Variant report

Variant	rs115825
Chromosome Location	chr7:110562681-110562682
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	chr7:110562485..110565430-chr7:110569547..110571783,2	K562	blood:
2	chr7:110561201..110563985-chr7:110569951..110571783,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10225614	0.91[GIH][hapmap];0.86[JPT][hapmap]
rs10464637	0.88[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs115826	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs166308	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs174074	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17438711	0.92[JPT][hapmap]
rs17527832	0.88[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs17528429	1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17528930	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs2041531	0.88[GIH][hapmap];0.85[JPT][hapmap]
rs2191926	0.87[CHD][hapmap];0.93[JPT][hapmap]
rs258988	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs258989	0.88[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.94[ASN][1000 genomes]
rs258990	0.94[ASN][1000 genomes]
rs258991	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.91[ASN][1000 genomes]
rs258996	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap]
rs258997	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs258998	0.88[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs258999	0.88[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.94[ASN][1000 genomes]
rs259000	0.88[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs259002	0.88[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs259003	0.83[AFR][1000 genomes]
rs259004	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs259006	0.97[GIH][hapmap];0.86[JPT][hapmap]
rs259008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs259009	0.88[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs259011	0.88[ASN][1000 genomes]
rs259012	0.88[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap]
rs259013	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs259022	0.86[ASN][1000 genomes]
rs4141112	0.84[ASN][1000 genomes]
rs4727753	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs4730467	0.89[ASN][1000 genomes]
rs55693011	0.83[ASN][1000 genomes]
rs56148096	0.86[ASN][1000 genomes]
rs56160040	0.83[ASN][1000 genomes]
rs57167163	0.90[ASN][1000 genomes]
rs57238777	0.82[ASN][1000 genomes]
rs60581416	0.84[ASN][1000 genomes]
rs60807734	0.89[ASN][1000 genomes]
rs6466368	0.83[MEX][hapmap]
rs6466370	0.86[JPT][hapmap]
rs66596422	0.90[ASN][1000 genomes]
rs6972608	0.86[JPT][hapmap]
rs6978507	0.84[ASN][1000 genomes]
rs725272	0.91[GIH][hapmap];0.86[JPT][hapmap]
rs758952	0.84[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs758954	0.86[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs7796806	0.93[JPT][hapmap]
rs7809411	1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs876396	0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv608147	chr7:110292046-110617845	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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
5	nsv888972	chr7:110470629-110635497	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv1019911	chr7:110505973-110570241	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs115825	IMMP2L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110561200-110563800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:110561200-110564200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:110561200-110564200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:110561200-110564400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:110561200-110564600	Enhancers	HMEC	breast
6	chr7:110561400-110563200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:110561400-110564200	Enhancers	NHEK	skin
8	chr7:110561400-110564600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:110561600-110564200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:110561800-110563600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:110561800-110588800	Weak transcription	Left Ventricle	heart
12	chr7:110562000-110563000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:110562000-110563400	Enhancers	NHDF-Ad	bronchial
14	chr7:110562000-110564000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:110562400-110562800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:110562400-110562800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:110562400-110568600	Weak transcription	Fetal Heart	heart
18	chr7:110562600-110563400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:110562600-110563400	Enhancers	A549	lung
20	chr7:110562600-110564000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:110562600-110564200	Enhancers	HUVEC	blood vessel

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