Variant report

Variant	rs60992548
Chromosome Location	chr10:49652834-49652835
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49652288..49653412-chr10:49712926..49713686,3	K562	blood:
2	chr10:49624602..49625302-chr10:49652334..49653265,2	MCF-7	breast:
3	chr10:49570787..49573176-chr10:49651060..49654395,3	MCF-7	breast:
4	chr10:49571283..49571906-chr10:49652430..49653469,3	MCF-7	breast:
5	chr10:49652128..49653347-chr10:49713187..49714230,4	MCF-7	breast:
6	chr10:49652115..49653152-chr10:49714314..49715226,3	MCF-7	breast:
7	chr10:49652071..49653009-chr10:49714464..49715277,3	K562	blood:
8	chr10:49652826..49653738-chr10:49713419..49714145,4	MCF-7	breast:
9	chr10:49652093..49653350-chr10:49863868..49864855,3	MCF-7	breast:
10	chr10:49571231..49572227-chr10:49652604..49653258,3	MCF-7	breast:
11	chr10:49652137..49653652-chr10:49714272..49715285,12	MCF-7	breast:
12	chr10:49652272..49653208-chr10:49717878..49718849,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP22-2	chr10:49651879-49653859	NONHSAT013269

No data

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs17010208	0.92[EUR][1000 genomes]
rs17010407	1.00[EUR][1000 genomes]
rs17010430	1.00[EUR][1000 genomes]
rs17010447	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17010454	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010496	0.84[EUR][1000 genomes]
rs17697972	1.00[EUR][1000 genomes]
rs1867586	0.92[EUR][1000 genomes]
rs3730160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3855904	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57508520	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58676018	1.00[EUR][1000 genomes]
rs61838668	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61838669	0.96[EUR][1000 genomes]
rs61838672	1.00[EUR][1000 genomes]
rs61838673	1.00[EUR][1000 genomes]
rs61838677	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61838697	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61838698	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838700	1.00[EUR][1000 genomes]
rs61838701	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838703	0.96[EUR][1000 genomes]
rs61838704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838707	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61838708	0.88[EUR][1000 genomes]
rs61838722	0.84[EUR][1000 genomes]
rs61838723	0.84[EUR][1000 genomes]
rs61838724	0.80[EUR][1000 genomes]
rs61838726	0.84[EUR][1000 genomes]
rs61838728	0.84[EUR][1000 genomes]
rs61838730	0.84[EUR][1000 genomes]
rs61838731	0.84[EUR][1000 genomes]
rs61838735	0.84[EUR][1000 genomes]
rs61840548	0.92[EUR][1000 genomes]
rs61840549	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs61840550	0.92[EUR][1000 genomes]
rs61840556	0.88[EUR][1000 genomes]
rs61840558	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7089077	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1039508	chr10:49595718-49654403	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49612000-49664200	Weak transcription	Thymus	Thymus
2	chr10:49612800-49660200	Weak transcription	Aorta	Aorta
3	chr10:49619000-49664200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:49620800-49658600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:49621200-49657400	Weak transcription	Brain Hippocampus Middle	brain
6	chr10:49621400-49658600	Weak transcription	Brain Substantia Nigra	brain
7	chr10:49621400-49664400	Weak transcription	Brain Angular Gyrus	brain
8	chr10:49624600-49664800	Weak transcription	Gastric	stomach
9	chr10:49625800-49654400	Weak transcription	A549	lung
10	chr10:49626600-49664400	Weak transcription	Spleen	Spleen
11	chr10:49639000-49653000	Weak transcription	Fetal Stomach	stomach
12	chr10:49639600-49657800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr10:49644200-49653000	Weak transcription	Brain Germinal Matrix	brain
14	chr10:49644200-49655000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:49644200-49664400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr10:49644600-49656600	Weak transcription	HUVEC	blood vessel
17	chr10:49644600-49660400	Weak transcription	Brain Anterior Caudate	brain
18	chr10:49644800-49654800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:49646000-49653000	Weak transcription	Esophagus	oesophagus
20	chr10:49646000-49653200	Weak transcription	Fetal Brain Female	brain
21	chr10:49646200-49657200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr10:49646400-49653000	Weak transcription	Left Ventricle	heart
23	chr10:49646400-49653200	Weak transcription	Placenta	Placenta
24	chr10:49646600-49653800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr10:49646600-49655200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:49647400-49653200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:49647800-49653200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:49647800-49663000	Weak transcription	NHEK	skin
29	chr10:49647800-49664400	Weak transcription	Fetal Intestine Small	intestine
30	chr10:49648000-49653200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:49648000-49656600	Weak transcription	NH-A	brain
32	chr10:49648000-49664400	Weak transcription	Right Atrium	heart
33	chr10:49648600-49656600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:49648600-49657800	Weak transcription	Ovary	ovary
35	chr10:49648800-49656600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:49649000-49656800	Strong transcription	NHLF	lung
37	chr10:49649200-49656400	Strong transcription	Osteobl	bone
38	chr10:49650000-49655800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:49650400-49653800	Strong transcription	NHDF-Ad	bronchial
40	chr10:49650600-49653000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:49650600-49664000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:49650800-49653600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr10:49651200-49653600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:49651200-49656600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr10:49651800-49657200	Weak transcription	HSMMtube	muscle
46	chr10:49652000-49653000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr10:49652000-49673000	Weak transcription	HMEC	breast
48	chr10:49652200-49653200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr10:49652200-49653400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr10:49652200-49653400	Enhancers	Fetal Heart	heart

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