Variant report

Variant	rs55688849
Chromosome Location	chr10:49705425-49705426
allele	C/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	POLR2A	chr10:49705262-49705573	HUVEC	blood vessel:	n/a	n/a
2	FOSL2	chr10:49705233-49705745	SK-N-SH	brain:	n/a	chr10:49705448-49705460 chr10:49705450-49705459 chr10:49705450-49705457 chr10:49705449-49705459 chr10:49705449-49705459 chr10:49705449-49705458
3	FOS	chr10:49705282-49705591	MCF10A-Er-Src	breast:	n/a	chr10:49705448-49705460 chr10:49705450-49705459 chr10:49705450-49705457 chr10:49705448-49705459 chr10:49705449-49705459 chr10:49705449-49705459 chr10:49705449-49705458
4	REST	chr10:49705253-49705470	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr10:49704933-49706121	U87	brain:	n/a	n/a
6	POLR2A	chr10:49705219-49705619	SK-N-SH	brain:	n/a	n/a
7	FOSL2	chr10:49705211-49705601	A549	lung:	n/a	chr10:49705448-49705460 chr10:49705450-49705459 chr10:49705450-49705457 chr10:49705449-49705459 chr10:49705449-49705459 chr10:49705449-49705458
8	FOS	chr10:49705266-49705596	MCF10A-Er-Src	breast:	n/a	chr10:49705448-49705460 chr10:49705450-49705459 chr10:49705450-49705457 chr10:49705448-49705459 chr10:49705449-49705459 chr10:49705449-49705459 chr10:49705449-49705458
9	FOS	chr10:49705291-49705596	MCF10A-Er-Src	breast:	n/a	chr10:49705448-49705460 chr10:49705450-49705459 chr10:49705450-49705457 chr10:49705448-49705459 chr10:49705449-49705459 chr10:49705449-49705459 chr10:49705449-49705458
10	STAT3	chr10:49705378-49705567	MCF10A-Er-Src	breast:	n/a	chr10:49705465-49705476 chr10:49705402-49705410 chr10:49705449-49705458
11	FOSL2	chr10:49705238-49705593	SK-N-SH	brain:	n/a	chr10:49705448-49705460 chr10:49705450-49705459 chr10:49705450-49705457 chr10:49705449-49705459 chr10:49705449-49705459 chr10:49705449-49705458
12	POLR2A	chr10:49704900-49706127	U87	brain:	n/a	n/a
13	JUN	chr10:49705031-49706491	K562	blood:	n/a	chr10:49705448-49705460 chr10:49705450-49705459 chr10:49705450-49705457 chr10:49706340-49706348 chr10:49705449-49705459 chr10:49705449-49705459 chr10:49705449-49705458
14	FOS	chr10:49705264-49705632	MCF10A-Er-Src	breast:	n/a	chr10:49705448-49705460 chr10:49705450-49705459 chr10:49705450-49705457 chr10:49705448-49705459 chr10:49705449-49705459 chr10:49705449-49705459 chr10:49705449-49705458
15	ELF1	chr10:49705262-49705554	K562	blood:	n/a	chr10:49705398-49705411
16	STAT3	chr10:49705344-49705544	MCF10A-Er-Src	breast:	n/a	chr10:49705465-49705476 chr10:49705402-49705410 chr10:49705449-49705458
17	JUND	chr10:49704930-49705902	SK-N-SH	brain:	n/a	chr10:49705448-49705460 chr10:49705450-49705459 chr10:49705450-49705457 chr10:49705449-49705459 chr10:49705449-49705459 chr10:49705449-49705458
18	MAFK	chr10:49705106-49705427	HepG2	liver:	n/a	chr10:49705248-49705263 chr10:49705252-49705266 chr10:49705251-49705267 chr10:49705249-49705269 chr10:49705248-49705264
19	MAFK	chr10:49705132-49705437	IMR90	lung:	n/a	chr10:49705248-49705263 chr10:49705252-49705266 chr10:49705251-49705267 chr10:49705249-49705269 chr10:49705248-49705264
20	STAT3	chr10:49705399-49705617	MCF10A-Er-Src	breast:	n/a	chr10:49705465-49705476 chr10:49705402-49705410 chr10:49705449-49705458
21	POLR2A	chr10:49705314-49705519	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr10:49705292-49705426	HUVEC	blood vessel:	n/a	n/a
23	JUND	chr10:49705251-49705655	K562	blood:	n/a	chr10:49705448-49705460 chr10:49705450-49705459 chr10:49705450-49705457 chr10:49705449-49705459 chr10:49705449-49705459 chr10:49705449-49705458
24	FOS	chr10:49705232-49705721	HUVEC	blood vessel:	n/a	chr10:49705448-49705460 chr10:49705450-49705459 chr10:49705450-49705457 chr10:49705448-49705459 chr10:49705449-49705459 chr10:49705449-49705459 chr10:49705449-49705458

No.	Distal block	Cell Line	Cell type
1	chr10:49701131..49703834-chr10:49704395..49706982,4	K562	blood:
2	chr10:49700642..49703834-chr10:49704395..49707390,3	K562	blood:
3	chr10:49684937..49687761-chr10:49703928..49705850,2	MCF-7	breast:
4	chr10:49659900..49662821-chr10:49704182..49706648,2	K562	blood:
5	chr10:49698967..49701120-chr10:49704411..49706305,2	K562	blood:
6	chr10:49703894..49706471-chr10:49715514..49717897,2	K562	blood:

Variant related genes	Relation type
ARHGAP22	TF binding region
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49699200-49706000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:49699200-49706400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:49700600-49706800	Enhancers	K562	blood
5	chr10:49701400-49706000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:49701400-49706000	Enhancers	HMEC	breast
7	chr10:49701600-49716400	Weak transcription	Right Atrium	heart
8	chr10:49702200-49705800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:49702200-49707400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:49702400-49718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:49703200-49706200	Genic enhancers	HSMM	muscle
12	chr10:49703200-49707000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:49703400-49706000	Enhancers	Placenta	Placenta
14	chr10:49703800-49705800	Enhancers	NHEK	skin
15	chr10:49703800-49706200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr10:49703800-49706200	Genic enhancers	Muscle Satellite Cultured Cells	--
17	chr10:49703800-49706400	Enhancers	HSMMtube	muscle
18	chr10:49704000-49706200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:49704200-49706000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:49704200-49706000	Enhancers	NH-A	brain
21	chr10:49704200-49706000	Enhancers	NHLF	lung
22	chr10:49704200-49707200	Enhancers	NHDF-Ad	bronchial
23	chr10:49704400-49706200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:49704400-49707800	Enhancers	Primary hematopoietic stem cells	blood
25	chr10:49704600-49705600	Enhancers	Esophagus	oesophagus
26	chr10:49704600-49705800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr10:49704600-49706000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr10:49704600-49706000	Enhancers	Fetal Stomach	stomach
29	chr10:49704600-49706200	Enhancers	Fetal Thymus	thymus
30	chr10:49704600-49706600	Enhancers	Ovary	ovary
31	chr10:49704800-49705800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:49704800-49705800	Enhancers	Fetal Muscle Trunk	muscle
33	chr10:49704800-49706000	Enhancers	Fetal Muscle Leg	muscle
34	chr10:49704800-49706200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr10:49704800-49706200	Enhancers	HUVEC	blood vessel
36	chr10:49704800-49706200	Genic enhancers	Osteobl	bone
37	chr10:49705000-49705600	Enhancers	Colon Smooth Muscle	Colon
38	chr10:49705000-49705600	Enhancers	Rectal Smooth Muscle	rectum
39	chr10:49705000-49705800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr10:49705000-49705800	Enhancers	Brain Hippocampus Middle	brain
41	chr10:49705000-49706000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr10:49705000-49706200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:49705000-49707200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr10:49705200-49705800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr10:49705200-49706000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:49705200-49706000	Enhancers	Brain Anterior Caudate	brain
47	chr10:49705200-49706000	Enhancers	Stomach Smooth Muscle	stomach
48	chr10:49705200-49706000	Enhancers	Spleen	Spleen
49	chr10:49705400-49705600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:49705400-49705600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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