Variant report

Variant	rs11669405
Chromosome Location	chr19:36506203-36506204
allele	G/T
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	EBF1	chr19:36505901-36506273	GM12878	blood:	n/a	chr19:36506089-36506100
2	POLR2A	chr19:36505837-36506308	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr19:36504121-36506210	K562	blood:	n/a	n/a
4	EBF1	chr19:36505912-36506257	GM12878	blood:	n/a	chr19:36506089-36506100
5	POLR2A	chr19:36505757-36506376	PFSK-1	brain:	n/a	n/a
6	SIX5	chr19:36504697-36506230	A549	lung:	n/a	n/a
7	EBF1	chr19:36505953-36506226	GM12878	blood:	n/a	chr19:36506089-36506100

No.	Distal block	Cell Line	Cell type
1	chr19:36484477..36488406-chr19:36502641..36506978,6	K562	blood:
2	chr19:36504655..36506922-chr19:36544255..36547222,4	K562	blood:
3	chr19:36505412..36512625-chr19:36513263..36519988,12	K562	blood:
4	chr19:36505439..36507215-chr19:36510451..36512262,2	MCF-7	breast:
5	chr19:36497884..36507784-chr19:36542079..36547610,17	MCF-7	breast:
6	chr19:36484302..36487799-chr19:36505417..36507868,3	K562	blood:
7	chr19:36502189..36508386-chr19:36540645..36546835,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248101	TF binding region
ALKBH6	TF binding region
ENSG00000075702	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000205138	Chromatin interaction
ENSG00000105270	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10402798	1.00[CHD][hapmap]
rs1049339	1.00[CHD][hapmap]
rs11878548	1.00[CHD][hapmap]
rs17882184	1.00[CHD][hapmap]
rs17884776	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs2075472	1.00[LWK][hapmap]
rs34494265	1.00[CHD][hapmap]
rs7245508	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv911641	chr19:36473677-36536938	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv1000212	chr19:36494643-36508508	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36505400-36506400	Flanking Active TSS	Dnd41	blood
2	chr19:36505600-36506400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr19:36505600-36506400	Flanking Active TSS	GM12878-XiMat	blood
4	chr19:36505600-36506600	Flanking Active TSS	A549	lung
5	chr19:36505600-36506800	Flanking Active TSS	Hela-S3	cervix
6	chr19:36505600-36521000	Weak transcription	Fetal Brain Male	brain
7	chr19:36505800-36506400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:36505800-36506400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:36505800-36506400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:36505800-36506400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:36505800-36506600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:36505800-36506600	Weak transcription	Brain Angular Gyrus	brain
13	chr19:36505800-36506600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:36505800-36506600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr19:36505800-36506600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:36505800-36506600	Weak transcription	HSMMtube	muscle
17	chr19:36505800-36506800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:36505800-36507000	Weak transcription	Aorta	Aorta
19	chr19:36505800-36507000	Weak transcription	Ovary	ovary
20	chr19:36505800-36507600	Weak transcription	Adipose Nuclei	Adipose
21	chr19:36505800-36507600	Weak transcription	Brain Substantia Nigra	brain
22	chr19:36505800-36507600	Weak transcription	Right Ventricle	heart
23	chr19:36505800-36508000	Weak transcription	Placenta	Placenta
24	chr19:36505800-36508200	Weak transcription	Lung	lung
25	chr19:36505800-36508800	Weak transcription	Fetal Lung	lung
26	chr19:36505800-36510000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr19:36505800-36511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr19:36505800-36513200	Weak transcription	Gastric	stomach
29	chr19:36505800-36514800	Weak transcription	NHDF-Ad	bronchial
30	chr19:36505800-36522000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr19:36505800-36522200	Weak transcription	Fetal Kidney	kidney
32	chr19:36505800-36522800	Weak transcription	Small Intestine	intestine
33	chr19:36506000-36506400	Enhancers	Primary T cells fromperipheralblood	blood
34	chr19:36506000-36506400	Enhancers	Primary hematopoietic stem cells	blood
35	chr19:36506000-36506400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr19:36506000-36506400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:36506000-36506400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
38	chr19:36506000-36506400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:36506000-36506400	Weak transcription	Brain Anterior Caudate	brain
40	chr19:36506000-36506400	Weak transcription	Brain Germinal Matrix	brain
41	chr19:36506000-36506400	Genic enhancers	Fetal Muscle Leg	muscle
42	chr19:36506000-36506400	Enhancers	Fetal Thymus	thymus
43	chr19:36506000-36506400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr19:36506000-36506400	Flanking Active TSS	HepG2	liver
45	chr19:36506000-36506400	Weak transcription	NHLF	lung
46	chr19:36506000-36506400	Weak transcription	Osteobl	bone
47	chr19:36506000-36506600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:36506000-36506600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:36506000-36506600	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr19:36506000-36506600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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