Variant report

Variant	rs58500312
Chromosome Location	chr11:68138161-68138162
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:68138033..68141463-chr11:68144813..68147570,3	K562	blood:
2	chr11:68135719..68138627-chr11:68149871..68152730,2	MCF-7	breast:
3	chr11:68137895..68140646-chr11:68146197..68148192,3	MCF-7	breast:
4	chr11:68108931..68115142-chr11:68135401..68140500,11	MCF-7	breast:
5	chr11:68108472..68110362-chr11:68136647..68138790,2	MCF-7	breast:
6	chr11:68130520..68132708-chr11:68137513..68139968,2	MCF-7	breast:
7	chr11:68080308..68081968-chr11:68136465..68139022,2	MCF-7	breast:
8	chr11:68134335..68136167-chr11:68137890..68139982,2	K562	blood:
9	chr11:68136064..68139002-chr11:68147497..68150205,3	MCF-7	breast:

No data

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11574424	0.96[AFR][1000 genomes]
rs17149027	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17149031	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17149041	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17149042	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159533	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2089915	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58373012	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58779840	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59682172	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60632461	1.00[EUR][1000 genomes]
rs61101778	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61132569	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61539720	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7101866	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7102311	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7111735	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7112824	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122741	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73515038	1.00[EUR][1000 genomes]
rs73515041	1.00[EUR][1000 genomes]
rs7939653	1.00[EUR][1000 genomes]
rs7939672	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940269	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7947068	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1039671	chr11:68120571-68206630	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS 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	16 gene(s)	inside rSNPs	diseases
11	nsv897861	chr11:68129606-68196830	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68121600-68148200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:68121800-68156400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:68122200-68139800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:68122600-68138200	Weak transcription	HUVEC	blood vessel
5	chr11:68123200-68139600	Weak transcription	Brain Substantia Nigra	brain
6	chr11:68124800-68146600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:68126800-68138200	Weak transcription	HSMM	muscle
8	chr11:68126800-68138200	Weak transcription	NH-A	brain
9	chr11:68127000-68140800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:68128000-68140800	Weak transcription	Fetal Brain Male	brain
11	chr11:68128200-68140800	Weak transcription	Osteobl	bone
12	chr11:68128200-68153800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:68129600-68139400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:68129800-68153600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:68131800-68143400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:68132000-68140400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:68132400-68138800	Strong transcription	Fetal Intestine Large	intestine
18	chr11:68132600-68138200	Strong transcription	Fetal Intestine Small	intestine
19	chr11:68133400-68138800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:68134400-68140800	Weak transcription	Small Intestine	intestine
21	chr11:68134600-68139800	Weak transcription	Ovary	ovary
22	chr11:68135000-68138400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:68135000-68139000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:68135000-68141000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:68135200-68141000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:68135200-68147600	Weak transcription	Primary T cells from cord blood	blood
27	chr11:68135200-68153400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:68135200-68153600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:68135400-68138200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:68135800-68139000	Weak transcription	Gastric	stomach
31	chr11:68136000-68138800	Weak transcription	HMEC	breast
32	chr11:68136000-68139000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:68136000-68139200	Weak transcription	Brain Germinal Matrix	brain
34	chr11:68136000-68140400	Genic enhancers	Fetal Muscle Leg	muscle
35	chr11:68136000-68142000	Weak transcription	NHEK	skin
36	chr11:68136200-68138600	Enhancers	Primary B cells from peripheral blood	blood
37	chr11:68136200-68139400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:68136200-68139800	Weak transcription	Thymus	Thymus
39	chr11:68136200-68153400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:68136400-68140000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr11:68136600-68138400	Enhancers	Primary B cells from cord blood	blood
42	chr11:68136600-68138400	Enhancers	Right Atrium	heart
43	chr11:68136600-68140800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr11:68136600-68143600	Enhancers	Placenta	Placenta
45	chr11:68136600-68145600	Enhancers	Left Ventricle	heart
46	chr11:68136800-68141200	Enhancers	Aorta	Aorta
47	chr11:68136800-68141400	Enhancers	Right Ventricle	heart
48	chr11:68136800-68142000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:68136800-68143400	Enhancers	Fetal Heart	heart
50	chr11:68136800-68152800	Weak transcription	Dnd41	blood

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