Variant report

Variant	rs12535659
Chromosome Location	chr7:6476915-6476916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6474092..6477009-chr7:6483600..6487126,3	K562	blood:
2	chr7:6475431..6480249-chr7:6480514..6484908,6	MCF-7	breast:
3	chr7:6474528..6479669-chr7:6479864..6485085,5	MCF-7	breast:
4	chr7:6421913..6424520-chr7:6475642..6477904,2	MCF-7	breast:
5	chr7:6475514..6477086-chr7:6478544..6480685,2	K562	blood:
6	chr7:6475500..6479513-chr7:6485529..6489482,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164535	Chromatin interaction

Extended variants
information (count: 67 )
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];0.86[ASN][1000 genomes]
rs10951982	0.83[ASN][1000 genomes]
rs10951983	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1123675	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11514801	0.83[ASN][1000 genomes]
rs11514802	0.83[ASN][1000 genomes]
rs11514804	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11760556	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11760562	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11763354	0.83[ASN][1000 genomes]
rs11767078	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11772942	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532493	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12537483	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12537894	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12538142	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12539027	0.97[ASN][1000 genomes]
rs13221129	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13235365	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17196595	0.82[ASN][1000 genomes]
rs1880118	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2272157	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288153	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2303361	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2347339	0.83[ASN][1000 genomes]
rs33986000	0.84[AMR][1000 genomes]
rs33986648	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs33999234	0.82[ASN][1000 genomes]
rs34106847	0.82[ASN][1000 genomes]
rs34414425	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34421596	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34884077	0.83[ASN][1000 genomes]
rs35277609	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35444732	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35733871	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35745599	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3729790	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3750037	0.80[EUR][1000 genomes]
rs3750038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3828944	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4724801	0.82[ASN][1000 genomes]
rs4724802	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4724803	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4724804	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4724806	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58072643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71524068	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71531384	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs71531392	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7455288	0.82[ASN][1000 genomes]
rs7456834	0.82[ASN][1000 genomes]
rs7797644	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7807755	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs836545	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs836546	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9374	0.91[AMR][1000 genomes];0.89[ASN][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	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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs12535659	DAGLB	cis	Adipose Subcutaneous	GTEx
rs12535659	DAGLB	cis	Nerve Tibial	GTEx
rs12535659	DAGLB	cis	lung	GTEx
rs12535659	DAGLB	cis	Skin Sun Exposed Lower leg	GTEx
rs12535659	DAGLB	cis	Thyroid	GTEx
rs12535659	DAGLB	cis	Whole Blood	GTEx
rs12535659	DAGLB	cis	Artery Tibial	GTEx
rs12535659	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	chr7:6439800-6477400	Strong transcription	Fetal Intestine Small	intestine
2	chr7:6453000-6486800	Weak transcription	Small Intestine	intestine
3	chr7:6453600-6483200	Weak transcription	Fetal Kidney	kidney
4	chr7:6456800-6486800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:6459600-6478400	Weak transcription	Psoas Muscle	Psoas
6	chr7:6461800-6478000	Weak transcription	HUVEC	blood vessel
7	chr7:6464600-6481600	Weak transcription	Stomach Mucosa	stomach
8	chr7:6465000-6477200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:6465000-6486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:6465600-6478200	Weak transcription	Right Ventricle	heart
11	chr7:6465800-6486400	Weak transcription	Colonic Mucosa	Colon
12	chr7:6466000-6481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:6466000-6486400	Weak transcription	Aorta	Aorta
14	chr7:6467600-6481400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:6469200-6478000	Weak transcription	HSMMtube	muscle
16	chr7:6472000-6481400	Weak transcription	Ovary	ovary
17	chr7:6472800-6481600	Weak transcription	Fetal Lung	lung
18	chr7:6473400-6477200	Genic enhancers	Hela-S3	cervix
19	chr7:6474200-6478200	Weak transcription	Left Ventricle	heart
20	chr7:6474200-6481600	Weak transcription	Fetal Brain Male	brain
21	chr7:6474400-6478200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:6474400-6481400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:6474400-6481400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:6474400-6481400	Weak transcription	Gastric	stomach
25	chr7:6474400-6481600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:6474600-6481400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:6474600-6481400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:6474600-6481400	Weak transcription	Lung	lung
29	chr7:6474600-6481400	Weak transcription	HMEC	breast
30	chr7:6474600-6481400	Weak transcription	NH-A	brain
31	chr7:6474600-6481600	Weak transcription	Spleen	Spleen
32	chr7:6474800-6478400	Weak transcription	Fetal Brain Female	brain
33	chr7:6474800-6479000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:6474800-6479000	Weak transcription	Fetal Intestine Large	intestine
35	chr7:6474800-6481400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:6474800-6481400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:6474800-6481400	Weak transcription	NHLF	lung
38	chr7:6475000-6479000	Weak transcription	Fetal Stomach	stomach
39	chr7:6475000-6479400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr7:6475200-6479200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:6475200-6480600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr7:6475400-6477200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:6475400-6477400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:6475400-6478200	Weak transcription	Right Atrium	heart
45	chr7:6475400-6478400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr7:6475400-6478600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:6475400-6478800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:6475400-6480600	Weak transcription	Brain Germinal Matrix	brain
49	chr7:6475400-6481200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:6475400-6481400	Weak transcription	H1 Cell Line	embryonic stem cell

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