Variant report

Variant	rs7116719
Chromosome Location	chr11:85963147-85963148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85961055..85963949-chr11:85977588..85979820,2	MCF-7	breast:
2	chr11:85957358..85959718-chr11:85962458..85964568,2	K562	blood:
3	chr11:85961896..85964300-chr11:85972097..85973858,2	K562	blood:
4	chr11:85953211..85960614-chr11:85961214..85967523,10	K562	blood:
5	chr11:85953211..85956720-chr11:85962285..85965170,5	K562	blood:
6	chr11:85954444..85957790-chr11:85960392..85964072,7	MCF-7	breast:
7	chr11:85960754..85963363-chr12:2217354..2219874,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11822620	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.94[ASN][1000 genomes]
rs11822899	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12417008	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12422031	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17210182	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17210189	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17210259	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17210343	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.97[ASN][1000 genomes]
rs17210350	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.97[ASN][1000 genomes]
rs17210546	1.00[EUR][1000 genomes]
rs17817610	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17817659	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17817701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17817719	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2036187	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2374703	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2374704	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34602206	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3920052	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4474462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59478404	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61039312	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7104068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7105530	1.00[EUR][1000 genomes]
rs7114903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7115094	1.00[EUR][1000 genomes]
rs7116376	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939108	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7944685	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][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	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85957000-85963800	Weak transcription	Spleen	Spleen
2	chr11:85957200-85963800	Weak transcription	Lung	lung
3	chr11:85957200-85972400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:85957200-85972400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:85957200-85972400	Weak transcription	Esophagus	oesophagus
6	chr11:85957200-85995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:85957400-85967600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:85957400-85985600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:85957400-86008000	Weak transcription	Psoas Muscle	Psoas
10	chr11:85957800-85967800	Weak transcription	Thymus	Thymus
11	chr11:85957800-85968000	Weak transcription	HSMMtube	muscle
12	chr11:85957800-85968600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:85957800-85968600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:85957800-85997200	Weak transcription	Colonic Mucosa	Colon
15	chr11:85957800-85999800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:85958000-85963400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:85958400-85963800	Weak transcription	Fetal Intestine Small	intestine
18	chr11:85958400-85963800	Weak transcription	Fetal Stomach	stomach
19	chr11:85958400-85966200	Weak transcription	NH-A	brain
20	chr11:85958400-85966400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:85958400-85972400	Weak transcription	Aorta	Aorta
22	chr11:85958400-85997200	Weak transcription	Brain Germinal Matrix	brain
23	chr11:85958800-85967000	Weak transcription	HSMM	muscle
24	chr11:85959200-85963800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:85959200-85963800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:85959200-85967000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:85959200-85967000	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:85959200-85967800	Weak transcription	Fetal Intestine Large	intestine
29	chr11:85959200-85974000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr11:85959200-85988000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:85959200-85988600	Weak transcription	Brain Angular Gyrus	brain
32	chr11:85959200-85997600	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:85959400-85967400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:85959400-85995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:85960000-85963800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:85960000-85968000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:85960000-85970800	Weak transcription	Fetal Brain Female	brain
38	chr11:85960000-85972400	Weak transcription	Pancreas	Pancrea
39	chr11:85960200-85966800	Weak transcription	Liver	Liver
40	chr11:85960200-85967000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:85960200-85967200	Weak transcription	HepG2	liver
42	chr11:85960200-85967400	Weak transcription	Left Ventricle	heart
43	chr11:85960200-85967400	Weak transcription	HMEC	breast
44	chr11:85960200-85968000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:85960200-85968000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:85960200-85972800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:85960200-85985600	Weak transcription	Gastric	stomach
48	chr11:85960600-85966400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:85960600-85967400	Weak transcription	HUVEC	blood vessel
50	chr11:85960600-85972200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links