Variant report

Variant	rs7940872
Chromosome Location	chr11:9284593-9284594
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: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	chr11:9283945..9285657-chr11:9332278..9334746,2	K562	blood:
2	chr11:9283842..9285699-chr11:9308207..9310804,2	K562	blood:
3	chr11:9283842..9286911-chr11:9307794..9310804,4	K562	blood:
4	chr11:9283945..9288774-chr11:9332278..9339081,12	K562	blood:
5	chr11:9280208..9281989-chr11:9282127..9285333,4	K562	blood:
6	chr11:9282323..9285944-chr11:9290054..9293255,4	K562	blood:
7	chr11:9283600..9286553-chr11:9290163..9293255,5	K562	blood:
8	chr11:9260075..9262921-chr11:9283995..9286236,2	K562	blood:
9	chr11:9276956..9280134-chr11:9283960..9286247,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254884	Chromatin interaction
ENSG00000166471	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10454487	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840188	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840189	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042215	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042217	1.00[ASN][1000 genomes]
rs11042224	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042228	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042230	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042231	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042232	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042233	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042240	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042241	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042242	1.00[ASN][1000 genomes]
rs11042246	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042253	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042257	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11042259	0.99[EUR][1000 genomes]
rs11042268	0.91[EUR][1000 genomes]
rs11042272	0.87[EUR][1000 genomes]
rs12286621	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360767	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362997	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12363645	0.83[EUR][1000 genomes]
rs12363839	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17257379	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133215	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627079	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4910446	0.99[EUR][1000 genomes]
rs4910447	0.93[EUR][1000 genomes]
rs55962227	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56294473	1.00[ASN][1000 genomes]
rs60693427	1.00[ASN][1000 genomes]
rs6486204	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486209	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66554737	1.00[ASN][1000 genomes]
rs7103472	0.91[EUR][1000 genomes]
rs7115283	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7115373	0.91[EUR][1000 genomes]
rs7121753	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129049	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130400	1.00[ASN][1000 genomes]
rs72850512	0.91[EUR][1000 genomes]
rs72850528	0.89[EUR][1000 genomes]
rs72850531	0.89[EUR][1000 genomes]
rs72850544	0.84[EUR][1000 genomes]
rs72850552	0.80[EUR][1000 genomes]
rs72859608	0.82[EUR][1000 genomes]
rs72859676	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859678	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859693	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861335	0.99[EUR][1000 genomes]
rs72861360	0.93[EUR][1000 genomes]
rs7394454	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7394869	1.00[ASN][1000 genomes]
rs7395631	1.00[ASN][1000 genomes]
rs7929621	1.00[ASN][1000 genomes]
rs7936622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938562	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939704	0.93[EUR][1000 genomes]
rs7945570	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949349	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645644	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9253000-9285600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:9257000-9284800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:9257200-9285600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:9261800-9285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:9264000-9284600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:9264200-9285400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:9265600-9284600	Weak transcription	Brain Germinal Matrix	brain
8	chr11:9267800-9285600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:9270200-9284800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:9272000-9284600	Weak transcription	Fetal Brain Female	brain
11	chr11:9272000-9285400	Weak transcription	HSMMtube	muscle
12	chr11:9272600-9285600	Weak transcription	Small Intestine	intestine
13	chr11:9273200-9285400	Weak transcription	K562	blood
14	chr11:9274600-9285400	Weak transcription	Fetal Intestine Large	intestine
15	chr11:9275200-9285400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:9277600-9285400	Weak transcription	Fetal Intestine Small	intestine
17	chr11:9278400-9285400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:9278600-9285400	Weak transcription	NHEK	skin
19	chr11:9279200-9285400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:9280400-9284800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:9280400-9285400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:9281200-9284800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr11:9281200-9284800	Enhancers	Brain Hippocampus Middle	brain
24	chr11:9281200-9285000	Enhancers	Brain Cingulate Gyrus	brain
25	chr11:9281200-9285200	Enhancers	Fetal Heart	heart
26	chr11:9281200-9285400	Enhancers	Primary B cells from cord blood	blood
27	chr11:9281200-9285400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr11:9281200-9285400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr11:9281400-9284600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:9281400-9284800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:9281400-9285200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr11:9281400-9285600	Weak transcription	Pancreas	Pancrea
33	chr11:9281600-9284800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:9281600-9285000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr11:9281600-9285200	Enhancers	A549	lung
36	chr11:9281800-9285400	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:9282000-9285200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr11:9282000-9285400	Enhancers	HUVEC	blood vessel
39	chr11:9282000-9285600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:9282200-9285200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:9282200-9285400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:9282200-9285600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:9282400-9284600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:9282400-9285400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:9282400-9285400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:9282600-9284800	Weak transcription	Ovary	ovary
47	chr11:9282600-9285400	Weak transcription	Liver	Liver
48	chr11:9282800-9284800	Enhancers	Primary T cells from cord blood	blood
49	chr11:9282800-9284800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:9282800-9284800	Weak transcription	Right Ventricle	heart

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