Variant report

Variant	rs3828944
Chromosome Location	chr7:6487156-6487157
allele	A/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
ENSG00000136240	Chromatin interaction
ENSG00000269781	Chromatin interaction
ENSG00000136238	Chromatin interaction
ENSG00000136247	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10261256	0.80[CHD][hapmap];0.94[MEX][hapmap]
rs1055428	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10951982	0.84[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes]
rs10951983	0.88[CEU][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes]
rs1123675	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11514801	0.85[AMR][1000 genomes]
rs11514802	0.83[AMR][1000 genomes]
rs11514804	0.86[AMR][1000 genomes]
rs11760556	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11760562	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11763354	0.84[AMR][1000 genomes]
rs11767078	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11772942	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12532493	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12535659	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12537483	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12537894	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12538142	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13221129	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13244632	0.83[MEX][hapmap]
rs17196595	0.85[AMR][1000 genomes]
rs1880118	0.88[CEU][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes]
rs2272157	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2288153	1.00[ASW][hapmap];1.00[MKK][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2303361	1.00[ASW][hapmap];0.94[CEU][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2347339	0.90[JPT][hapmap];0.85[AMR][1000 genomes]
rs33986000	0.90[AMR][1000 genomes]
rs33986648	0.90[AMR][1000 genomes]
rs33999234	0.81[AMR][1000 genomes]
rs34414425	0.86[AMR][1000 genomes]
rs34421596	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34884077	0.85[AMR][1000 genomes]
rs35277609	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35444732	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35733871	0.86[AMR][1000 genomes]
rs35745599	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3729790	0.89[CEU][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes]
rs3750037	0.85[EUR][1000 genomes]
rs3750038	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4720672	1.00[GIH][hapmap];0.85[YRI][hapmap]
rs4724800	0.80[CHD][hapmap];0.94[MEX][hapmap]
rs4724802	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4724803	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4724804	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4724806	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]
rs58072643	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71524068	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71531384	0.86[AMR][1000 genomes]
rs71531392	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7455288	0.85[AMR][1000 genomes]
rs7456834	0.89[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs7797644	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807755	0.93[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	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs836546	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9374	0.84[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.96[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
rs3828944	DAGLB	cis	Thyroid	GTEx
rs3828944	RAC1	Cis_1M	lymphoblastoid	RTeQTL
rs3828944	DAGLB	cis	Skin Sun Exposed Lower leg	GTEx
rs3828944	DAGLB	cis	Adipose Subcutaneous	GTEx
rs3828944	DAGLB	cis	Nerve Tibial	GTEx
rs3828944	DAGLB	cis	Artery Tibial	GTEx
rs3828944	DAGLB	cis	Whole Blood	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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