Variant report

Variant	rs58493447
Chromosome Location	chr10:52387584-52387585
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr10:52387110-52387625	T-47D	breast:	n/a	n/a
2	ESR1	chr10:52387165-52387634	T-47D	breast:	n/a	n/a
3	GATA3	chr10:52387102-52388125	T-47D	breast:	n/a	chr10:52387826-52387833
4	EP300	chr10:52387088-52388077	T-47D	breast:	n/a	n/a
5	ESR1	chr10:52387185-52387591	T-47D	breast:	n/a	n/a
6	ESR1	chr10:52387128-52388044	T-47D	breast:	n/a	n/a
7	FOXA1	chr10:52387174-52387586	T-47D	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52385766..52387938-chr10:52404777..52406730,2	K562	blood:
2	chr10:52359260..52360848-chr10:52387112..52388927,2	K562	blood:
3	chr10:52324162..52326524-chr10:52386788..52388541,2	K562	blood:
4	chr10:52336198..52337725-chr10:52386422..52388764,2	K562	blood:
5	chr10:52385910..52390098-chr10:52396807..52399699,3	MCF-7	breast:

No data

Variant related genes	Relation type
SGMS1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10218880	1.00[EUR][1000 genomes]
rs10218927	1.00[EUR][1000 genomes]
rs11006161	1.00[EUR][1000 genomes]
rs11006168	1.00[EUR][1000 genomes]
rs11006177	1.00[EUR][1000 genomes]
rs11006224	1.00[EUR][1000 genomes]
rs12241613	1.00[EUR][1000 genomes]
rs12243444	1.00[EUR][1000 genomes]
rs12261465	1.00[EUR][1000 genomes]
rs12262564	1.00[EUR][1000 genomes]
rs16937874	1.00[EUR][1000 genomes]
rs56808429	1.00[EUR][1000 genomes]
rs61595381	1.00[EUR][1000 genomes]
rs66936815	1.00[EUR][1000 genomes]
rs67025766	1.00[EUR][1000 genomes]
rs67114363	1.00[EUR][1000 genomes]
rs67414877	1.00[EUR][1000 genomes]
rs72803714	1.00[EUR][1000 genomes]
rs7911643	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52385400-52392400	Weak transcription	Lung	lung
2	chr10:52385600-52389200	Weak transcription	Ovary	ovary
3	chr10:52385600-52392200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:52385600-52392200	Weak transcription	Left Ventricle	heart
5	chr10:52385600-52392400	Weak transcription	Gastric	stomach
6	chr10:52385600-52393000	Weak transcription	Pancreas	Pancrea
7	chr10:52385600-52393600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:52385600-52395200	Weak transcription	Esophagus	oesophagus
9	chr10:52385800-52387600	Weak transcription	Placenta	Placenta
10	chr10:52385800-52388400	Weak transcription	Adipose Nuclei	Adipose
11	chr10:52385800-52388400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr10:52385800-52388400	Weak transcription	Right Ventricle	heart
13	chr10:52385800-52389200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr10:52385800-52389400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:52385800-52389400	Weak transcription	Brain Anterior Caudate	brain
16	chr10:52385800-52389400	Weak transcription	Brain Hippocampus Middle	brain
17	chr10:52385800-52391000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr10:52385800-52391600	Weak transcription	Brain Angular Gyrus	brain
19	chr10:52385800-52392800	Weak transcription	Aorta	Aorta
20	chr10:52385800-52394800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:52385800-52395000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr10:52385800-52396000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr10:52385800-52396800	Weak transcription	Fetal Brain Male	brain
24	chr10:52385800-52397000	Weak transcription	Psoas Muscle	Psoas
25	chr10:52385800-52397000	Weak transcription	Small Intestine	intestine
26	chr10:52386000-52388000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:52386000-52388200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr10:52386000-52388200	Weak transcription	Brain Germinal Matrix	brain
29	chr10:52386000-52388400	Weak transcription	Brain Substantia Nigra	brain
30	chr10:52386000-52388600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:52386000-52388600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr10:52386000-52389000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr10:52386000-52389200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr10:52386000-52389200	Weak transcription	GM12878-XiMat	blood
35	chr10:52386000-52389400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr10:52386000-52389400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:52386000-52389400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:52386000-52389400	Weak transcription	Fetal Muscle Leg	muscle
39	chr10:52386000-52389600	Weak transcription	Fetal Intestine Large	intestine
40	chr10:52386000-52390000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr10:52386000-52390200	Weak transcription	NHEK	skin
42	chr10:52386000-52390400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr10:52386000-52390600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr10:52386000-52391600	Weak transcription	Fetal Kidney	kidney
45	chr10:52386000-52391600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr10:52386000-52392200	Weak transcription	Fetal Stomach	stomach
47	chr10:52386000-52392200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr10:52386000-52392400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr10:52386000-52392400	Weak transcription	Fetal Intestine Small	intestine
50	chr10:52386000-52393400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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