Variant report

Variant	rs56947799
Chromosome Location	chr17:45994524-45994525
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45978419..45981029-chr17:45992865..45995390,2	MCF-7	breast:
2	chr17:45960015..45962438-chr17:45993771..45995735,2	MCF-7	breast:
3	chr17:45993432..45995637-chr17:46048272..46050209,2	K562	blood:
4	chr17:45993682..45996053-chr17:46022595..46024336,2	MCF-7	breast:
5	chr17:45993823..45996426-chr17:45998099..46000336,2	K562	blood:
6	chr17:45991986..45994660-chr17:45998582..46001397,3	K562	blood:
7	chr17:45990204..45992323-chr17:45993152..45994828,2	MCF-7	breast:
8	chr17:45993643..45995953-chr17:46019014..46020704,3	MCF-7	breast:
9	chr17:45971250..45975448-chr17:45992732..45995737,5	MCF-7	breast:
10	chr17:45992911..45994770-chr17:46006904..46009157,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167182	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000108439	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000263798	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2525089	1.00[ASN][1000 genomes]
rs2525099	1.00[ASN][1000 genomes]
rs2525100	1.00[ASN][1000 genomes]
rs2597167	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597176	1.00[ASN][1000 genomes]
rs2923063	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60163848	1.00[ASN][1000 genomes]
rs61521088	1.00[ASN][1000 genomes]
rs73321620	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73321625	1.00[ASN][1000 genomes]
rs73321628	1.00[ASN][1000 genomes]
rs73321689	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73985431	1.00[ASN][1000 genomes]
rs73985445	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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:126 , 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	chr17:45976400-45995400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:45977600-45995000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:45979800-46000400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr17:45980200-46001800	Weak transcription	K562	blood
8	chr17:45980200-46002400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:45980200-46006400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr17:45982400-46000600	Weak transcription	Stomach Mucosa	stomach
11	chr17:45982600-45996200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:45983000-46001000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr17:45983000-46004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:45983200-45995200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr17:45983200-45995200	Weak transcription	HUVEC	blood vessel
16	chr17:45983200-46000400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr17:45983200-46001200	Weak transcription	A549	lung
18	chr17:45983200-46018200	Weak transcription	Fetal Brain Male	brain
19	chr17:45983400-46000600	Weak transcription	NHDF-Ad	bronchial
20	chr17:45984200-46000600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr17:45985600-46000600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr17:45986000-46000400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr17:45987000-46000200	Weak transcription	Aorta	Aorta
24	chr17:45987200-45997000	Weak transcription	HepG2	liver
25	chr17:45988400-46000400	Weak transcription	Brain Substantia Nigra	brain
26	chr17:45988400-46000600	Weak transcription	HSMM	muscle
27	chr17:45991800-45995000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:45991800-45995200	Strong transcription	Fetal Intestine Small	intestine
29	chr17:45991800-45996400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:45991800-46000400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr17:45991800-46006400	Strong transcription	Fetal Stomach	stomach
32	chr17:45992000-45994600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr17:45992000-45995200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr17:45992000-45995200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr17:45992000-45995200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:45992000-45995400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr17:45992000-45995400	Strong transcription	Thymus	Thymus
38	chr17:45992000-45996400	Strong transcription	Dnd41	blood
39	chr17:45992200-45995400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr17:45992400-45994600	Strong transcription	Colonic Mucosa	Colon
41	chr17:45992400-45994600	Enhancers	Right Atrium	heart
42	chr17:45992400-45994800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr17:45992400-46008400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr17:45992600-45994600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:45992600-45994600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr17:45992600-45994600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:45992600-45994600	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr17:45992600-45994600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr17:45992600-45995200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr17:45992600-45995200	Strong transcription	Duodenum Mucosa	Duodenum

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