Variant report

Variant	rs11683121
Chromosome Location	chr2:100920705-100920706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100920038..100923906-chr2:100937053..100939083,4	MCF-7	breast:
2	chr2:100912722..100916379-chr2:100917427..100921061,4	K562	blood:
3	chr2:100919515..100922139-chr2:100935944..100938623,2	K562	blood:
4	chr2:100919689..100923589-chr2:100924363..100927455,3	K562	blood:
5	chr2:100919683..100921615-chr2:100928582..100930421,2	MCF-7	breast:
6	chr2:100907987..100912107-chr2:100920120..100922978,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 158 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs10048665	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10170109	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10174145	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10180423	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10182399	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10183150	0.85[EUR][1000 genomes]
rs10186134	0.84[EUR][1000 genomes]
rs10193204	0.85[EUR][1000 genomes]
rs10194210	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10195793	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10202326	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1030901	0.85[EUR][1000 genomes]
rs1030902	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10460478	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123822	0.82[EUR][1000 genomes]
rs11123823	0.87[EUR][1000 genomes]
rs11123824	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11123826	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11123827	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1114595	0.83[EUR][1000 genomes]
rs11674569	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11674830	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11675901	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11678148	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11678158	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11680660	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11682557	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11682748	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11683088	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11684004	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11684516	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11685250	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11685406	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11686293	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11686649	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11686799	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11686842	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11686880	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11687352	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687865	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11688285	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11689439	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11691135	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11691684	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11693044	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11693424	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11693471	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11694642	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11694700	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11892034	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11895772	0.81[EUR][1000 genomes]
rs12615466	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12617779	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12618908	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12621892	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12622318	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12712075	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12989897	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12990688	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12991172	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12991577	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12997725	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12999151	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12999779	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13001423	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13006224	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13020451	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13021801	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13023534	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13026570	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13031711	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13031906	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1437967	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1437969	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1530028	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1530029	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1530030	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1530031	0.86[EUR][1000 genomes]
rs1811415	0.86[EUR][1000 genomes]
rs1837143	0.83[EUR][1000 genomes]
rs1866198	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1946799	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1967339	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1967340	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1967341	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2099611	0.81[EUR][1000 genomes]
rs2164847	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2241809	0.87[EUR][1000 genomes]
rs2241810	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2241811	0.82[EUR][1000 genomes]
rs2309798	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2309800	0.80[EUR][1000 genomes]
rs2309852	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3748930	0.86[EUR][1000 genomes]
rs3828193	0.85[EUR][1000 genomes]
rs4149505	0.85[EUR][1000 genomes]
rs4149507	0.85[EUR][1000 genomes]
rs4149510	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4149512	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4149513	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4149517	0.82[EUR][1000 genomes]
rs4149518	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4149523	0.81[EUR][1000 genomes]
rs4264577	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4340543	0.85[EUR][1000 genomes]
rs4378827	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4387816	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4407265	0.80[EUR][1000 genomes]
rs4477940	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4635546	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4640404	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4850927	0.87[EUR][1000 genomes]
rs4850929	0.81[EUR][1000 genomes]
rs4850930	0.81[EUR][1000 genomes]
rs4850931	0.86[EUR][1000 genomes]
rs4851288	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4851292	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4851293	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4851294	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4851297	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4851298	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4851300	0.87[ASN][1000 genomes]
rs4851302	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4851303	0.82[EUR][1000 genomes]
rs4851304	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4851305	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4851310	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4851311	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4851312	0.82[EUR][1000 genomes]
rs4851313	0.82[EUR][1000 genomes]
rs62148360	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6542940	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6542942	0.85[EUR][1000 genomes]
rs6542944	0.81[EUR][1000 genomes]
rs6542947	0.81[EUR][1000 genomes]
rs6716636	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6725052	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6731549	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6736311	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6737217	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6754176	0.81[EUR][1000 genomes]
rs6757754	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74177694	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74177695	0.84[EUR][1000 genomes]
rs74177696	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7425449	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7425797	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7585582	0.81[EUR][1000 genomes]
rs7597615	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs893416	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs920269	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs920270	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs930374	0.82[EUR][1000 genomes]
rs9973536	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100900800-100926600	Weak transcription	Right Ventricle	heart
2	chr2:100901000-100937000	Weak transcription	Fetal Brain Male	brain
3	chr2:100903400-100930800	Weak transcription	Brain Substantia Nigra	brain
4	chr2:100903600-100926200	Weak transcription	Fetal Kidney	kidney
5	chr2:100908800-100926600	Weak transcription	Gastric	stomach
6	chr2:100910400-100925800	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:100910800-100933600	Weak transcription	K562	blood
8	chr2:100912800-100934800	Weak transcription	Brain Angular Gyrus	brain
9	chr2:100915800-100923600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:100915800-100930600	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:100916000-100923600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:100916400-100925800	Strong transcription	A549	lung
13	chr2:100916600-100921400	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:100918200-100923800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:100918200-100926400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:100918200-100926600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:100918200-100926600	Weak transcription	Left Ventricle	heart
18	chr2:100918200-100929400	Weak transcription	Pancreas	Pancrea
19	chr2:100918200-100937600	Weak transcription	Aorta	Aorta
20	chr2:100918400-100931800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:100919000-100926600	Weak transcription	Fetal Brain Female	brain
22	chr2:100919200-100929000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:100919400-100923000	Weak transcription	Brain Anterior Caudate	brain
24	chr2:100919400-100923000	Weak transcription	Ovary	ovary
25	chr2:100919800-100923000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:100919800-100931200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:100920200-100921000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr2:100920400-100921000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:100920600-100921000	Strong transcription	Brain Germinal Matrix	brain
30	chr2:100920600-100921000	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr2:100920600-100921600	ZNF genes & repeats	Lung	lung
32	chr2:100920600-100924200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links