Variant report

Variant	rs4724806
Chromosome Location	chr7:6487131-6487132
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6485398..6489202-chr7:6520855..6525273,5	MCF-7	breast:
2	chr7:6486176..6487864-chr7:6615659..6618201,2	MCF-7	breast:
3	chr7:6412857..6414877-chr7:6485942..6488132,2	MCF-7	breast:
4	chr7:6486201..6489628-chr7:6522463..6525039,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136238	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000136247	Chromatin interaction
ENSG00000269781	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1055428	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10951982	0.81[CHB][hapmap];0.83[AMR][1000 genomes]
rs10951983	0.93[AMR][1000 genomes]
rs1123675	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11514801	0.83[AMR][1000 genomes]
rs11514802	0.81[AMR][1000 genomes]
rs11514804	0.85[AMR][1000 genomes]
rs11760556	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11760562	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11763354	0.83[AMR][1000 genomes]
rs11767078	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11772942	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12532493	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12535659	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12537483	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12537894	0.86[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12538142	0.86[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13221129	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17196595	0.83[AMR][1000 genomes]
rs1880118	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs2272157	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2288153	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2303361	0.80[CEU][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2347339	0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs33986000	0.88[AMR][1000 genomes]
rs33986648	0.88[AMR][1000 genomes]
rs34414425	0.85[AMR][1000 genomes]
rs34421596	0.85[EUR][1000 genomes]
rs34884077	0.83[AMR][1000 genomes]
rs35277609	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35444732	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35733871	0.85[AMR][1000 genomes]
rs35745599	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3729790	0.82[YRI][hapmap];0.85[AMR][1000 genomes]
rs3750037	0.85[EUR][1000 genomes]
rs3750038	0.86[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3828944	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720672	1.00[YRI][hapmap]
rs4724802	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4724803	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4724804	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58072643	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71524068	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71531384	0.85[AMR][1000 genomes]
rs71531392	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7455288	0.83[AMR][1000 genomes]
rs7456834	0.84[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs7797644	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807755	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7810332	0.82[EUR][1000 genomes]
rs7810553	0.95[CHB][hapmap]
rs836506	0.82[ASN][1000 genomes]
rs836545	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs836546	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9374	0.83[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription 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	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv971152	chr7:6485642-6509340	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4724806	DAGLB	cis	Nerve Tibial	GTEx
rs4724806	DAGLB	cis	Adipose Subcutaneous	GTEx
rs4724806	DAGLB	cis	Whole Blood	GTEx
rs4724806	RAC1	Cis_1M	lymphoblastoid	RTeQTL
rs4724806	DAGLB	cis	Skin Sun Exposed Lower leg	GTEx
rs4724806	DAGLB	cis	Artery Tibial	GTEx
rs4724806	DAGLB	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6486200-6487200	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr7:6486200-6487200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr7:6486200-6487200	Active TSS	Brain Germinal Matrix	brain
4	chr7:6486200-6487400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:6486200-6488200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:6486200-6488400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr7:6486200-6488400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:6486200-6488400	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr7:6486200-6488400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:6486200-6488400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:6486200-6488800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:6486200-6489200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:6486400-6487200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr7:6486400-6487200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:6486400-6487200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:6486400-6487200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr7:6486400-6487200	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr7:6486400-6487400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr7:6486400-6487400	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr7:6486400-6487400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr7:6486400-6487400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr7:6486400-6487600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr7:6486400-6488200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:6486400-6488200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:6486400-6488200	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr7:6486400-6488200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr7:6486400-6488200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr7:6486400-6488200	Active TSS	HMEC	breast
29	chr7:6486400-6488200	Active TSS	HSMM	muscle
30	chr7:6486400-6488200	Active TSS	NHDF-Ad	bronchial
31	chr7:6486400-6488400	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr7:6486400-6488600	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr7:6486400-6488600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:6486400-6488600	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr7:6486400-6488600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:6486400-6488800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:6486400-6488800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:6486400-6488800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr7:6486600-6487200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr7:6486600-6487200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:6486600-6487200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr7:6486600-6487200	Flanking Active TSS	Liver	Liver
43	chr7:6486600-6488200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:6486600-6488200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:6486600-6488200	Active TSS	Fetal Intestine Large	intestine
46	chr7:6486600-6488200	Active TSS	Lung	lung
47	chr7:6486600-6488200	Active TSS	Ovary	ovary
48	chr7:6486600-6488200	Active TSS	Psoas Muscle	Psoas
49	chr7:6486600-6488200	Active TSS	NH-A	brain
50	chr7:6486600-6488200	Active TSS	NHEK	skin

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