Variant report

Variant	rs57309152
Chromosome Location	chr7:5711231-5711232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5534705..5536211-chr7:5710695..5713357,2	K562	blood:
2	chr7:5659044..5660899-chr7:5710392..5712990,2	K562	blood:
3	chr7:5702659..5705852-chr7:5707033..5711502,4	K562	blood:
4	chr7:5710944..5713689-chr7:5718852..5721350,4	K562	blood:
5	chr7:5702659..5705052-chr7:5710002..5711592,2	K562	blood:
6	chr7:5566402..5567944-chr7:5708941..5711902,2	K562	blood:
7	chr7:5705184..5710159-chr7:5710704..5713779,6	K562	blood:

Variant related genes	Relation type
ENSG00000263900	Chromatin interaction
ENSG00000207973	Chromatin interaction
ENSG00000237738	Chromatin interaction
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2345938	0.95[ASN][1000 genomes]
rs28519438	0.84[ASN][1000 genomes]
rs35780366	0.80[AMR][1000 genomes]
rs3801012	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3807575	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs3807580	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58364611	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58503972	0.80[EUR][1000 genomes]
rs59086001	0.91[AFR][1000 genomes]
rs59987579	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs60181616	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60372872	0.84[ASN][1000 genomes]
rs60442234	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60889993	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61033429	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61210914	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61260366	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6463513	0.84[ASN][1000 genomes]
rs6944627	0.84[ASN][1000 genomes]
rs6951438	0.95[ASN][1000 genomes]
rs6956564	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6959871	0.87[ASN][1000 genomes]
rs6969585	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6971289	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73339903	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73341604	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7795879	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7804319	0.84[AMR][1000 genomes]
rs7806110	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7809733	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9648579	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9691118	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	336 gene(s)	inside rSNPs	diseases
6	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
7	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
8	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
9	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
10	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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	126 gene(s)	inside rSNPs	diseases
13	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
14	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
15	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1028652	chr7:5706207-5769489	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5674800-5728200	Weak transcription	Small Intestine	intestine
2	chr7:5691000-5712000	Weak transcription	Fetal Kidney	kidney
3	chr7:5691200-5721000	Weak transcription	Pancreas	Pancrea
4	chr7:5692600-5717400	Weak transcription	Hela-S3	cervix
5	chr7:5699200-5723000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:5702000-5717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:5702000-5730600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:5702400-5712600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:5702400-5717000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:5702400-5721400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:5702600-5711600	Weak transcription	Right Atrium	heart
12	chr7:5702600-5717200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:5702600-5717200	Weak transcription	Aorta	Aorta
14	chr7:5702600-5717400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:5702600-5717600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:5702600-5718000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:5702800-5712400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:5702800-5712600	Weak transcription	Esophagus	oesophagus
19	chr7:5702800-5716200	Weak transcription	HSMM	muscle
20	chr7:5702800-5716800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:5702800-5727200	Weak transcription	Psoas Muscle	Psoas
22	chr7:5703000-5711600	Weak transcription	Ovary	ovary
23	chr7:5705200-5711600	Weak transcription	NHDF-Ad	bronchial
24	chr7:5705400-5711600	Weak transcription	Fetal Thymus	thymus
25	chr7:5705800-5713400	Strong transcription	Primary T cells from cord blood	blood
26	chr7:5706000-5712800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:5706000-5713200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:5706800-5716400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:5707000-5713200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr7:5707000-5713400	Genic enhancers	Fetal Muscle Leg	muscle
31	chr7:5707400-5713200	Strong transcription	Dnd41	blood
32	chr7:5707600-5711400	Weak transcription	Left Ventricle	heart
33	chr7:5707600-5716200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:5707600-5717200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:5707600-5717200	Weak transcription	A549	lung
36	chr7:5707600-5717400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:5707600-5717600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:5707600-5719000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:5707600-5721000	Weak transcription	Stomach Mucosa	stomach
40	chr7:5707800-5711600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:5707800-5712600	Weak transcription	Right Ventricle	heart
42	chr7:5707800-5716200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:5707800-5716400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr7:5707800-5716400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:5707800-5718000	Weak transcription	K562	blood
46	chr7:5708000-5712600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:5708400-5712200	Weak transcription	Spleen	Spleen
48	chr7:5708400-5712600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:5708400-5716200	Weak transcription	HUVEC	blood vessel
50	chr7:5708400-5717200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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