Variant report

Variant	rs12800923
Chromosome Location	chr11:107242027-107242028
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107237489..107239255-chr11:107241546..107243344,2	K562	blood:
2	chr11:107241951..107244732-chr11:107327122..107328857,2	K562	blood:

Variant related genes	Relation type
ENSG00000152404	Chromatin interaction

Extended variants
information (count: 280 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10444318	1.00[ASN][1000 genomes]
rs11212134	1.00[ASN][1000 genomes]
rs11212148	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11212174	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11212199	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11212238	1.00[ASN][1000 genomes]
rs12361977	1.00[ASN][1000 genomes]
rs12362335	1.00[ASN][1000 genomes]
rs12363600	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12364307	1.00[ASN][1000 genomes]
rs12365270	1.00[ASN][1000 genomes]
rs12365910	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263297	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1272372	1.00[ASN][1000 genomes]
rs12796588	1.00[ASN][1000 genomes]
rs17587706	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17662199	1.00[ASN][1000 genomes]
rs1989215	1.00[ASN][1000 genomes]
rs2432867	1.00[ASN][1000 genomes]
rs34129089	1.00[ASN][1000 genomes]
rs34443916	1.00[ASN][1000 genomes]
rs34661012	1.00[ASN][1000 genomes]
rs34846704	1.00[ASN][1000 genomes]
rs34938694	1.00[ASN][1000 genomes]
rs35468021	1.00[ASN][1000 genomes]
rs35504279	1.00[ASN][1000 genomes]
rs476028	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs480609	1.00[ASN][1000 genomes]
rs487705	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs504617	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs514117	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs517734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs517929	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs518580	1.00[ASN][1000 genomes]
rs526875	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs527801	1.00[ASN][1000 genomes]
rs528337	1.00[ASN][1000 genomes]
rs529341	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs536636	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs537563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs541782	1.00[ASN][1000 genomes]
rs546313	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs548049	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs549909	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs554506	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs570235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs584778	1.00[ASN][1000 genomes]
rs588678	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs589415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs596268	1.00[ASN][1000 genomes]
rs599677	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs602625	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs612080	1.00[CHB][hapmap]
rs619933	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs626091	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs627440	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs628609	1.00[CHB][hapmap]
rs632186	1.00[CHB][hapmap]
rs632910	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs632942	1.00[ASN][1000 genomes]
rs633543	1.00[ASN][1000 genomes]
rs643392	0.86[CEU][hapmap]
rs644954	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs649331	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs652429	1.00[CHB][hapmap]
rs659040	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs661085	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs664836	1.00[ASN][1000 genomes]
rs667198	1.00[ASN][1000 genomes]
rs668415	1.00[ASN][1000 genomes]
rs67052454	1.00[ASN][1000 genomes]
rs67382158	1.00[ASN][1000 genomes]
rs67428239	1.00[ASN][1000 genomes]
rs68000908	1.00[ASN][1000 genomes]
rs68027391	1.00[ASN][1000 genomes]
rs7118326	1.00[ASN][1000 genomes]
rs7129866	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[ASN][1000 genomes]
rs7924335	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

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	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	esv3474975	chr11:107236642-107243440	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	esv3474986	chr11:107236642-107243440	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	esv3512690	chr11:107237292-107245190	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	esv3512689	chr11:107237692-107245090	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	esv3512691	chr11:107237692-107245090	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	esv1805814	chr11:107238644-107252350	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	esv18472	chr11:107238660-107243470	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	esv15462	chr11:107238737-107249703	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	nsv826077	chr11:107238927-107242697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	esv1805845	chr11:107238927-107242910	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	esv1806288	chr11:107238927-107242910	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	esv1819048	chr11:107238927-107242910	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	esv1821029	chr11:107238927-107242910	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	esv1826107	chr11:107238927-107242910	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
43	esv1830272	chr11:107238927-107242910	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
44	esv1847340	chr11:107238927-107242910	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
45	esv1847546	chr11:107238927-107242910	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
46	nsv826078	chr11:107238927-107242910	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
47	esv1820282	chr11:107239106-107242088	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
48	esv1850367	chr11:107239106-107242088	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
49	nsv556297	chr11:107239106-107242143	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
50	esv1819555	chr11:107239106-107242151	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12800923	CWF19L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107195000-107299200	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:107219800-107256400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:107221800-107258400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:107223000-107253000	Weak transcription	Liver	Liver
5	chr11:107223000-107253600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:107223000-107256400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:107223000-107260600	Weak transcription	Brain Anterior Caudate	brain
8	chr11:107223000-107260600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:107224000-107258400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:107224600-107249600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:107224600-107253400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:107225800-107250000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:107225800-107256400	Weak transcription	Adipose Nuclei	Adipose
14	chr11:107230000-107253400	Weak transcription	Lung	lung
15	chr11:107230200-107261400	Weak transcription	Ovary	ovary
16	chr11:107232200-107249600	Weak transcription	Primary T cells from cord blood	blood
17	chr11:107232400-107257800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr11:107239400-107253400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:107240600-107261800	Weak transcription	Fetal Lung	lung
20	chr11:107241000-107253000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:107241600-107243000	Weak transcription	NHEK	skin
22	chr11:107241600-107261200	Weak transcription	Fetal Kidney	kidney
23	chr11:107241600-107327800	Weak transcription	HSMMtube	muscle
24	chr11:107241800-107246400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links