Variant report

Variant	rs3729790
Chromosome Location	chr7:6426954-6426955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6425587..6427672-chr7:6434203..6435980,2	K562	blood:
2	chr7:6415178..6416975-chr7:6426266..6428182,2	MCF-7	breast:
3	chr7:6421014..6427961-chr7:6430347..6436546,11	K562	blood:
4	chr7:6425039..6427961-chr7:6431283..6434070,6	K562	blood:
5	chr7:6408313..6409948-chr7:6425652..6428069,2	MCF-7	breast:
6	chr7:6423770..6428087-chr7:6429749..6432812,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10261256	0.89[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs10266716	0.83[ASN][1000 genomes]
rs1055428	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10951982	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10951983	0.89[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1123675	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11514801	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11514802	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11514804	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11760556	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11760562	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11763354	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11767078	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11772942	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12532493	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12535659	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12536544	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs12537483	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12537894	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12538142	0.89[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12539027	0.82[ASN][1000 genomes]
rs13221129	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13244632	0.83[MEX][hapmap]
rs17196595	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1880118	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2272157	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2303361	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2347339	0.93[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33986000	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs33986648	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33999234	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34106847	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34414425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34884077	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35277609	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35444732	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35733871	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35745599	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3750038	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3828944	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]
rs4720672	1.00[ASW][hapmap];0.96[GIH][hapmap];0.85[YRI][hapmap]
rs4724800	0.89[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs4724801	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4724802	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4724803	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4724804	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4724806	0.82[YRI][hapmap];0.85[AMR][1000 genomes]
rs58072643	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs71524068	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71531381	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71531384	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71531392	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7455288	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7456834	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7797644	0.86[AMR][1000 genomes]
rs836470	0.80[EUR][1000 genomes]
rs836472	0.84[CEU][hapmap]
rs836545	0.83[AMR][1000 genomes]
rs836548	0.85[CEU][hapmap]
rs9374	1.00[ASW][hapmap];0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

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	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	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv967451	chr7:6417630-6427589	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs3729790	DAGLB	cis	Thyroid	GTEx
rs3729790	DAGLB	cis	Nerve Tibial	GTEx
rs3729790	DAGLB	cis	Skin Sun Exposed Lower leg	GTEx
rs3729790	DAGLB	cis	Artery Tibial	GTEx
rs3729790	DAGLB	cis	Whole Blood	GTEx
rs3729790	DAGLB	cis	Adipose Subcutaneous	GTEx
rs3729790	AIMP2	cis	cerebellum	SCAN
rs3729790	C7orf26	cis	parietal	SCAN
rs3729790	RAC1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6415800-6427400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:6417000-6427400	Weak transcription	Thymus	Thymus
3	chr7:6417200-6435400	Weak transcription	Fetal Brain Male	brain
4	chr7:6419000-6427000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:6421400-6427400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:6422600-6427000	Enhancers	HMEC	breast
7	chr7:6423000-6432400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:6423800-6427800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr7:6424000-6432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:6424000-6432400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:6424600-6431400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:6424800-6427000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:6425200-6427000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:6425400-6432600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:6425600-6427000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:6425600-6427200	Weak transcription	Brain Germinal Matrix	brain
17	chr7:6425600-6427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:6425600-6427400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:6425600-6427600	Enhancers	Stomach Mucosa	stomach
20	chr7:6425600-6427800	Weak transcription	Colonic Mucosa	Colon
21	chr7:6425600-6432200	Weak transcription	Fetal Heart	heart
22	chr7:6425800-6427000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:6425800-6427000	Enhancers	NH-A	brain
24	chr7:6425800-6427200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:6425800-6427200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:6425800-6427200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:6425800-6427400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:6425800-6427400	Weak transcription	Primary T cells from cord blood	blood
29	chr7:6425800-6427400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:6425800-6427400	Weak transcription	Brain Anterior Caudate	brain
31	chr7:6425800-6427600	Weak transcription	Primary B cells from cord blood	blood
32	chr7:6425800-6427600	Weak transcription	Aorta	Aorta
33	chr7:6425800-6427600	Weak transcription	Right Ventricle	heart
34	chr7:6425800-6432600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:6426000-6427000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:6426000-6427000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:6426000-6427000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:6426000-6427000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:6426000-6427000	Weak transcription	Brain Substantia Nigra	brain
40	chr7:6426000-6427000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:6426000-6427000	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:6426000-6427000	Weak transcription	Fetal Stomach	stomach
43	chr7:6426000-6427200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:6426000-6427200	Weak transcription	Colon Smooth Muscle	Colon
45	chr7:6426000-6427400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:6426000-6427400	Weak transcription	Brain Angular Gyrus	brain
47	chr7:6426000-6427400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:6426000-6427400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:6426000-6427400	Weak transcription	Fetal Intestine Large	intestine
50	chr7:6426000-6427400	Weak transcription	Fetal Lung	lung

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