Variant report

Variant	rs56774032
Chromosome Location	chr5:7816354-7816355
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:7815132..7817938-chr5:7825115..7826911,2	K562	blood:
2	chr5:7775938..7777683-chr5:7815092..7817097,2	MCF-7	breast:
3	chr5:7816149..7817026-chr5:7856829..7857627,3	MCF-7	breast:
4	chr5:7392850..7393487-chr5:7816258..7816812,2	MCF-7	breast:
5	chr5:6820753..6821547-chr5:7816144..7817013,2	MCF-7	breast:
6	chr5:7755134..7755770-chr5:7816100..7816964,3	MCF-7	breast:
7	chr5:7762082..7763082-chr5:7816072..7817044,6	MCF-7	breast:
8	chr5:7816093..7817014-chr5:7850949..7851566,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124275	Chromatin interaction
ENSG00000215217	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1993716	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1993717	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1024268	chr5:7707047-7821303	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv461927	chr5:7757812-7854289	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv597004	chr5:7757812-7854289	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7780200-7816400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:7795800-7819800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:7797000-7816400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr5:7803800-7824800	Weak transcription	Aorta	Aorta
5	chr5:7806000-7823600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:7808400-7827000	Weak transcription	Brain Substantia Nigra	brain
7	chr5:7809000-7816800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:7814600-7816800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:7814800-7816600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:7814800-7816800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr5:7814800-7817000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:7814800-7817400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:7815000-7817200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:7815000-7817400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:7815200-7816400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:7815200-7816800	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:7815200-7817400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:7815400-7816400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr5:7815800-7816400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr5:7815800-7816600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:7815800-7816600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:7815800-7816800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr5:7815800-7817000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:7816000-7816400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:7816000-7816400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:7816000-7816400	Enhancers	Fetal Intestine Large	intestine
27	chr5:7816000-7816400	Enhancers	Fetal Kidney	kidney
28	chr5:7816000-7816400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr5:7816000-7816600	Enhancers	GM12878-XiMat	blood
30	chr5:7816000-7816600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr5:7816000-7816800	Enhancers	Brain Anterior Caudate	brain
32	chr5:7816000-7816800	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr5:7816000-7817000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:7816000-7817000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:7816000-7817800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr5:7816000-7819200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:7816000-7819200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:7816200-7816400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr5:7816200-7816400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
40	chr5:7816200-7816400	Enhancers	Brain Angular Gyrus	brain
41	chr5:7816200-7816400	Enhancers	Colon Smooth Muscle	Colon
42	chr5:7816200-7816400	Enhancers	Fetal Intestine Small	intestine
43	chr5:7816200-7816400	Bivalent Enhancer	Fetal Stomach	stomach
44	chr5:7816200-7816400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
45	chr5:7816200-7816400	Bivalent Enhancer	HepG2	liver
46	chr5:7816200-7816600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr5:7816200-7816600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr5:7816200-7816600	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr5:7816200-7816800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr5:7816200-7816800	Enhancers	Primary B cells from peripheral blood	blood

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