Variant report

Variant	rs17196595
Chromosome Location	chr7:6418378-6418379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6412400..6417963-chr7:6418207..6425853,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10261256	0.84[ASN][1000 genomes]
rs10266716	0.83[ASN][1000 genomes]
rs1055428	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10951982	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10951983	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1123675	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11514801	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11514802	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11514804	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11760556	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11760562	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11763354	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11767078	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11772942	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12532493	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12535659	0.82[ASN][1000 genomes]
rs12537483	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12537894	0.82[ASN][1000 genomes]
rs12538142	0.83[ASN][1000 genomes]
rs12539027	0.83[ASN][1000 genomes]
rs13221129	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1880118	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2272157	0.83[ASN][1000 genomes]
rs2303361	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2347339	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33986000	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs33986648	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33999234	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34106847	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34414425	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34884077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35277609	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35444732	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35733871	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35745599	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3729790	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3750038	0.83[ASN][1000 genomes]
rs3828944	0.85[AMR][1000 genomes]
rs4724800	0.84[ASN][1000 genomes]
rs4724801	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4724802	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4724803	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4724804	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4724806	0.83[AMR][1000 genomes]
rs58072643	0.83[ASN][1000 genomes]
rs71524068	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71531381	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71531384	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71531392	0.82[ASN][1000 genomes]
rs7455288	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7456834	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797644	0.85[AMR][1000 genomes]
rs836545	0.81[AMR][1000 genomes]
rs9374	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[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
rs17196595	DAGLB	cis	Thyroid	GTEx
rs17196595	RAC1	Cis_1M	lymphoblastoid	RTeQTL
rs17196595	DAGLB	cis	Skin Sun Exposed Lower leg	GTEx
rs17196595	DAGLB	cis	Whole Blood	GTEx
rs17196595	DAGLB	cis	Nerve Tibial	GTEx
rs17196595	DAGLB	cis	Adipose Subcutaneous	GTEx
rs17196595	DAGLB	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 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	chr7:6415800-6418800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:6415800-6419400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:6415800-6419400	Weak transcription	Aorta	Aorta
5	chr7:6415800-6419600	Weak transcription	HSMMtube	muscle
6	chr7:6415800-6422400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:6415800-6422600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:6415800-6427400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:6416000-6418400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:6416000-6418400	Enhancers	Primary T cells from cord blood	blood
11	chr7:6416000-6419600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:6416000-6424800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:6416200-6418800	Enhancers	Primary B cells from cord blood	blood
14	chr7:6416200-6421200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:6416200-6422600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:6416400-6418400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr7:6416400-6420600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:6416400-6422400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:6416600-6423800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:6416800-6418600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
21	chr7:6416800-6418600	Enhancers	Right Ventricle	heart
22	chr7:6416800-6418800	Genic enhancers	Fetal Intestine Small	intestine
23	chr7:6416800-6419200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:6416800-6419400	Weak transcription	NH-A	brain
25	chr7:6416800-6419600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:6417000-6418400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:6417000-6419600	Weak transcription	HMEC	breast
28	chr7:6417000-6419600	Weak transcription	NHLF	lung
29	chr7:6417000-6421800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:6417000-6422400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:6417000-6427400	Weak transcription	Thymus	Thymus
32	chr7:6417200-6418400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:6417200-6418600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:6417200-6418600	Enhancers	Stomach Mucosa	stomach
35	chr7:6417200-6419000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:6417200-6419600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:6417200-6419600	Weak transcription	HSMM	muscle
38	chr7:6417200-6419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr7:6417200-6419800	Enhancers	Ovary	ovary
40	chr7:6417200-6421400	Enhancers	Psoas Muscle	Psoas
41	chr7:6417200-6422600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:6417200-6426400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:6417200-6435400	Weak transcription	Fetal Brain Male	brain
44	chr7:6417400-6418400	Genic enhancers	A549	lung
45	chr7:6417400-6418600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr7:6417400-6419400	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr7:6417400-6421600	Weak transcription	Esophagus	oesophagus
48	chr7:6417600-6418400	Weak transcription	Lung	lung
49	chr7:6417600-6418400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr7:6417600-6418800	Enhancers	Liver	Liver

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