Variant report

Variant	rs58943948
Chromosome Location	chr3:49918975-49918976
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	POLR2A	chr3:49916166-49923391	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:49917897-49920397	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr3:49918314-49920607	HCT-116	colon:	n/a	n/a
4	POLR2A	chr3:49911230-49922975	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr3:49917041-49920433	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr3:49918306-49920583	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:49917501..49919424-chr3:49920193..49922389,2	K562	blood:
2	chr3:49908054..49910878-chr3:49916403..49919498,3	K562	blood:
3	chr3:49918459..49920341-chr3:49922556..49924105,2	K562	blood:
4	chr3:49918643..49920553-chr3:49922837..49925319,3	MCF-7	breast:

Variant related genes	Relation type
ACTBP13	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6785500	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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 miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49912000-49919000	Weak transcription	Spleen	Spleen
2	chr3:49914600-49920200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:49917000-49920200	Enhancers	Fetal Intestine Small	intestine
4	chr3:49917200-49919000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:49917200-49919400	Enhancers	Fetal Lung	lung
6	chr3:49917200-49919400	Enhancers	Stomach Smooth Muscle	stomach
7	chr3:49917200-49919400	Enhancers	K562	blood
8	chr3:49917200-49919600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:49917200-49920000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:49917200-49920200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:49917200-49920200	Enhancers	Fetal Intestine Large	intestine
12	chr3:49917200-49920400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:49917400-49919200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:49917800-49919600	Enhancers	Stomach Mucosa	stomach
15	chr3:49917800-49920200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:49917800-49920200	Enhancers	Right Ventricle	heart
17	chr3:49917800-49920200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:49917800-49920400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:49918000-49919000	Flanking Active TSS	Fetal Brain Female	brain
20	chr3:49918000-49919000	Enhancers	Gastric	stomach
21	chr3:49918000-49919600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:49918000-49919800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr3:49918000-49919800	Enhancers	Brain Angular Gyrus	brain
24	chr3:49918000-49920000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr3:49918000-49920000	Enhancers	Brain Anterior Caudate	brain
26	chr3:49918000-49920200	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr3:49918000-49920200	Enhancers	Fetal Stomach	stomach
28	chr3:49918000-49920200	Enhancers	Psoas Muscle	Psoas
29	chr3:49918000-49920200	Enhancers	Right Atrium	heart
30	chr3:49918000-49920400	Enhancers	Left Ventricle	heart
31	chr3:49918200-49919600	Enhancers	Fetal Heart	heart
32	chr3:49918200-49920400	Enhancers	Placenta	Placenta
33	chr3:49918400-49919400	Enhancers	Esophagus	oesophagus
34	chr3:49918400-49919600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:49918400-49919600	Enhancers	Fetal Thymus	thymus
36	chr3:49918400-49919800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:49918400-49919800	Weak transcription	Brain Substantia Nigra	brain
38	chr3:49918400-49920000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr3:49918400-49920000	Enhancers	Ovary	ovary
40	chr3:49918400-49920200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:49918600-49919000	Enhancers	Lung	lung
42	chr3:49918600-49919400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr3:49918600-49919600	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr3:49918600-49919800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr3:49918600-49919800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr3:49918600-49920000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr3:49918600-49920000	Enhancers	Duodenum Mucosa	Duodenum
48	chr3:49918600-49920000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr3:49918600-49920000	Enhancers	HSMMtube	muscle
50	chr3:49918600-49920400	Bivalent Enhancer	Adipose Nuclei	Adipose

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