Variant report

Variant	rs55819885
Chromosome Location	chr7:17845697-17845698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:17844492..17846186-chr7:17870318..17872913,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12539189	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17138254	0.85[ASN][1000 genomes]
rs55658418	0.88[ASN][1000 genomes]
rs56391843	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58458725	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6964565	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73073356	0.83[ASN][1000 genomes]
rs73079312	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73079341	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869352	chr7:17237983-17932878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1021289	chr7:17254117-17873816	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv538754	chr7:17254117-17873816	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv534309	chr7:17254118-17932878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv887804	chr7:17571140-17885468	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
9	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
10	esv1802979	chr7:17816528-17908546	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17812400-17846200	Weak transcription	Fetal Stomach	stomach
2	chr7:17812400-17852200	Weak transcription	Esophagus	oesophagus
3	chr7:17812600-17887600	Weak transcription	Gastric	stomach
4	chr7:17813600-17879200	Weak transcription	HSMMtube	muscle
5	chr7:17817400-17887600	Weak transcription	Pancreas	Pancrea
6	chr7:17821800-17847000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:17822000-17846200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:17822000-17852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:17823000-17846200	Weak transcription	Fetal Intestine Small	intestine
10	chr7:17823200-17854400	Weak transcription	Lung	lung
11	chr7:17823600-17887600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:17824800-17861800	Weak transcription	Fetal Heart	heart
13	chr7:17825800-17887600	Weak transcription	Colonic Mucosa	Colon
14	chr7:17826000-17847000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:17826400-17846400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:17826400-17852400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:17826400-17853200	Weak transcription	Aorta	Aorta
18	chr7:17826400-17864000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:17827400-17877600	Weak transcription	Small Intestine	intestine
20	chr7:17828800-17847800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:17832000-17846400	Weak transcription	K562	blood
22	chr7:17832000-17849000	Weak transcription	Fetal Brain Female	brain
23	chr7:17832000-17862600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:17832000-17880600	Weak transcription	GM12878-XiMat	blood
25	chr7:17832200-17846200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:17832400-17846200	Weak transcription	Spleen	Spleen
27	chr7:17832400-17846400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:17832600-17846200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:17834000-17846200	Weak transcription	Thymus	Thymus
30	chr7:17834000-17852400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:17834000-17853000	Weak transcription	Hela-S3	cervix
32	chr7:17834000-17887800	Weak transcription	Right Ventricle	heart
33	chr7:17834200-17846400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:17834200-17846400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:17834200-17879400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:17834400-17852200	Weak transcription	Brain Germinal Matrix	brain
37	chr7:17834800-17888800	Weak transcription	Brain Substantia Nigra	brain
38	chr7:17837000-17846400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:17837600-17846200	Weak transcription	Ovary	ovary
40	chr7:17837600-17846800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:17837800-17846600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:17837800-17852000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:17837800-17855400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:17838000-17852200	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:17838600-17846200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:17838600-17846400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:17838600-17846400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:17838800-17887600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:17839000-17847000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr7:17839000-17932600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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