Variant report

Variant	rs71650378
Chromosome Location	chr1:228225176-228225177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228206015..228208384-chr1:228223171..228225438,2	K562	blood:
2	chr1:228224962..228226572-chr1:228269491..228271480,2	K562	blood:
3	chr1:228197639..228199875-chr1:228224226..228226074,2	K562	blood:
4	chr1:228222291..228225840-chr1:228229698..228232365,4	MCF-7	breast:
5	chr1:228223566..228226544-chr1:228251359..228253705,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143761	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs35028022	1.00[AMR][1000 genomes]
rs35541403	1.00[AMR][1000 genomes]
rs36104676	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
7	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	nsv945349	chr1:228186556-228245135	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228219800-228225400	Weak transcription	Right Atrium	heart
2	chr1:228220000-228225200	Weak transcription	Esophagus	oesophagus
3	chr1:228223000-228226600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:228223800-228225200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:228223800-228225400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr1:228223800-228225400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:228224000-228225400	Bivalent Enhancer	Fetal Lung	lung
8	chr1:228224400-228226000	Bivalent Enhancer	Lung	lung
9	chr1:228224800-228225200	Weak transcription	Fetal Heart	heart
10	chr1:228224800-228225400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:228224800-228225400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:228225000-228225200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
13	chr1:228225000-228225200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
14	chr1:228225000-228225200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr1:228225000-228225200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:228225000-228225200	Enhancers	Right Ventricle	heart
17	chr1:228225000-228225400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:228225000-228225400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:228225000-228225400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
20	chr1:228225000-228225400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
21	chr1:228225000-228225400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
22	chr1:228225000-228225400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:228225000-228225400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:228225000-228225400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:228225000-228225400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr1:228225000-228225600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr1:228225000-228225800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:228225000-228225800	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr1:228225000-228226000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:228225000-228226000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:228225000-228226200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr1:228225000-228226400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr1:228225000-228226600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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