Variant report

Variant	rs10158710
Chromosome Location	chr1:184398346-184398347
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184392135..184393855-chr1:184396238..184398930,2	K562	blood:
2	chr1:184354793..184356958-chr1:184398086..184399806,2	MCF-7	breast:
3	chr1:184397306..184399286-chr1:184405791..184407775,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116667	Chromatin interaction
ENSG00000271387	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10157833	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10489721	1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs10489722	1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs10752935	0.93[CHB][hapmap]
rs10797966	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10911593	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs11802306	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11805001	1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs11810399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11811039	0.84[ASN][1000 genomes]
rs12048492	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs12057850	0.89[ASN][1000 genomes]
rs12058294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12063210	0.83[ASN][1000 genomes]
rs12093839	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1535135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16823149	1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs1969686	0.89[ASN][1000 genomes]
rs2207522	0.93[ASN][1000 genomes]
rs3916684	0.84[ASN][1000 genomes]
rs3930803	0.89[ASN][1000 genomes]
rs4233119	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs4518858	0.93[CHB][hapmap]
rs57024489	0.83[ASN][1000 genomes]
rs57790643	0.83[ASN][1000 genomes]
rs58462114	0.89[ASN][1000 genomes]
rs59369289	0.83[ASN][1000 genomes]
rs61823506	0.89[ASN][1000 genomes]
rs61823538	0.89[ASN][1000 genomes]
rs61823539	0.89[ASN][1000 genomes]
rs61823542	0.89[ASN][1000 genomes]
rs61823543	0.96[ASN][1000 genomes]
rs61823546	0.83[ASN][1000 genomes]
rs6424948	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs6424949	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs6656089	0.83[ASN][1000 genomes]
rs6657105	0.87[ASN][1000 genomes]
rs6657254	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6666696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6696161	0.93[CHB][hapmap]
rs72735678	0.89[ASN][1000 genomes]
rs7367466	0.83[CEU][hapmap]
rs7522628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7537725	0.93[ASN][1000 genomes]
rs7540361	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184378200-184402400	Weak transcription	Fetal Lung	lung
2	chr1:184383800-184412400	Weak transcription	Fetal Stomach	stomach
3	chr1:184387000-184400200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:184387200-184403400	Weak transcription	Aorta	Aorta
5	chr1:184388000-184400000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:184389200-184399800	Weak transcription	A549	lung
7	chr1:184389400-184399400	Weak transcription	NHLF	lung
8	chr1:184390600-184401600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:184390600-184422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:184392200-184408200	Weak transcription	Esophagus	oesophagus
11	chr1:184394600-184398600	Weak transcription	HMEC	breast
12	chr1:184395000-184402200	Weak transcription	Pancreas	Pancrea
13	chr1:184395000-184405600	Weak transcription	Fetal Intestine Small	intestine
14	chr1:184395200-184405000	Weak transcription	Fetal Intestine Large	intestine
15	chr1:184395400-184408000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:184395800-184405600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:184396000-184412800	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:184396200-184402400	Weak transcription	Stomach Mucosa	stomach
19	chr1:184396200-184412800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:184396200-184418800	Weak transcription	NHEK	skin
21	chr1:184396200-184419000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:184396400-184402200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
24	chr1:184396800-184398800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:184396800-184404800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:184397000-184402200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:184397000-184402200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:184397200-184402200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:184397800-184398400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:184397800-184398400	Enhancers	Left Ventricle	heart
31	chr1:184397800-184398400	Genic enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:184397800-184398400	Enhancers	Right Ventricle	heart
33	chr1:184397800-184398400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
34	chr1:184397800-184398600	Enhancers	Right Atrium	heart
35	chr1:184398000-184398400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr1:184398000-184398400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:184398000-184398400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr1:184398000-184398600	Enhancers	Fetal Heart	heart
39	chr1:184398000-184398800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:184398200-184398400	Weak transcription	Small Intestine	intestine
41	chr1:184398200-184398600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr1:184398200-184402200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:184398200-184402200	Weak transcription	Psoas Muscle	Psoas
44	chr1:184398200-184402800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:184398200-184404600	Weak transcription	Lung	lung

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