Variant report

Variant	rs11231172
Chromosome Location	chr11:62412944-62412945
allele	C/T
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62412098..62414534-chr11:62492500..62497433,5	K562	blood:
2	chr11:62328044..62331009-chr11:62411420..62414056,2	MCF-7	breast:
3	chr11:62365983..62370724-chr11:62412063..62418373,9	K562	blood:
4	chr11:62340405..62345110-chr11:62411071..62415747,8	MCF-7	breast:
5	chr11:62386748..62390823-chr11:62412672..62415104,3	K562	blood:
6	chr11:62403450..62410109-chr11:62410421..62417583,11	K562	blood:
7	chr11:62407005..62417562-chr11:62426315..62441135,36	MCF-7	breast:
8	chr11:62412367..62415270-chr11:62527410..62529338,2	K562	blood:
9	chr11:62411925..62413931-chr11:62459508..62462404,2	K562	blood:
10	chr11:62339860..62342265-chr11:62412690..62415547,3	K562	blood:
11	chr11:62358975..62360665-chr11:62412464..62414190,2	MCF-7	breast:
12	chr11:62397128..62402024-chr11:62412665..62417059,9	K562	blood:
13	chr11:62412542..62416623-chr11:62445083..62448015,6	MCF-7	breast:
14	chr11:62337383..62339735-chr11:62412421..62413979,2	MCF-7	breast:
15	chr11:62371327..62373689-chr11:62412733..62415547,2	MCF-7	breast:
16	chr11:62386755..62391495-chr11:62411630..62418076,15	MCF-7	breast:
17	chr11:62365700..62368469-chr11:62411139..62413899,3	MCF-7	breast:
18	chr11:62379915..62385772-chr11:62411575..62415305,8	MCF-7	breast:
19	chr11:62389615..62391711-chr11:62410894..62415221,6	MCF-7	breast:
20	chr11:62412692..62413654-chr11:62462121..62462845,2	K562	blood:
21	chr11:62412109..62413647-chr11:62605255..62608243,2	K562	blood:
22	chr11:62412088..62413964-chr11:62490070..62492165,2	MCF-7	breast:
23	chr11:62367022..62370613-chr11:62412660..62415093,5	MCF-7	breast:
24	chr11:62378641..62383731-chr11:62412268..62415992,8	K562	blood:
25	chr11:62377695..62382560-chr11:62411978..62415698,6	MCF-7	breast:
26	chr11:62374466..62376274-chr11:62412386..62414477,2	MCF-7	breast:
27	chr11:62379239..62383319-chr11:62411576..62416139,7	K562	blood:
28	chr11:62311584..62314251-chr11:62412170..62416560,6	MCF-7	breast:
29	chr11:62412098..62414534-chr11:62491927..62496781,5	K562	blood:
30	chr11:62356914..62360610-chr11:62411901..62414699,4	K562	blood:
31	chr11:62312411..62314726-chr11:62411972..62413805,2	K562	blood:
32	chr11:62412431..62414670-chr11:62458525..62461008,2	K562	blood:
33	chr11:62412425..62414527-chr11:62607943..62609847,3	MCF-7	breast:
34	chr11:62394769..62397022-chr11:62411940..62414057,2	MCF-7	breast:
35	chr11:62412420..62415681-chr11:62473795..62477393,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149480	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000254964	Chromatin interaction
ENSG00000257058	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10792355	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10792356	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10897289	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11231173	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11231176	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11231181	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11231182	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11231183	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11231184	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12291465	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12364753	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12364756	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13941	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17637597	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1893458	0.90[ASN][1000 genomes]
rs2956993	0.90[ASN][1000 genomes]
rs2956995	0.90[ASN][1000 genomes]
rs2957122	0.80[ASN][1000 genomes]
rs2958236	0.80[ASN][1000 genomes]
rs3017188	0.83[ASN][1000 genomes]
rs3809079	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4489748	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs489778	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs597259	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60435036	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661182	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67909703	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs693698	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7122950	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs71462310	0.82[AMR][1000 genomes]
rs71490396	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71490397	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7949030	0.84[ASN][1000 genomes]
rs9736354	0.97[ASN][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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
6	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11231172	EML3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62390000-62413200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62402200-62413000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:62405400-62413000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:62406000-62413000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:62406800-62413000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:62407200-62413000	Weak transcription	Psoas Muscle	Psoas
7	chr11:62407200-62413200	Weak transcription	Aorta	Aorta
8	chr11:62407200-62413200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:62410600-62413200	Weak transcription	Stomach Mucosa	stomach
10	chr11:62411800-62413000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr11:62411800-62413000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
12	chr11:62411800-62413000	Enhancers	Colon Smooth Muscle	Colon
13	chr11:62411800-62413000	Genic enhancers	Fetal Muscle Leg	muscle
14	chr11:62412000-62413000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr11:62412000-62413000	Enhancers	Right Ventricle	heart
16	chr11:62412000-62413200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:62412000-62413200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:62412200-62413000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:62412200-62413000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr11:62412200-62413000	Enhancers	Primary B cells from cord blood	blood
21	chr11:62412200-62413000	Enhancers	Primary T cells from cord blood	blood
22	chr11:62412200-62413000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr11:62412200-62413000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:62412200-62413000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:62412200-62413000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr11:62412200-62413000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:62412200-62413200	Weak transcription	Ovary	ovary
28	chr11:62412200-62413200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr11:62412200-62413200	Enhancers	Spleen	Spleen
30	chr11:62412200-62414800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr11:62412400-62413000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:62412400-62413000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:62412400-62413000	Enhancers	Primary B cells from peripheral blood	blood
34	chr11:62412400-62413000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr11:62412400-62413000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:62412400-62413000	Enhancers	Brain Anterior Caudate	brain
37	chr11:62412400-62413000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr11:62412400-62413000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr11:62412400-62413000	Enhancers	Fetal Brain Male	brain
40	chr11:62412400-62413000	Enhancers	Fetal Intestine Large	intestine
41	chr11:62412400-62413000	Enhancers	Fetal Lung	lung
42	chr11:62412400-62413000	Enhancers	Placenta	Placenta
43	chr11:62412400-62413000	Genic enhancers	Fetal Stomach	stomach
44	chr11:62412400-62413000	Enhancers	Pancreas	Pancrea
45	chr11:62412400-62413000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr11:62412400-62413000	Enhancers	Rectal Smooth Muscle	rectum
47	chr11:62412400-62413000	Enhancers	Right Atrium	heart
48	chr11:62412400-62413000	Enhancers	Small Intestine	intestine
49	chr11:62412400-62413000	Enhancers	HMEC	breast
50	chr11:62412400-62413000	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links