Variant report

Variant	rs6466070
Chromosome Location	chr7:105174384-105174385
allele	A/G
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	chr7:105171919..105174630-chr7:105210042..105212382,2	K562	blood:
2	chr7:104652025..104655481-chr7:105171171..105174883,4	K562	blood:
3	chr7:105094953..105097499-chr7:105172737..105175685,2	K562	blood:
4	chr7:105173908..105177855-chr7:105188710..105192273,6	K562	blood:
5	chr7:104652025..104655487-chr7:105171171..105176319,6	K562	blood:
6	chr7:105171534..105175507-chr7:105231963..105234533,3	K562	blood:
7	chr7:105158727..105165017-chr7:105166972..105176993,56	K562	blood:
8	chr7:105172788..105175282-chr7:105215933..105219450,4	K562	blood:
9	chr7:104649355..104651089-chr7:105173782..105176536,2	K562	blood:
10	chr7:105171895..105174076-chr7:105174094..105176454,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135249	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000091127	Chromatin interaction
ENSG00000185055	Chromatin interaction
ENSG00000272604	Chromatin interaction
ENSG00000239569	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10274571	0.87[ASN][1000 genomes]
rs11766225	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12672247	0.86[ASN][1000 genomes]
rs4613913	0.80[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4730092	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6942426	0.85[ASN][1000 genomes]
rs7384067	0.80[ASN][1000 genomes]
rs9692503	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers 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	30 gene(s)	inside rSNPs	diseases
12	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv888935	chr7:105110990-105193051	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
14	nsv888936	chr7:105119308-105193051	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr7:105173200-105174600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:105173400-105174600	Enhancers	Small Intestine	intestine
3	chr7:105173400-105175800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:105173400-105176000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:105173400-105177600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:105173400-105177600	Weak transcription	Left Ventricle	heart
7	chr7:105173400-105177800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:105173400-105190200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:105173400-105208200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:105173400-105210200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:105173600-105174400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:105173600-105174400	Enhancers	Thymus	Thymus
13	chr7:105173600-105174600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:105173600-105174600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:105173600-105174600	Enhancers	Brain Cingulate Gyrus	brain
16	chr7:105173600-105174600	Enhancers	Brain Substantia Nigra	brain
17	chr7:105173600-105174600	Enhancers	Stomach Mucosa	stomach
18	chr7:105173600-105174600	Flanking Active TSS	GM12878-XiMat	blood
19	chr7:105173600-105174600	Transcr. at gene 5' and 3'	K562	blood
20	chr7:105173600-105174800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr7:105173600-105174800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr7:105173600-105174800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr7:105173600-105175000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr7:105173600-105175400	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr7:105173600-105177600	Weak transcription	Aorta	Aorta
26	chr7:105173800-105174400	Enhancers	Liver	Liver
27	chr7:105173800-105174400	Enhancers	Brain Angular Gyrus	brain
28	chr7:105173800-105174400	Enhancers	Fetal Intestine Small	intestine
29	chr7:105173800-105174400	Transcr. at gene 5' and 3'	Hela-S3	cervix
30	chr7:105173800-105174400	Transcr. at gene 5' and 3'	HSMM	muscle
31	chr7:105173800-105174400	Genic enhancers	NH-A	brain
32	chr7:105173800-105174600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:105173800-105174600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr7:105173800-105174600	Enhancers	Brain Hippocampus Middle	brain
35	chr7:105173800-105174600	Genic enhancers	Psoas Muscle	Psoas
36	chr7:105173800-105174800	Enhancers	Primary hematopoietic stem cells	blood
37	chr7:105173800-105174800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:105173800-105174800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:105173800-105174800	Enhancers	Pancreas	Pancrea
40	chr7:105173800-105175000	Genic enhancers	Primary T cells from cord blood	blood
41	chr7:105173800-105175200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:105173800-105176000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:105173800-105177600	Weak transcription	Lung	lung
44	chr7:105173800-105177600	Weak transcription	HSMMtube	muscle
45	chr7:105173800-105177800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:105173800-105177800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:105173800-105178000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:105173800-105178400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:105173800-105179000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:105173800-105183200	Weak transcription	Fetal Brain Male	brain

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