Variant report

Variant	rs12537483
Chromosome Location	chr7:6461965-6461966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:6461226-6462504	HL-60	blood:	n/a	n/a
2	POLR2A	chr7:6461216-6462754	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr7:6461399-6462031	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6454958..6457155-chr7:6459947..6462538,2	MCF-7	breast:
2	chr7:6459412..6462059-chr7:6463875..6466225,2	K562	blood:

Variant related genes	Relation type
DAGLB	TF binding region
ENSG00000164535	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1055428	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10951982	0.84[ASN][1000 genomes]
rs10951983	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1123675	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11514801	0.84[ASN][1000 genomes]
rs11514802	0.84[ASN][1000 genomes]
rs11514804	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11760556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11760562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763354	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11767078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772942	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12532493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535659	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12537894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12538142	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539027	0.99[ASN][1000 genomes]
rs13221129	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13235365	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17196595	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1880118	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2272157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288153	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2303361	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2347339	0.84[ASN][1000 genomes]
rs33986000	0.84[AMR][1000 genomes]
rs33986648	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs33999234	0.83[ASN][1000 genomes]
rs34106847	0.83[ASN][1000 genomes]
rs34414425	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34421596	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34884077	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35277609	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35444732	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35733871	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35745599	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3729790	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3750038	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828944	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4724801	0.83[ASN][1000 genomes]
rs4724802	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4724803	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4724804	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4724806	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58072643	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71524068	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71531381	0.82[ASN][1000 genomes]
rs71531384	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71531392	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7455288	0.83[ASN][1000 genomes]
rs7456834	0.83[ASN][1000 genomes]
rs7797644	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7807755	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs836545	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs836546	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9374	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
10	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
11	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
12	nsv606000	chr7:6446027-6477002	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv887428	chr7:6449496-6463905	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3331508	chr7:6460277-6462225	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs12537483	DAGLB	cis	Skin Sun Exposed Lower leg	GTEx
rs12537483	DAGLB	cis	Nerve Tibial	GTEx
rs12537483	DAGLB	cis	Adipose Subcutaneous	GTEx
rs12537483	RAC1	Cis_1M	lymphoblastoid	RTeQTL
rs12537483	DAGLB	cis	lung	GTEx
rs12537483	DAGLB	cis	Thyroid	GTEx
rs12537483	DAGLB	cis	Whole Blood	GTEx
rs12537483	DAGLB	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:6437600-6470400	Strong transcription	Fetal Brain Female	brain
3	chr7:6438000-6462400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:6438600-6475600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:6438800-6462800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:6439600-6472400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:6439800-6477400	Strong transcription	Fetal Intestine Small	intestine
10	chr7:6440200-6464600	Weak transcription	Right Atrium	heart
11	chr7:6441200-6471400	Strong transcription	Brain Germinal Matrix	brain
12	chr7:6443800-6465200	Weak transcription	Fetal Heart	heart
13	chr7:6443800-6475000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:6444000-6474600	Strong transcription	Lung	lung
15	chr7:6448600-6470000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:6450400-6475000	Strong transcription	Fetal Stomach	stomach
17	chr7:6452800-6475000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:6453000-6463600	Weak transcription	GM12878-XiMat	blood
19	chr7:6453000-6486800	Weak transcription	Small Intestine	intestine
20	chr7:6453600-6483200	Weak transcription	Fetal Kidney	kidney
21	chr7:6454600-6463600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:6456600-6464400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:6456600-6475200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr7:6456800-6464000	Weak transcription	Stomach Mucosa	stomach
25	chr7:6456800-6486800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:6457000-6464000	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:6457200-6464000	Weak transcription	Primary B cells from cord blood	blood
28	chr7:6457400-6462800	Strong transcription	Placenta	Placenta
29	chr7:6457400-6463400	Weak transcription	HepG2	liver
30	chr7:6457400-6463600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:6457400-6464200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:6457800-6474800	Strong transcription	Thymus	Thymus
33	chr7:6458800-6462400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:6458800-6462400	Strong transcription	Pancreas	Pancrea
35	chr7:6458800-6467600	Strong transcription	Ovary	ovary
36	chr7:6458800-6469200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:6458800-6474800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:6458800-6474800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:6458800-6474800	Strong transcription	Fetal Intestine Large	intestine
40	chr7:6459000-6462200	Strong transcription	Brain Cingulate Gyrus	brain
41	chr7:6459000-6462200	Strong transcription	Colonic Mucosa	Colon
42	chr7:6459000-6462400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr7:6459000-6462600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:6459000-6462800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr7:6459000-6462800	Strong transcription	Right Ventricle	heart
46	chr7:6459000-6463000	Strong transcription	NHEK	skin
47	chr7:6459000-6463400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:6459000-6463600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:6459000-6463600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:6459000-6463800	Strong transcription	Adipose Nuclei	Adipose

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