Variant report

Variant	rs34661012
Chromosome Location	chr11:107232338-107232339
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10444318	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212134	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212148	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212174	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212199	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212238	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361977	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362335	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363600	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12364307	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365270	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365910	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1263297	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1272372	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796588	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12800923	1.00[ASN][1000 genomes]
rs17587706	1.00[ASN][1000 genomes]
rs17662199	1.00[ASN][1000 genomes]
rs1989215	1.00[ASN][1000 genomes]
rs2432867	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34129089	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34443916	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34846704	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34938694	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35468021	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35504279	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476028	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs480609	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487705	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504617	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510528	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs514117	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517734	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518580	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526875	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527801	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs528337	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529341	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536636	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537563	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541782	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546313	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548049	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549909	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554506	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570235	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584778	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588678	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589415	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59590014	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs596268	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs599677	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602625	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619933	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs626091	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627440	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628609	0.89[EUR][1000 genomes]
rs632910	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632942	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633543	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644954	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649331	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652429	0.89[EUR][1000 genomes]
rs659040	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661085	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664836	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667198	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668415	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67052454	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673267	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67382158	1.00[ASN][1000 genomes]
rs67428239	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68000908	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68027391	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118326	1.00[ASN][1000 genomes]
rs7129866	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72986689	1.00[ASN][1000 genomes]
rs72990457	1.00[ASN][1000 genomes]
rs72997052	1.00[ASN][1000 genomes]
rs784147	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784149	0.89[EUR][1000 genomes]
rs7924335	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898364	chr11:106944975-107285636	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv832261	chr11:107145901-107321562	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv898374	chr11:107156880-107263130	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv2756363	chr11:107189790-107376790	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	nsv556281	chr11:107197869-107240802	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv475	chr11:107211800-107255722	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv556282	chr11:107218404-107243206	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv75	chr11:107219624-107251780	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv508655	chr11:107222641-107257485	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv556283	chr11:107222904-107240250	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1821763	chr11:107222904-107243427	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1810653	chr11:107222904-107250851	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv1035610	chr11:107223758-107239116	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv8872	chr11:107228364-107249620	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv975128	chr11:107228453-107242486	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv971960	chr11:107228453-107250916	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv2760173	chr11:107229764-107239128	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv1000794	chr11:107231447-107249177	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv14002	chr11:107231516-107243470	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv556284	chr11:107231605-107240795	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv556285	chr11:107231605-107241535	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv556286	chr11:107231605-107242921	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	nsv556287	chr11:107231605-107242988	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	esv1823282	chr11:107231605-107250851	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	esv1812501	chr11:107232338-107243427	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34661012	CWF19L2	cis	Artery Tibial	GTEx
rs34661012	CWF19L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107180000-107233200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:107183400-107234400	Weak transcription	HSMMtube	muscle
3	chr11:107193800-107237200	Weak transcription	Gastric	stomach
4	chr11:107194600-107235600	Weak transcription	Aorta	Aorta
5	chr11:107195000-107299200	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:107195200-107233000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:107198200-107233200	Weak transcription	Placenta	Placenta
8	chr11:107198200-107240800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:107205600-107234800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:107214200-107232600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:107215800-107233000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:107215800-107240800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:107219800-107232600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:107219800-107234800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:107219800-107256400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:107220000-107234000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:107221800-107232600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr11:107221800-107232800	Weak transcription	Left Ventricle	heart
19	chr11:107221800-107258400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:107222000-107240200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:107222600-107232600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:107223000-107253000	Weak transcription	Liver	Liver
23	chr11:107223000-107253600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:107223000-107256400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:107223000-107260600	Weak transcription	Brain Anterior Caudate	brain
26	chr11:107223000-107260600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:107223200-107234200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:107223200-107234800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:107223800-107234400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:107224000-107258400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr11:107224400-107233600	Weak transcription	Dnd41	blood
32	chr11:107224600-107249600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:107224600-107253400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:107225800-107250000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:107225800-107256400	Weak transcription	Adipose Nuclei	Adipose
36	chr11:107227200-107239000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:107228200-107241000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:107229600-107232600	Strong transcription	Primary B cells from cord blood	blood
39	chr11:107229800-107232800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:107230000-107253400	Weak transcription	Lung	lung
41	chr11:107230200-107261400	Weak transcription	Ovary	ovary
42	chr11:107230800-107233600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:107231400-107232400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr11:107231600-107232400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:107232200-107249600	Weak transcription	Primary T cells from cord blood	blood

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