Variant report

Variant	rs55956628
Chromosome Location	chr17:45996264-45996265
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45985099..45987381-chr17:45994807..45997367,2	MCF-7	breast:
2	chr17:45993823..45996426-chr17:45998099..46000336,2	K562	blood:
3	chr17:45975938..45978539-chr17:45995785..45997844,2	MCF-7	breast:
4	chr17:45972447..45975064-chr17:45996056..45998387,2	MCF-7	breast:
5	chr17:45995492..45998307-chr17:46023078..46025129,2	MCF-7	breast:
6	chr17:45972904..45975021-chr17:45994659..45996508,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167182	Chromatin interaction
ENSG00000264920	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1133221	0.92[ASN][1000 genomes]
rs16949270	0.91[ASN][1000 genomes]
rs16949296	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs16949427	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16949651	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1986694	0.82[ASN][1000 genomes]
rs2325750	0.83[ASN][1000 genomes]
rs3764393	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs56006220	0.92[ASN][1000 genomes]
rs61396871	0.81[ASN][1000 genomes]
rs73323310	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic 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	48 gene(s)	inside rSNPs	diseases
3	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
4	nsv1062503	chr17:45977445-46021384	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45975200-45999400	Weak transcription	Fetal Kidney	kidney
2	chr17:45975200-46000400	Weak transcription	Small Intestine	intestine
3	chr17:45975800-46000600	Weak transcription	Hela-S3	cervix
4	chr17:45979800-46000400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:45980200-46001800	Weak transcription	K562	blood
6	chr17:45980200-46002400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:45980200-46006400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:45982400-46000600	Weak transcription	Stomach Mucosa	stomach
9	chr17:45983000-46001000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:45983000-46004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:45983200-46000400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr17:45983200-46001200	Weak transcription	A549	lung
13	chr17:45983200-46018200	Weak transcription	Fetal Brain Male	brain
14	chr17:45983400-46000600	Weak transcription	NHDF-Ad	bronchial
15	chr17:45984200-46000600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:45985600-46000600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr17:45986000-46000400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr17:45987000-46000200	Weak transcription	Aorta	Aorta
19	chr17:45987200-45997000	Weak transcription	HepG2	liver
20	chr17:45988400-46000400	Weak transcription	Brain Substantia Nigra	brain
21	chr17:45988400-46000600	Weak transcription	HSMM	muscle
22	chr17:45991800-45996400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:45991800-46000400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr17:45991800-46006400	Strong transcription	Fetal Stomach	stomach
25	chr17:45992000-45996400	Strong transcription	Dnd41	blood
26	chr17:45992400-46008400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr17:45992600-45996400	Strong transcription	Primary B cells from cord blood	blood
28	chr17:45992600-45997200	Strong transcription	Fetal Intestine Large	intestine
29	chr17:45992600-46000400	Weak transcription	HSMMtube	muscle
30	chr17:45992800-45996400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:45993000-45996600	Strong transcription	Primary T cells from cord blood	blood
32	chr17:45993400-46000400	Weak transcription	NH-A	brain
33	chr17:45993600-45996400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:45993600-46000600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:45993800-45996400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr17:45993800-45997000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:45993800-46017400	Weak transcription	Psoas Muscle	Psoas
38	chr17:45994000-45997800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr17:45994000-46000600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr17:45994000-46013200	Weak transcription	Fetal Heart	heart
41	chr17:45994200-45996400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr17:45994200-45997000	Weak transcription	Ovary	ovary
43	chr17:45994200-46000400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr17:45994200-46000400	Weak transcription	Left Ventricle	heart
45	chr17:45994200-46006000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr17:45994400-45998400	Weak transcription	GM12878-XiMat	blood
47	chr17:45994400-46000200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:45994400-46000400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr17:45994400-46000400	Weak transcription	Gastric	stomach
50	chr17:45994400-46002400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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