Variant report

Variant	rs807488
Chromosome Location	chr19:36265660-36265661
allele	A/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	JUND	chr19:36265519-36266741	A549	lung:	n/a	chr19:36266301-36266310 chr19:36266354-36266363
2	CEBPB	chr19:36265446-36265818	A549	lung:	n/a	n/a
3	TCF12	chr19:36265573-36266530	A549	lung:	n/a	n/a
4	POLR2A	chr19:36265083-36266581	MCF10A-Er-Src	breast:	n/a	n/a
5	MXI1	chr19:36265260-36267670	SK-N-SH	brain:	n/a	chr19:36266480-36266495
6	STAT1	chr19:36265648-36265690	GM12878	blood:	n/a	n/a
7	SIN3AK20	chr19:36265607-36266655	A549	lung:	n/a	n/a
8	E2F6	chr19:36265438-36266745	A549	lung:	n/a	chr19:36266321-36266336 chr19:36266489-36266499 chr19:36266211-36266220 chr19:36266443-36266453
9	SP1	chr19:36265544-36266720	A549	lung:	n/a	chr19:36266426-36266440 chr19:36266320-36266329 chr19:36266254-36266266 chr19:36266431-36266440 chr19:36266430-36266439 chr19:36266319-36266331 chr19:36266230-36266240 chr19:36266320-36266330 chr19:36266298-36266319 chr19:36266281-36266290 chr19:36266254-36266265 chr19:36266210-36266231 chr19:36266431-36266440 chr19:36266279-36266291 chr19:36266429-36266441 chr19:36266256-36266265 chr19:36266320-36266330 chr19:36266230-36266240 chr19:36266279-36266290 chr19:36266321-36266330 chr19:36266279-36266291 chr19:36266351-36266372 chr19:36266319-36266330 chr19:36266430-36266440 chr19:36266254-36266266 chr19:36266429-36266441 chr19:36266319-36266331
10	POLR2A	chr19:36265549-36265799	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr19:36265614-36265672	ProgFib	skin:	n/a	n/a
12	MAX	chr19:36265394-36267015	A549	lung:	n/a	chr19:36266320-36266330 chr19:36266480-36266489
13	CEBPB	chr19:36265311-36265940	A549	lung:	n/a	n/a
14	CEBPB	chr19:36265490-36265798	HepG2	liver:	n/a	n/a
15	POLR2A	chr19:36265473-36265911	K562	blood:	n/a	n/a
16	POLR2A	chr19:36265628-36265853	MCF-7	breast:	n/a	n/a
17	POLR2A	chr19:36265495-36266874	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr19:36265552-36266581	MCF10A-Er-Src	breast:	n/a	n/a
19	CREB1	chr19:36265501-36266002	A549	lung:	n/a	n/a
20	MAX	chr19:36265624-36266904	K562	blood:	n/a	chr19:36266320-36266330 chr19:36266480-36266489
21	CEBPB	chr19:36265487-36265786	K562	blood:	n/a	n/a
22	HCFC1	chr19:36265460-36266828	Hela-S3	cervix:	n/a	n/a
23	REST	chr19:36265488-36265873	A549	lung:	n/a	n/a
24	MAX	chr19:36265554-36266808	A549	lung:	n/a	chr19:36266320-36266330 chr19:36266480-36266489
25	BCL3	chr19:36265316-36266349	A549	lung:	n/a	chr19:36266281-36266290 chr19:36266264-36266273

No.	Distal block	Cell Line	Cell type
1	chr19:36245255..36250047-chr19:36263979..36267864,8	K562	blood:
2	chr19:36247584..36253409-chr19:36264102..36268750,7	K562	blood:
3	chr19:36261311..36264277-chr19:36264706..36266602,2	MCF-7	breast:
4	chr19:35738434..35740432-chr19:36265157..36268131,2	MCF-7	breast:
5	chr19:36242461..36245033-chr19:36262811..36266302,4	K562	blood:
6	chr19:36234776..36236564-chr19:36265019..36266986,2	K562	blood:
7	chr19:36239350..36241235-chr19:36263074..36266129,3	MCF-7	breast:
8	chr19:36255893..36262036-chr19:36262850..36268803,8	MCF-7	breast:
9	chr19:36239474..36241411-chr19:36265453..36267969,2	K562	blood:
10	chr19:36207787..36211113-chr19:36265053..36268029,3	K562	blood:
11	chr19:36223600..36226210-chr19:36262533..36266105,3	K562	blood:
12	chr19:36207151..36210695-chr19:36264649..36268718,5	K562	blood:
13	chr19:36208210..36211144-chr19:36264877..36267691,4	MCF-7	breast:
14	chr19:36247404..36252021-chr19:36265348..36272678,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267049	TF binding region
ARHGAP33	TF binding region
ENSG00000267049	Chromatin interaction
ENSG00000267328	Chromatin interaction
ENSG00000105663	Chromatin interaction
ENSG00000267796	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000205155	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000267439	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000161265	Chromatin interaction
ENSG00000267120	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11882183	0.86[EUR][1000 genomes]
rs231228	0.96[AFR][1000 genomes];0.93[EUR][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	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	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
7	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv911637	chr19:36261928-36309321	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
14	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36249800-36265800	Weak transcription	Fetal Kidney	kidney
2	chr19:36250400-36265800	Weak transcription	Small Intestine	intestine
3	chr19:36250400-36266000	Weak transcription	Aorta	Aorta
4	chr19:36251000-36265800	Weak transcription	HUVEC	blood vessel
5	chr19:36251000-36266000	Weak transcription	HSMM	muscle
6	chr19:36253200-36266000	Weak transcription	HSMMtube	muscle
7	chr19:36256200-36265800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr19:36256200-36265800	Weak transcription	GM12878-XiMat	blood
9	chr19:36256200-36266000	Weak transcription	Liver	Liver
10	chr19:36257400-36266000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:36258800-36266000	Weak transcription	Gastric	stomach
12	chr19:36259400-36265800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:36259400-36265800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:36260000-36265800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:36260000-36266000	Weak transcription	NHLF	lung
16	chr19:36260200-36265800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:36260200-36265800	Weak transcription	Fetal Intestine Large	intestine
18	chr19:36261600-36265800	Weak transcription	Thymus	Thymus
19	chr19:36265200-36265800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:36265200-36265800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:36265200-36265800	Enhancers	Colonic Mucosa	Colon
22	chr19:36265200-36265800	Enhancers	Fetal Lung	lung
23	chr19:36265200-36266000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:36265200-36266000	Flanking Active TSS	A549	lung
25	chr19:36265400-36265800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:36265400-36265800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:36265400-36265800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr19:36265400-36265800	Enhancers	Primary T cells from cord blood	blood
29	chr19:36265400-36265800	Enhancers	Primary hematopoietic stem cells	blood
30	chr19:36265400-36265800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:36265400-36265800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:36265400-36265800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:36265400-36265800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr19:36265400-36265800	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr19:36265400-36265800	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr19:36265400-36265800	Enhancers	Fetal Muscle Leg	muscle
37	chr19:36265400-36265800	Enhancers	Fetal Stomach	stomach
38	chr19:36265400-36265800	Enhancers	Fetal Thymus	thymus
39	chr19:36265400-36265800	Enhancers	Ovary	ovary
40	chr19:36265400-36265800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr19:36265400-36266000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:36265400-36266000	Flanking Active TSS	Fetal Brain Female	brain
43	chr19:36265400-36266000	Enhancers	Placenta	Placenta
44	chr19:36265400-36266000	Enhancers	Right Ventricle	heart
45	chr19:36265400-36266000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr19:36265400-36266000	Enhancers	Stomach Mucosa	stomach
47	chr19:36265400-36266000	Flanking Active TSS	K562	blood
48	chr19:36265400-36266200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr19:36265400-36266200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr19:36265400-36266200	Flanking Active TSS	HepG2	liver

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