Variant report

Variant	rs10753694
Chromosome Location	chr1:165818621-165818622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165812134..165815476-chr1:165816977..165818639,3	K562	blood:
2	chr1:165795645..165798284-chr1:165816849..165821681,5	MCF-7	breast:
3	chr1:165806807..165812397-chr1:165814507..165819170,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10737519	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10800162	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10918291	0.87[ASN][1000 genomes]
rs10918294	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10918295	0.83[AFR][1000 genomes]
rs11590711	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1934275	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2185268	0.95[ASN][1000 genomes]
rs34800847	0.95[ASN][1000 genomes]
rs4483381	0.87[ASN][1000 genomes]
rs4535982	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4548416	0.93[ASN][1000 genomes]
rs4657481	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6426941	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6677965	0.93[ASN][1000 genomes]
rs6678380	0.93[ASN][1000 genomes]
rs6682894	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6684773	0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6686237	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6690966	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6702462	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7517175	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7539793	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
3	nsv548097	chr1:165797966-165825166	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
4	esv2755529	chr1:165813862-165858354	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 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	chr1:165812200-165820200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:165812200-165820200	Weak transcription	Spleen	Spleen
3	chr1:165812200-165823200	Weak transcription	Aorta	Aorta
4	chr1:165812200-165823200	Weak transcription	Fetal Stomach	stomach
5	chr1:165812200-165823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:165812400-165820200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:165812400-165820200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:165812400-165820200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:165812400-165820200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:165812400-165820200	Weak transcription	HSMMtube	muscle
11	chr1:165812400-165820400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:165812400-165820400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:165812400-165821800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:165812400-165822200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:165812400-165823200	Weak transcription	Left Ventricle	heart
16	chr1:165812400-165823200	Weak transcription	Right Ventricle	heart
17	chr1:165812400-165823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:165812600-165820200	Weak transcription	Fetal Intestine Small	intestine
19	chr1:165812600-165820400	Weak transcription	Fetal Heart	heart
20	chr1:165812600-165821800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:165812800-165820200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:165812800-165820200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:165812800-165820200	Weak transcription	NHEK	skin
24	chr1:165812800-165820200	Weak transcription	Osteobl	bone
25	chr1:165813000-165820200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:165813000-165820200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:165813000-165820200	Weak transcription	NH-A	brain
28	chr1:165813000-165820200	Weak transcription	NHDF-Ad	bronchial
29	chr1:165813000-165821800	Weak transcription	NHLF	lung
30	chr1:165813000-165823200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:165813800-165820200	Weak transcription	Psoas Muscle	Psoas
32	chr1:165813800-165821800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:165814000-165819400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:165814000-165820200	Weak transcription	HSMM	muscle
35	chr1:165814000-165822000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:165814000-165823200	Weak transcription	Small Intestine	intestine
37	chr1:165814200-165820200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:165814200-165820400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:165814400-165821800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:165814600-165820200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:165814600-165820400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:165815400-165820200	Weak transcription	Pancreas	Pancrea
43	chr1:165815600-165819400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:165816200-165820200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:165816200-165825000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:165817400-165820200	Weak transcription	K562	blood
47	chr1:165817600-165818800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:165817600-165823800	Enhancers	Fetal Thymus	thymus
49	chr1:165818000-165819000	Enhancers	HepG2	liver
50	chr1:165818000-165820200	Enhancers	Monocytes-CD14+_RO01746	blood

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