Variant report

Variant	rs7809411
Chromosome Location	chr7:110660055-110660056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:110654683..110656937-chr7:110658000..110660146,2	K562	blood:
2	chr7:110641915..110646048-chr7:110658516..110661977,3	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10225614	0.84[JPT][hapmap]
rs10464637	0.88[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap]
rs115825	1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs115826	1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs166308	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs174074	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs17438711	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17527832	0.88[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs17528429	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs17528930	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs2041531	0.85[GIH][hapmap];0.84[JPT][hapmap]
rs214457	0.82[YRI][hapmap]
rs2191926	0.87[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap]
rs258988	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs258989	0.88[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap]
rs258991	1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs258992	0.92[JPT][hapmap]
rs258994	0.92[JPT][hapmap]
rs258995	0.92[JPT][hapmap]
rs258996	0.83[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap]
rs258997	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs258998	0.88[CHB][hapmap];0.84[CHD][hapmap];0.92[JPT][hapmap]
rs258999	0.88[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap]
rs259000	0.88[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs259002	0.88[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap]
rs259004	0.83[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs259006	0.83[ASW][hapmap];0.84[JPT][hapmap]
rs259008	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs259009	0.88[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs259011	0.84[ASN][1000 genomes]
rs259012	0.88[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap]
rs259013	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs259022	0.86[ASN][1000 genomes]
rs4141112	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4727753	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs4730467	0.82[ASN][1000 genomes]
rs55693011	0.99[ASN][1000 genomes]
rs56148096	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56160040	0.92[ASN][1000 genomes]
rs56277540	0.81[ASN][1000 genomes]
rs57167163	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57238777	0.98[ASN][1000 genomes]
rs58495202	0.84[ASN][1000 genomes]
rs58585976	0.82[AMR][1000 genomes]
rs60581416	0.91[ASN][1000 genomes]
rs60807734	0.88[ASN][1000 genomes]
rs6466368	0.94[GIH][hapmap];0.92[JPT][hapmap]
rs6466370	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs66596422	0.89[ASN][1000 genomes]
rs67679818	0.84[ASN][1000 genomes]
rs6960818	0.93[ASN][1000 genomes]
rs6972608	0.84[JPT][hapmap]
rs6973561	0.89[YRI][hapmap]
rs6975100	0.88[LWK][hapmap]
rs6978507	0.91[ASN][1000 genomes]
rs725272	0.82[GIH][hapmap];0.84[JPT][hapmap]
rs73435146	0.92[ASN][1000 genomes]
rs758952	0.84[CHB][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs758954	0.86[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs7796806	0.88[GIH][hapmap]
rs799625	0.91[ASW][hapmap];0.82[YRI][hapmap]
rs917763	0.92[JPT][hapmap]
rs9690080	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023596	chr7:109984459-110708071	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539061	chr7:109984459-110708071	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv531434	chr7:110310931-110839892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh 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
4	esv3506497	chr7:110484691-111091738	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3506498	chr7:110484750-111091689	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv888973	chr7:110509579-110699652	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv888974	chr7:110516659-110660055	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv2758129	chr7:110523298-110787849	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2759554	chr7:110523298-110787849	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1031546	chr7:110549137-110978256	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv817555	chr7:110564801-110990927	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1033286	chr7:110588021-110990928	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv539063	chr7:110588021-110990928	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv931978	chr7:110607590-111092490	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1025987	chr7:110609568-111258501	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv888975	chr7:110613685-110677656	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv2830178	chr7:110645431-110778571	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv1024477	chr7:110660006-110944477	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7809411	IMMP2L	Cis_1M	lymphoblastoid	RTeQTL
rs7809411	IMMP2L	cis	multi-tissue	Pritchard

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110646200-110660600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:110648400-110663800	Weak transcription	Aorta	Aorta
3	chr7:110654200-110667000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:110657200-110661000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr7:110657200-110661400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr7:110657600-110660800	Enhancers	Dnd41	blood
7	chr7:110657800-110666400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:110659000-110660200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:110659000-110660800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr7:110659200-110660800	Enhancers	Fetal Thymus	thymus
11	chr7:110659600-110664400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr7:110659600-110664800	Weak transcription	HepG2	liver
13	chr7:110659600-110669400	Weak transcription	Fetal Lung	lung
14	chr7:110659800-110661200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr7:110659800-110663200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:110659800-110664200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:110659800-110669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:110660000-110662200	Weak transcription	Thymus	Thymus
19	chr7:110660000-110664200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:110660000-110664800	Enhancers	Primary T cells from cord blood	blood
21	chr7:110660000-110666000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:110660000-110669400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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