Variant report

Variant	rs632942
Chromosome Location	chr11:107297382-107297383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107294275..107298559-chr11:107301689..107304153,3	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10444318	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212134	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212148	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212174	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212199	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212238	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361977	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362335	1.00[ASN][1000 genomes]
rs12363600	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12364307	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365270	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365910	1.00[ASN][1000 genomes]
rs1263297	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1272372	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796588	0.86[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	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34129089	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34443916	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34661012	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34846704	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34938694	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35468021	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35504279	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476028	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs480609	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487705	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504617	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510528	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs514117	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517734	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518580	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526875	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527801	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs528337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529341	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536636	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537563	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546313	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548049	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549909	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554506	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570235	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588678	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589415	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59590014	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs596268	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs599677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602625	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608352	0.83[EUR][1000 genomes]
rs619933	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs626091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627440	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs629755	0.81[EUR][1000 genomes]
rs632910	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633543	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644954	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649331	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652429	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs659040	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661085	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664836	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667198	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668415	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67052454	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673267	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67382158	1.00[ASN][1000 genomes]
rs67428239	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675081	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs68000908	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68027391	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118326	1.00[ASN][1000 genomes]
rs7129866	0.92[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784149	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7924335	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs632942	CWF19L2	cis	Artery Tibial	GTEx
rs632942	CWF19L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107195000-107299200	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:107241600-107327800	Weak transcription	HSMMtube	muscle
3	chr11:107252600-107323800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:107255000-107327600	Weak transcription	Fetal Heart	heart
5	chr11:107256600-107298000	Weak transcription	Brain Substantia Nigra	brain
6	chr11:107256600-107327600	Weak transcription	NHDF-Ad	bronchial
7	chr11:107258800-107324200	Weak transcription	Small Intestine	intestine
8	chr11:107259200-107299600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:107259600-107323400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:107261600-107310200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:107262200-107324000	Weak transcription	Pancreas	Pancrea
12	chr11:107263200-107309400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:107263200-107310200	Weak transcription	Psoas Muscle	Psoas
14	chr11:107263200-107310400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:107263400-107298800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:107263600-107298200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:107263600-107308200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:107263600-107309400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:107263600-107309400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:107263600-107310600	Weak transcription	Brain Angular Gyrus	brain
21	chr11:107268600-107299400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:107268600-107312200	Weak transcription	K562	blood
23	chr11:107268600-107323400	Weak transcription	Gastric	stomach
24	chr11:107268800-107309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:107268800-107309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:107269000-107298400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:107269000-107324600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:107269800-107299600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:107270000-107312400	Weak transcription	Brain Germinal Matrix	brain
30	chr11:107272600-107312600	Weak transcription	Fetal Brain Female	brain
31	chr11:107274400-107312600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:107274600-107308800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:107274600-107312600	Weak transcription	Lung	lung
34	chr11:107274600-107323400	Weak transcription	Esophagus	oesophagus
35	chr11:107275400-107309400	Weak transcription	Fetal Stomach	stomach
36	chr11:107275400-107309400	Weak transcription	Right Ventricle	heart
37	chr11:107275400-107309400	Weak transcription	Spleen	Spleen
38	chr11:107275600-107298200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:107275600-107314800	Weak transcription	NHEK	skin
40	chr11:107275800-107298200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:107275800-107309400	Weak transcription	Thymus	Thymus
42	chr11:107276000-107298200	Weak transcription	Fetal Lung	lung
43	chr11:107276000-107299400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:107278000-107309400	Weak transcription	HUVEC	blood vessel
45	chr11:107281200-107308800	Weak transcription	Brain Anterior Caudate	brain
46	chr11:107281600-107308600	Weak transcription	Fetal Intestine Large	intestine
47	chr11:107281800-107298200	Weak transcription	HepG2	liver
48	chr11:107281800-107309400	Weak transcription	Fetal Intestine Small	intestine
49	chr11:107282000-107309400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:107284400-107298400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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