Variant report

Variant	rs2544814
Chromosome Location	chr5:176929974-176929975
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	chr5:176759238..176761473-chr5:176928139..176930069,2	MCF-7	breast:
2	chr5:176731427..176733282-chr5:176928163..176931124,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169230	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs179810	0.83[EUR][1000 genomes]
rs234376	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2630759	0.81[EUR][1000 genomes]
rs28425483	0.90[JPT][hapmap]
rs335428	0.85[EUR][1000 genomes]
rs335429	0.85[EUR][1000 genomes]
rs335431	0.89[CEU][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs335462	0.85[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs337366	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs337368	0.97[EUR][1000 genomes]
rs337370	0.89[CEU][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs96656	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv883158	chr5:176726635-176931706	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv883160	chr5:176740996-176952919	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
5	nsv883161	chr5:176754722-176958397	Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
6	nsv1020334	chr5:176779108-176954933	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
7	nsv883164	chr5:176780545-177003616	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
8	esv1816147	chr5:176787037-176966509	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv883166	chr5:176817636-176940384	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
10	nsv883170	chr5:176824137-176952919	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	nsv883173	chr5:176842474-176931706	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
12	nsv883174	chr5:176842474-176940384	Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
13	nsv883175	chr5:176842474-176952919	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
14	nsv1030965	chr5:176851182-176937654	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
15	nsv1026103	chr5:176851182-176942552	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
16	nsv1022832	chr5:176861503-176937654	Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
17	nsv1018088	chr5:176861503-176942552	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
18	nsv1028123	chr5:176861503-176949149	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
19	nsv537965	chr5:176861503-176949149	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
20	nsv883177	chr5:176868358-177003616	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
21	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
22	nsv883180	chr5:176912073-176937177	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
23	nsv984570	chr5:176923414-176956300	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
24	esv3362324	chr5:176929796-176932294	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2544814	PDLIM7	cis	Muscle Skeletal	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:176925400-176930000	Weak transcription	Gastric	stomach
2	chr5:176925400-176930600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:176925400-176937200	Weak transcription	Aorta	Aorta
4	chr5:176925400-176937200	Weak transcription	Dnd41	blood
5	chr5:176925600-176930800	Weak transcription	Lung	lung
6	chr5:176925600-176930800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:176925600-176934400	Weak transcription	Pancreas	Pancrea
8	chr5:176925600-176942400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:176925800-176930400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:176925800-176935200	Weak transcription	Colonic Mucosa	Colon
11	chr5:176925800-176936400	Weak transcription	Psoas Muscle	Psoas
12	chr5:176925800-176937000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:176926000-176937600	Weak transcription	Ovary	ovary
14	chr5:176927000-176942000	Weak transcription	Fetal Kidney	kidney
15	chr5:176927400-176931000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:176927600-176930400	Enhancers	Primary B cells from cord blood	blood
17	chr5:176927600-176931200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:176927800-176930000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:176927800-176930000	Enhancers	Duodenum Mucosa	Duodenum
20	chr5:176927800-176930600	Enhancers	HMEC	breast
21	chr5:176927800-176934800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:176928000-176930000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:176928000-176930000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:176928000-176930400	Weak transcription	Fetal Brain Female	brain
25	chr5:176928000-176936000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:176928000-176937000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:176928000-176937400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:176928000-176937400	Weak transcription	Osteobl	bone
29	chr5:176928000-176937600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:176928000-176937600	Weak transcription	Primary T cells from cord blood	blood
31	chr5:176928000-176938200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:176928200-176930800	Weak transcription	Liver	Liver
33	chr5:176928200-176931000	Weak transcription	Thymus	Thymus
34	chr5:176928200-176931200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr5:176928200-176931600	Weak transcription	Adipose Nuclei	Adipose
36	chr5:176928200-176936400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:176928200-176937400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:176928200-176937400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:176928200-176937600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:176928400-176930800	Weak transcription	Placenta	Placenta
41	chr5:176928400-176931600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:176928400-176931600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:176928400-176934200	Weak transcription	K562	blood
44	chr5:176928400-176934800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:176928400-176935400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:176928400-176935800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:176928400-176936000	Weak transcription	Fetal Lung	lung
48	chr5:176928400-176936200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:176928400-176936200	Weak transcription	Fetal Intestine Large	intestine
50	chr5:176928400-176937000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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