Variant report

Variant	rs11514801
Chromosome Location	chr7:6422248-6422249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6421014..6424482-chr7:6430347..6433930,4	K562	blood:
2	chr7:6421014..6427961-chr7:6430347..6436546,11	K562	blood:
3	chr7:6420136..6422492-chr7:6433519..6436270,2	MCF-7	breast:
4	chr7:6412400..6417963-chr7:6418207..6425853,16	MCF-7	breast:
5	chr7:6421913..6424520-chr7:6475642..6477904,2	MCF-7	breast:
6	chr7:6421340..6424107-chr7:6434003..6435791,2	MCF-7	breast:
7	chr7:6421413..6423710-chr7:6424469..6426937,2	MCF-7	breast:
8	chr7:6420289..6422847-chr7:6423300..6426069,2	K562	blood:

Variant related genes	Relation type
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10261256	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10266716	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1055428	0.85[AMR][1000 genomes]
rs10951982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10951983	0.90[AMR][1000 genomes]
rs1123675	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11514802	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11514804	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11760556	0.84[ASN][1000 genomes]
rs11760562	0.84[ASN][1000 genomes]
rs11763354	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767078	0.84[ASN][1000 genomes]
rs11772942	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12532493	0.84[ASN][1000 genomes]
rs12535659	0.83[ASN][1000 genomes]
rs12536544	0.80[EUR][1000 genomes]
rs12537483	0.84[ASN][1000 genomes]
rs12537894	0.82[ASN][1000 genomes]
rs12538142	0.84[ASN][1000 genomes]
rs12539027	0.83[ASN][1000 genomes]
rs13221129	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13235365	0.80[ASN][1000 genomes]
rs17196595	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1880118	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2272157	0.84[ASN][1000 genomes]
rs2303361	0.85[AMR][1000 genomes]
rs2347339	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33986000	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs33986648	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33999234	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34106847	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34414425	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34884077	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35277609	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35444732	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35733871	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35745599	0.86[AMR][1000 genomes]
rs3729790	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3750038	0.84[ASN][1000 genomes]
rs3828944	0.85[AMR][1000 genomes]
rs4724800	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4724801	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4724802	0.88[AMR][1000 genomes]
rs4724803	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4724804	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4724806	0.83[AMR][1000 genomes]
rs58072643	0.84[ASN][1000 genomes]
rs71524068	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs71531381	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71531384	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71531392	0.82[ASN][1000 genomes]
rs7455288	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7456834	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7797644	0.85[AMR][1000 genomes]
rs836545	0.81[AMR][1000 genomes]
rs9374	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11514801	DAGLB	cis	Whole Blood	GTEx
rs11514801	DAGLB	cis	Nerve Tibial	GTEx
rs11514801	DAGLB	cis	Adipose Subcutaneous	GTEx
rs11514801	DAGLB	cis	Thyroid	GTEx
rs11514801	RAC1	Cis_1M	lymphoblastoid	RTeQTL
rs11514801	DAGLB	cis	Artery Tibial	GTEx
rs11514801	DAGLB	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6415600-6423800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:6415800-6422400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:6415800-6422600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:6415800-6427400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:6416000-6424800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:6416200-6422600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:6416400-6422400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:6416600-6423800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:6417000-6422400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:6417000-6427400	Weak transcription	Thymus	Thymus
11	chr7:6417200-6422600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:6417200-6426400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:6417200-6435400	Weak transcription	Fetal Brain Male	brain
14	chr7:6417600-6422400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:6417600-6423000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:6417800-6422400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:6417800-6422600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:6417800-6423800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:6417800-6423800	Weak transcription	Fetal Lung	lung
20	chr7:6417800-6424800	Weak transcription	Brain Germinal Matrix	brain
21	chr7:6417800-6425400	Weak transcription	Fetal Brain Female	brain
22	chr7:6418600-6423800	Enhancers	Primary B cells from peripheral blood	blood
23	chr7:6418600-6425200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr7:6418800-6422400	Strong transcription	Fetal Intestine Small	intestine
25	chr7:6419000-6422400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:6419000-6423800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:6419000-6427000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:6419200-6426200	Enhancers	Adipose Nuclei	Adipose
29	chr7:6419400-6423200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:6419400-6426000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:6419400-6426400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr7:6419600-6423200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr7:6419600-6423600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:6419600-6423800	Genic enhancers	Hela-S3	cervix
35	chr7:6419600-6424800	Enhancers	Stomach Mucosa	stomach
36	chr7:6419600-6425800	Enhancers	Brain Anterior Caudate	brain
37	chr7:6419600-6426000	Enhancers	Colon Smooth Muscle	Colon
38	chr7:6419600-6426200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr7:6419600-6426600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr7:6419800-6422600	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:6419800-6422800	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:6419800-6423800	Weak transcription	Fetal Intestine Large	intestine
43	chr7:6419800-6423800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:6419800-6424200	Enhancers	Brain Cingulate Gyrus	brain
45	chr7:6419800-6424600	Weak transcription	HSMMtube	muscle
46	chr7:6419800-6425000	Weak transcription	Aorta	Aorta
47	chr7:6419800-6425000	Weak transcription	Fetal Kidney	kidney
48	chr7:6420000-6422600	Weak transcription	Right Ventricle	heart
49	chr7:6420000-6422600	Weak transcription	HMEC	breast
50	chr7:6420000-6423200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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