Variant report

Variant	rs535334880
Chromosome Location	chr19:35761183-35761184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:35761040-35761190	AG10803	skin:	n/a	n/a
2	SIN3AK20	chr19:35760317-35761199	MCF-7	breast:	n/a	n/a
3	CTCF	chr19:35761160-35761310	GM12873	blood:	n/a	n/a
4	CTCF	chr19:35760164-35762284	A549	lung:	n/a	chr19:35760326-35760339
5	PBX3	chr19:35760246-35761192	A549	lung:	n/a	n/a
6	CTCF	chr19:35761120-35761270	GM12873	blood:	n/a	n/a
7	MTA3	chr19:35760938-35761313	GM12878	blood:	n/a	n/a
8	REST	chr19:35758741-35761457	H1-neurons	neurons:	n/a	n/a
9	CTCF	chr19:35761060-35761210	WI-38	lung:	n/a	n/a
10	USF2	chr19:35761167-35761217	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr19:35761180-35761330	HEK293	kidney:	n/a	n/a
12	HCFC1	chr19:35760272-35761348	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr19:35761160-35761310	GM12870	blood:	n/a	n/a
14	CTCF	chr19:35760109-35761524	SK-N-SH	brain:	n/a	chr19:35760326-35760339
15	TCF12	chr19:35760212-35761349	A549	lung:	n/a	n/a

No data

(count:23 , 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	chr19:35631425..35638367-chr19:35753629..35761294,12	MCF-7	breast:
5	chr19:35755149..35764508-chr19:35799437..35813142,44	MCF-7	breast:
6	chr19:35758290..35762202-chr19:35770035..35773582,5	K562	blood:
7	chr19:35489265..35492467-chr19:35757325..35761392,4	MCF-7	breast:
8	chr19:35519701..35523372-chr19:35759122..35762184,3	MCF-7	breast:
9	chr19:35601805..35607657-chr19:35757139..35762248,8	MCF-7	breast:
10	chr19:35631019..35636055-chr19:35759105..35762052,6	K562	blood:
11	chr19:35758925..35762628-chr19:36133039..36136228,4	MCF-7	breast:
12	chr19:35621827..35625973-chr19:35758783..35761524,4	K562	blood:
13	chr19:35643953..35647244-chr19:35757991..35762600,5	K562	blood:
14	chr19:35758781..35763844-chr19:35840402..35843897,5	K562	blood:
15	chr19:35757826..35762091-chr19:35999806..36002359,4	MCF-7	breast:
16	chr19:35632199..35636848-chr19:35758097..35761761,8	K562	blood:
17	chr19:35738397..35739313-chr19:35760217..35761209,4	K562	blood:
18	chr19:35759096..35761188-chr19:36236088..36238876,2	MCF-7	breast:
19	chr19:35758876..35761296-chr19:36162627..36164596,2	MCF-7	breast:
20	chr19:35758596..35761330-chr19:35808386..35811398,6	MCF-7	breast:
21	chr19:35759344..35762217-chr19:35841314..35843989,4	MCF-7	breast:
22	chr19:35757352..35763490-chr19:35798817..35804347,10	MCF-7	breast:
23	chr19:35760013..35761636-chr19:35979753..35981551,2	MCF-7	breast:

No data

Variant related genes	Relation type
USF2	TF binding region
ENSG00000269303	Chromatin interaction
ENSG00000089327	Chromatin interaction
ENSG00000012124	Chromatin interaction
ENSG00000089351	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000105672	Chromatin interaction
ENSG00000161265	Chromatin interaction
ENSG00000126262	Chromatin interaction
ENSG00000105711	Chromatin interaction
ENSG00000089356	Chromatin interaction
ENSG00000105697	Chromatin interaction
ENSG00000188223	Chromatin interaction
ENSG00000226510	Chromatin interaction
ENSG00000153902	Chromatin interaction
ENSG00000188508	Chromatin interaction
ENSG00000205155	Chromatin interaction
ENSG00000266964	Chromatin interaction
ENSG00000161249	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000105695	Chromatin interaction
ENSG00000126266	Chromatin interaction
ENSG00000221946	Chromatin interaction
ENSG00000267120	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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	esv3340188	chr19:35758837-35761310	Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	n/a
15	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
16	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
17	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35757600-35761200	Active TSS	NH-A	brain
2	chr19:35758000-35761200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr19:35758000-35761200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr19:35758000-35761200	Active TSS	Colon Smooth Muscle	Colon
5	chr19:35758000-35761200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr19:35758200-35761200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:35758200-35761200	Active TSS	Muscle Satellite Cultured Cells	--
8	chr19:35758200-35761200	Active TSS	Rectal Smooth Muscle	rectum
9	chr19:35758400-35761200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:35760400-35761200	Active TSS	Fetal Kidney	kidney
11	chr19:35760600-35761200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr19:35760600-35761200	Flanking Active TSS	Colonic Mucosa	Colon
13	chr19:35760600-35761200	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr19:35760600-35761200	Enhancers	NHDF-Ad	bronchial
15	chr19:35760800-35761200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:35760800-35761200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:35760800-35761200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr19:35760800-35761200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:35760800-35761200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr19:35760800-35761200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr19:35760800-35761200	Weak transcription	Primary T cells from cord blood	blood
22	chr19:35760800-35761200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr19:35760800-35761200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr19:35760800-35761200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr19:35760800-35761200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:35760800-35761200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr19:35760800-35761200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:35760800-35761200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr19:35760800-35761200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr19:35760800-35761200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:35760800-35761200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:35760800-35761200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:35760800-35761200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:35760800-35761200	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr19:35760800-35761200	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr19:35760800-35761200	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr19:35760800-35761200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
38	chr19:35760800-35761200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
39	chr19:35760800-35761200	Flanking Active TSS	Pancreas	Pancrea
40	chr19:35760800-35761200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr19:35760800-35761200	Flanking Active TSS	Thymus	Thymus
42	chr19:35760800-35761400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:35760800-35761400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr19:35760800-35761400	Flanking Active TSS	HMEC	breast
45	chr19:35760800-35761600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:35760800-35761600	Enhancers	Fetal Heart	heart
47	chr19:35760800-35761600	Transcr. at gene 5' and 3'	Dnd41	blood
48	chr19:35760800-35761800	Flanking Active TSS	Liver	Liver
49	chr19:35761000-35761200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
50	chr19:35761000-35761200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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