Variant report

Variant	rs72950456
Chromosome Location	chr11:85774862-85774863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85774012..85776185-chr11:85778129..85779860,2	MCF-7	breast:
2	chr11:85773042..85775318-chr11:85782824..85785081,2	MCF-7	breast:
3	chr11:85768733..85771194-chr11:85773077..85775713,3	MCF-7	breast:
4	chr11:85755134..85758081-chr11:85773891..85777241,3	K562	blood:
5	chr11:85773252..85777138-chr11:85860597..85863727,3	K562	blood:
6	chr11:85774766..85777240-chr11:85903999..85905671,2	K562	blood:

Variant related genes	Relation type
ENSG00000254699	Chromatin interaction
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10128700	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10501603	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10501605	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10501607	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10898431	0.83[EUR][1000 genomes]
rs11234489	0.85[EUR][1000 genomes]
rs11234492	0.86[EUR][1000 genomes]
rs11234496	0.88[EUR][1000 genomes]
rs11234502	0.89[EUR][1000 genomes]
rs11234512	0.88[EUR][1000 genomes]
rs11234513	0.88[EUR][1000 genomes]
rs11234517	0.89[EUR][1000 genomes]
rs11234544	0.87[EUR][1000 genomes]
rs11234548	0.87[EUR][1000 genomes]
rs12270433	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12271390	0.87[EUR][1000 genomes]
rs12276435	0.87[EUR][1000 genomes]
rs12277986	0.87[EUR][1000 genomes]
rs12278260	0.85[EUR][1000 genomes]
rs12279956	0.89[EUR][1000 genomes]
rs12281494	0.94[EUR][1000 genomes]
rs12281958	0.88[EUR][1000 genomes]
rs12282655	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284629	0.87[EUR][1000 genomes]
rs12287170	0.89[EUR][1000 genomes]
rs12292364	0.85[EUR][1000 genomes]
rs12294130	0.85[EUR][1000 genomes]
rs1596739	0.83[EUR][1000 genomes]
rs17159904	0.88[EUR][1000 genomes]
rs17744938	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17745105	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17745153	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17745236	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17745248	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17745273	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17745474	0.85[EUR][1000 genomes]
rs17817582	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17817588	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17817690	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17817859	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17817883	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17817919	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17817956	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2001241	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2084077	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41381550	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4943934	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4943936	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4943937	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4944550	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4944551	0.82[EUR][1000 genomes]
rs4944552	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4944553	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4944554	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4944555	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4944556	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55697624	0.85[EUR][1000 genomes]
rs55791429	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55815523	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56026701	0.91[EUR][1000 genomes]
rs56187740	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56207019	0.86[EUR][1000 genomes]
rs57125313	0.85[EUR][1000 genomes]
rs58937798	0.91[EUR][1000 genomes]
rs7128598	0.86[EUR][1000 genomes]
rs72949419	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72949443	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72950443	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72950453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72951266	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72951268	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72959177	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72959197	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72959906	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72959929	0.87[EUR][1000 genomes]
rs72961110	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72961111	0.83[EUR][1000 genomes]
rs72963077	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72963086	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72963092	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72965157	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72965166	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7943152	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv468774	chr11:85688209-85775059	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv555644	chr11:85688209-85775059	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85752800-85776400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:85756000-85776000	Weak transcription	Esophagus	oesophagus
3	chr11:85756600-85775400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:85764000-85775000	Weak transcription	Fetal Brain Female	brain
5	chr11:85764200-85775200	Weak transcription	Fetal Intestine Small	intestine
6	chr11:85764400-85777000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:85765600-85775400	Weak transcription	Placenta	Placenta
8	chr11:85765600-85777800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:85765800-85775200	Weak transcription	Brain Germinal Matrix	brain
10	chr11:85766000-85775400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:85768800-85776600	Enhancers	Liver	Liver
12	chr11:85769400-85776400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:85769400-85777200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr11:85770400-85776600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:85770600-85775200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr11:85770800-85776600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:85770800-85776600	Weak transcription	Stomach Mucosa	stomach
18	chr11:85770800-85776800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:85770800-85777600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:85770800-85778200	Weak transcription	Gastric	stomach
21	chr11:85771000-85775400	Weak transcription	Small Intestine	intestine
22	chr11:85771200-85776600	Enhancers	HepG2	liver
23	chr11:85771600-85775000	Enhancers	Osteobl	bone
24	chr11:85771800-85775000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:85771800-85775400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:85771800-85775400	Weak transcription	Ovary	ovary
27	chr11:85772000-85775000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:85772000-85775200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:85772200-85775600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:85772200-85777400	Weak transcription	Colonic Mucosa	Colon
31	chr11:85772400-85775400	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:85772400-85775400	Weak transcription	Fetal Thymus	thymus
33	chr11:85772400-85775400	Active TSS	Right Atrium	heart
34	chr11:85772400-85776600	Weak transcription	Aorta	Aorta
35	chr11:85772600-85776600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:85772800-85775200	Enhancers	Rectal Smooth Muscle	rectum
37	chr11:85772800-85775400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:85772800-85775400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:85772800-85776600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:85772800-85777200	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:85773000-85775600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:85773200-85775200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:85773200-85775400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:85773200-85776000	Enhancers	Brain Anterior Caudate	brain
45	chr11:85773200-85776600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr11:85773200-85776600	Active TSS	K562	blood
47	chr11:85773200-85778200	Weak transcription	Pancreas	Pancrea
48	chr11:85773400-85775000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:85773400-85777600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:85773600-85775400	Enhancers	Primary neutrophils fromperipheralblood	blood

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