Variant report

Variant	rs71377326
Chromosome Location	chr17:45986864-45986865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45985387..45988064-chr17:45989640..45992704,3	MCF-7	breast:
2	chr17:45985355..45989671-chr17:46017595..46019779,4	MCF-7	breast:
3	chr17:45985712..45987886-chr17:46012163..46013782,2	MCF-7	breast:
4	chr17:45980692..45982810-chr17:45985460..45986987,2	MCF-7	breast:
5	chr17:45985212..45987744-chr17:46022606..46024465,2	MCF-7	breast:
6	chr17:45985099..45987381-chr17:45994807..45997367,2	MCF-7	breast:
7	chr17:45981397..45984686-chr17:45985250..45989369,5	K562	blood:
8	chr17:45985608..45987124-chr17:46032994..46035292,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000263798	Chromatin interaction
ENSG00000108439	Chromatin interaction
ENSG00000234494	Chromatin interaction
ENSG00000167183	Chromatin interaction

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

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

rs_ID	r²[population]
rs35611888	0.82[AFR][1000 genomes]
rs8080718	0.85[AFR][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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45974600-45992000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr17:45975000-45993400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:45975200-45999400	Weak transcription	Fetal Kidney	kidney
4	chr17:45975200-46000400	Weak transcription	Small Intestine	intestine
5	chr17:45975600-45992800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr17:45975800-46000600	Weak transcription	Hela-S3	cervix
7	chr17:45976400-45993200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr17:45976400-45995400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:45976800-45987000	Strong transcription	Fetal Intestine Small	intestine
10	chr17:45977600-45992800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:45977600-45995000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:45977800-45992000	Weak transcription	Dnd41	blood
13	chr17:45977800-45992600	Weak transcription	Fetal Intestine Large	intestine
14	chr17:45977800-45992600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:45977800-45992800	Weak transcription	GM12878-XiMat	blood
16	chr17:45979200-45987400	Weak transcription	Thymus	Thymus
17	chr17:45979800-46000400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr17:45980000-45992600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:45980000-45992800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:45980000-45992800	Weak transcription	Brain Germinal Matrix	brain
21	chr17:45980200-46001800	Weak transcription	K562	blood
22	chr17:45980200-46002400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr17:45980200-46006400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr17:45980400-45992400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:45980400-45993600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr17:45980800-45987000	Enhancers	Left Ventricle	heart
27	chr17:45980800-45992600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:45981800-45987200	Enhancers	Adipose Nuclei	Adipose
29	chr17:45982200-45988400	Strong transcription	Primary T cells from cord blood	blood
30	chr17:45982400-46000600	Weak transcription	Stomach Mucosa	stomach
31	chr17:45982600-45992600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:45982600-45992600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr17:45982600-45992800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:45982600-45996200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr17:45982800-45993000	Weak transcription	NHEK	skin
36	chr17:45983000-45988200	Weak transcription	Liver	Liver
37	chr17:45983000-45993800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr17:45983000-46001000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:45983000-46004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:45983200-45988000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr17:45983200-45992400	Weak transcription	Colonic Mucosa	Colon
42	chr17:45983200-45992600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr17:45983200-45992600	Weak transcription	Gastric	stomach
44	chr17:45983200-45993200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:45983200-45995200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr17:45983200-45995200	Weak transcription	HUVEC	blood vessel
47	chr17:45983200-46000400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr17:45983200-46001200	Weak transcription	A549	lung
49	chr17:45983200-46018200	Weak transcription	Fetal Brain Male	brain
50	chr17:45983400-45992800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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