Variant report

Variant	rs10911606
Chromosome Location	chr1:184517062-184517063
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184514885..184517568-chr1:184933946..184935678,2	K562	blood:
2	chr1:184515933..184517839-chr1:184525996..184528809,2	K562	blood:
3	chr1:184514258..184517893-chr1:184518659..184523395,6	MCF-7	breast:
4	chr1:184451991..184452808-chr1:184516582..184517433,3	MCF-7	breast:
5	chr1:184451750..184452479-chr1:184516804..184517642,3	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1007224	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10797972	0.81[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.82[TSI][hapmap]
rs10797977	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12125349	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12127674	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1339563	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1339564	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1339565	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1339566	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1339567	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1416752	0.92[CEU][hapmap]
rs1569842	0.87[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap]
rs1884200	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[EUR][1000 genomes]
rs1969684	0.83[ASN][1000 genomes]
rs2001270	0.81[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap]
rs2038307	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2038308	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2144294	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2180073	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2180077	0.87[CHB][hapmap]
rs2890014	0.81[EUR][1000 genomes]
rs2890015	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4650667	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4651208	0.82[CHB][hapmap]
rs4651210	0.92[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs4651211	0.88[EUR][1000 genomes]
rs4651213	0.89[CEU][hapmap]
rs4651217	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4651218	0.81[EUR][1000 genomes]
rs4651219	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6666704	0.84[EUR][1000 genomes]
rs7517518	0.84[EUR][1000 genomes]
rs7533466	0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7544240	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9970984	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9970990	0.93[AMR][1000 genomes];0.94[EUR][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184502400-184520200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:184502600-184527200	Weak transcription	Fetal Brain Female	brain
3	chr1:184503400-184520400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:184504200-184522600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:184505800-184518200	Weak transcription	Gastric	stomach
6	chr1:184505800-184524000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:184505800-184530800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:184505800-184531600	Weak transcription	Fetal Stomach	stomach
9	chr1:184506200-184520600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:184511400-184517200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:184511400-184530400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:184511800-184524600	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:184512000-184520200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:184512200-184524200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:184512200-184524400	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:184512200-184530200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:184512200-184543600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:184512400-184530200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:184514400-184543800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:184515000-184520600	Weak transcription	Psoas Muscle	Psoas
21	chr1:184515200-184517200	Enhancers	NHEK	skin
22	chr1:184515200-184520200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:184515200-184524000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:184515200-184531200	Weak transcription	NHLF	lung
25	chr1:184515600-184517400	Enhancers	Right Atrium	heart
26	chr1:184515800-184517200	Enhancers	Lung	lung
27	chr1:184516000-184517400	Enhancers	Right Ventricle	heart
28	chr1:184516000-184517600	Enhancers	Esophagus	oesophagus
29	chr1:184516000-184524200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:184516200-184517600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:184516200-184524400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:184516400-184517400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:184516400-184517400	Enhancers	Fetal Brain Male	brain
34	chr1:184516400-184522800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:184516400-184523000	Weak transcription	HMEC	breast
36	chr1:184516400-184524400	Weak transcription	Adipose Nuclei	Adipose
37	chr1:184516400-184524600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:184516400-184529000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:184516600-184517800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:184516800-184517400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:184516800-184520400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:184516800-184520600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:184517000-184517200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:184517000-184517200	Enhancers	Left Ventricle	heart
45	chr1:184517000-184517600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:184517000-184524200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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