Variant report

Variant	rs668415
Chromosome Location	chr11:107316189-107316190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107316050..107321391-chr11:107326122..107330331,6	K562	blood:
2	chr11:107311039..107313196-chr11:107315188..107317825,2	K562	blood:
3	chr11:107316142..107319127-chr11:107320782..107322583,2	K562	blood:

Variant related genes	Relation type
ENSG00000152404	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10444318	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212134	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212148	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212174	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212199	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212238	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361977	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362335	1.00[ASN][1000 genomes]
rs12363600	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12364307	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365270	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365910	1.00[ASN][1000 genomes]
rs1263297	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1272372	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796588	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12800923	1.00[ASN][1000 genomes]
rs17587706	1.00[ASN][1000 genomes]
rs1989215	1.00[ASN][1000 genomes]
rs2432867	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34129089	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34443916	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34661012	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34846704	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34938694	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35468021	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35504279	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476028	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs480609	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487705	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504617	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510528	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs514117	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517734	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518580	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526875	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527801	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs528337	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529341	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536636	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537563	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541782	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546313	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548049	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549909	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554506	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570235	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584778	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588678	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589415	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59590014	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs596268	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs599677	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602625	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608352	0.82[EUR][1000 genomes]
rs619933	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs626091	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627440	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628609	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs629755	0.82[EUR][1000 genomes]
rs632910	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632942	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633543	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644954	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649331	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652429	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs659040	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661085	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664836	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667198	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67052454	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673267	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67382158	1.00[ASN][1000 genomes]
rs67428239	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675081	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs68000908	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68027391	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118326	1.00[ASN][1000 genomes]
rs7129866	0.90[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	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784149	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7924335	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv898375	chr11:107299631-107365191	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv898376	chr11:107299631-107443420	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs668415	CWF19L2	Cis_1M	lymphoblastoid	RTeQTL
rs668415	CWF19L2	cis	Artery Tibial	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107241600-107327800	Weak transcription	HSMMtube	muscle
2	chr11:107252600-107323800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:107255000-107327600	Weak transcription	Fetal Heart	heart
4	chr11:107256600-107327600	Weak transcription	NHDF-Ad	bronchial
5	chr11:107258800-107324200	Weak transcription	Small Intestine	intestine
6	chr11:107259600-107323400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:107262200-107324000	Weak transcription	Pancreas	Pancrea
8	chr11:107268600-107323400	Weak transcription	Gastric	stomach
9	chr11:107269000-107324600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:107274600-107323400	Weak transcription	Esophagus	oesophagus
11	chr11:107286600-107322800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:107291400-107324000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:107292800-107327600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:107294200-107317800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:107296400-107323600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:107296800-107325600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:107297200-107324400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:107298200-107327400	Weak transcription	A549	lung
19	chr11:107300200-107323200	Weak transcription	HSMM	muscle
20	chr11:107300400-107324200	Weak transcription	NHLF	lung
21	chr11:107300400-107326800	Weak transcription	Hela-S3	cervix
22	chr11:107301000-107326800	Weak transcription	HMEC	breast
23	chr11:107305000-107319600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr11:107306800-107318200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:107307000-107318800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:107307000-107319400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:107307400-107323400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:107307400-107323400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:107307600-107323200	Weak transcription	Osteobl	bone
30	chr11:107307800-107323400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:107307800-107323400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:107307800-107326800	Weak transcription	Fetal Brain Male	brain
33	chr11:107308000-107317200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:107308000-107319600	Strong transcription	Adipose Nuclei	Adipose
35	chr11:107308200-107316200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:107308200-107317600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:107308200-107318400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:107308200-107319600	Strong transcription	Primary T cells from cord blood	blood
39	chr11:107308200-107319600	Strong transcription	Fetal Thymus	thymus
40	chr11:107308400-107319600	Strong transcription	Primary B cells from cord blood	blood
41	chr11:107308400-107319600	Strong transcription	Liver	Liver
42	chr11:107308600-107317800	Strong transcription	Fetal Intestine Large	intestine
43	chr11:107308800-107318800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:107309000-107317200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr11:107309200-107324000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:107309400-107316600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:107309400-107317000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:107309400-107317000	Weak transcription	Stomach Mucosa	stomach
49	chr11:107309400-107320200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr11:107309800-107323400	Weak transcription	Left Ventricle	heart

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