Substantia Nigra	brain
45	chr19:35761200-35761800	Genic enhancers	Colon Smooth Muscle	Colon
46	chr19:35761200-35761800	Enhancers	Fetal Brain Male	brain
47	chr19:35761200-35761800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
48	chr19:35761200-35761800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
49	chr19:35761200-35762200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr19:35761200-35762200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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