Variant report

Variant	rs7700162
Chromosome Location	chr4:148783128-148783129
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148603830..148606131-chr4:148782942..148784655,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164169	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10013038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036441	1.00[EUR][1000 genomes]
rs10519918	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11723235	1.00[EUR][1000 genomes]
rs11725005	1.00[EUR][1000 genomes]
rs13147854	1.00[EUR][1000 genomes]
rs2118034	1.00[EUR][1000 genomes]
rs4240340	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240342	1.00[EUR][1000 genomes]
rs4835102	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4835104	1.00[EUR][1000 genomes]
rs4835105	1.00[EUR][1000 genomes]
rs4835462	1.00[EUR][1000 genomes]
rs4835465	1.00[EUR][1000 genomes]
rs4835467	1.00[EUR][1000 genomes]
rs6535564	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6535566	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6852320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6853610	1.00[EUR][1000 genomes]
rs72955571	1.00[EUR][1000 genomes]
rs7435763	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7654818	1.00[EUR][1000 genomes]
rs7661267	1.00[EUR][1000 genomes]
rs7687859	1.00[EUR][1000 genomes]
rs893030	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148763200-148796200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:148764400-148786000	Weak transcription	NH-A	brain
3	chr4:148764400-148787000	Weak transcription	NHEK	skin
4	chr4:148764600-148787800	Weak transcription	HMEC	breast
5	chr4:148766400-148787600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:148766600-148796200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:148767600-148796400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:148768400-148815600	Weak transcription	Primary T cells from cord blood	blood
9	chr4:148770400-148796200	Weak transcription	Fetal Kidney	kidney
10	chr4:148772000-148806000	Weak transcription	Fetal Thymus	thymus
11	chr4:148772400-148785800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:148776400-148787200	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:148777000-148796200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:148777000-148823000	Weak transcription	Small Intestine	intestine
15	chr4:148777200-148784400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:148777400-148796600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:148777800-148796200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:148778600-148787400	Weak transcription	Hela-S3	cervix
19	chr4:148779400-148783200	Weak transcription	Placenta	Placenta
20	chr4:148779400-148783200	Strong transcription	GM12878-XiMat	blood
21	chr4:148779400-148783400	Strong transcription	HSMM	muscle
22	chr4:148779600-148783400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:148779800-148793800	Weak transcription	Fetal Lung	lung
24	chr4:148780400-148784400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:148781200-148784200	Weak transcription	Osteobl	bone
26	chr4:148781600-148783400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:148781600-148786400	Enhancers	Adipose Nuclei	Adipose
28	chr4:148782000-148783200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:148782000-148783200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:148782000-148783200	Strong transcription	Gastric	stomach
31	chr4:148782000-148783200	Genic enhancers	Stomach Smooth Muscle	stomach
32	chr4:148782000-148783800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:148782000-148784000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr4:148782000-148799400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:148782200-148783200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:148782200-148783200	ZNF genes & repeats	Ovary	ovary
37	chr4:148782200-148783400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:148782200-148783400	Strong transcription	NHLF	lung
39	chr4:148782200-148783600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:148782200-148783800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:148782200-148783800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:148782200-148783800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:148782200-148783800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
44	chr4:148782200-148783800	ZNF genes & repeats	Fetal Intestine Large	intestine
45	chr4:148782200-148783800	Genic enhancers	Fetal Muscle Leg	muscle
46	chr4:148782200-148783800	Strong transcription	Fetal Stomach	stomach
47	chr4:148782200-148783800	Enhancers	Right Atrium	heart
48	chr4:148782400-148783200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:148782400-148783400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:148782400-148783400	Strong transcription	Esophagus	oesophagus

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