Variant report

Variant	rs624584
Chromosome Location	chr11:107344724-107344725
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	chr11:107342962..107345043-chr11:107346726..107348566,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1046094	1.00[JPT][hapmap];0.87[MEX][hapmap]
rs1046095	1.00[JPT][hapmap]
rs10502087	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10749896	1.00[JPT][hapmap]
rs10789615	1.00[JPT][hapmap]
rs10789616	0.92[JPT][hapmap]
rs10789617	1.00[JPT][hapmap]
rs10789618	1.00[JPT][hapmap];0.82[MEX][hapmap]
rs10789620	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs10789621	0.85[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs10890708	1.00[JPT][hapmap]
rs10890712	1.00[JPT][hapmap]
rs10890719	0.82[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs10890720	0.82[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs10890721	1.00[JPT][hapmap]
rs11212166	1.00[JPT][hapmap]
rs11212177	0.86[EUR][1000 genomes]
rs11212182	0.85[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs11212197	1.00[JPT][hapmap]
rs11212206	0.85[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap]
rs11212207	1.00[JPT][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs11602033	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs12223855	0.80[EUR][1000 genomes]
rs12286915	1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap]
rs1490947	0.80[EUR][1000 genomes]
rs17106875	0.93[JPT][hapmap]
rs2356280	0.86[EUR][1000 genomes]
rs3758911	1.00[JPT][hapmap];0.82[MEX][hapmap]
rs4387327	1.00[JPT][hapmap]
rs4576794	0.86[EUR][1000 genomes]
rs56753250	0.86[EUR][1000 genomes]
rs588921	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs590699	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59525924	0.86[EUR][1000 genomes]
rs6588965	1.00[JPT][hapmap]
rs687991	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72990438	0.86[EUR][1000 genomes]
rs7358308	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs999984	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:29 , 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	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
11	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
12	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
13	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
14	nsv898377	chr11:107316499-107354312	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv1046322	chr11:107331321-107347234	Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv2760168	chr11:107331333-107347234	Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1052522	chr11:107331426-107344746	Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1045250	chr11:107331426-107347234	Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv1036539	chr11:107331679-107347234	Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv1048412	chr11:107331688-107351954	Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3472186	chr11:107335843-107348362	Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv3472197	chr11:107335843-107348362	Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv1042464	chr11:107337941-107353313	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv442243	chr11:107337953-107347232	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv2421471	chr11:107337953-107347381	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv3693100	chr11:107339155-107347381	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv515572	chr11:107340597-107347381	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv818864	chr11:107340597-107348277	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv975383	chr11:107341129-107347789	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs624584	KDELC2	cis	parietal	SCAN
rs624584	CWF19L2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107344200-107345000	Enhancers	Fetal Kidney	kidney
2	chr11:107344200-107345200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:107344600-107345800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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