Variant report

Variant	rs2347339
Chromosome Location	chr7:6423724-6423725
allele	C/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	chr7:6386938..6388709-chr7:6422840..6425617,3	MCF-7	breast:
3	chr7:6421014..6427961-chr7:6430347..6436546,11	K562	blood:
4	chr7:6423125..6425686-chr7:6428295..6430313,2	K562	blood:
5	chr7:6412400..6417963-chr7:6418207..6425853,16	MCF-7	breast:
6	chr7:6420289..6422847-chr7:6423300..6426069,2	K562	blood:
7	chr7:6421913..6424520-chr7:6475642..6477904,2	MCF-7	breast:
8	chr7:6421340..6424107-chr7:6434003..6435791,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178397	Chromatin interaction
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10261256	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs10266716	0.84[ASN][1000 genomes]
rs1055428	0.85[AMR][1000 genomes]
rs10951982	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10951983	0.85[CEU][hapmap];0.90[AMR][1000 genomes]
rs1123675	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11514801	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11514802	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11514804	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[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];0.89[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	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs12537483	0.84[ASN][1000 genomes]
rs12537894	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12538142	1.00[CHB][hapmap];1.00[JPT][hapmap];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	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1880118	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2272157	0.84[ASN][1000 genomes]
rs2303361	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs33986000	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs33986648	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33999234	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34106847	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34414425	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34884077	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35745599	0.86[AMR][1000 genomes]
rs3729790	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]
rs3750038	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3828944	0.90[JPT][hapmap];0.85[AMR][1000 genomes]
rs4720672	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs4724800	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs4724801	0.85[AMR][1000 genomes];0.91[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	0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs58072643	0.84[ASN][1000 genomes]
rs71524068	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs71531381	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71531384	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71531392	0.82[ASN][1000 genomes]
rs7455288	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7456834	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7797644	0.85[AMR][1000 genomes]
rs836472	0.86[CEU][hapmap]
rs836545	0.81[AMR][1000 genomes]
rs836548	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs9374	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[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
rs2347339	DAGLB	cis	Artery Tibial	GTEx
rs2347339	RAC1	Cis_1M	lymphoblastoid	RTeQTL
rs2347339	DAGLB	cis	Skin Sun Exposed Lower leg	GTEx
rs2347339	DAGLB	cis	Adipose Subcutaneous	GTEx
rs2347339	DAGLB	cis	Whole Blood	GTEx
rs2347339	DAGLB	cis	Nerve Tibial	GTEx
rs2347339	DAGLB	cis	Thyroid	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	chr7:6415800-6427400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:6416000-6424800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:6416600-6423800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:6417000-6427400	Weak transcription	Thymus	Thymus
6	chr7:6417200-6426400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:6417200-6435400	Weak transcription	Fetal Brain Male	brain
8	chr7:6417800-6423800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:6417800-6423800	Weak transcription	Fetal Lung	lung
10	chr7:6417800-6424800	Weak transcription	Brain Germinal Matrix	brain
11	chr7:6417800-6425400	Weak transcription	Fetal Brain Female	brain
12	chr7:6418600-6423800	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:6418600-6425200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:6419000-6423800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:6419000-6427000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:6419200-6426200	Enhancers	Adipose Nuclei	Adipose
17	chr7:6419400-6426000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:6419400-6426400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr7:6419600-6423800	Genic enhancers	Hela-S3	cervix
20	chr7:6419600-6424800	Enhancers	Stomach Mucosa	stomach
21	chr7:6419600-6425800	Enhancers	Brain Anterior Caudate	brain
22	chr7:6419600-6426000	Enhancers	Colon Smooth Muscle	Colon
23	chr7:6419600-6426200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr7:6419600-6426600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr7:6419800-6423800	Weak transcription	Fetal Intestine Large	intestine
26	chr7:6419800-6423800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:6419800-6424200	Enhancers	Brain Cingulate Gyrus	brain
28	chr7:6419800-6424600	Weak transcription	HSMMtube	muscle
29	chr7:6419800-6425000	Weak transcription	Aorta	Aorta
30	chr7:6419800-6425000	Weak transcription	Fetal Kidney	kidney
31	chr7:6420000-6423800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:6420000-6426000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr7:6420200-6424800	Weak transcription	Fetal Heart	heart
34	chr7:6420400-6423800	Weak transcription	NH-A	brain
35	chr7:6420400-6423800	Weak transcription	Osteobl	bone
36	chr7:6420600-6423800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:6420600-6423800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:6420600-6423800	Enhancers	K562	blood
39	chr7:6420600-6426000	Enhancers	Placenta	Placenta
40	chr7:6420600-6426000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr7:6421000-6423800	Genic enhancers	NHEK	skin
42	chr7:6421200-6426200	Enhancers	Left Ventricle	heart
43	chr7:6421400-6424400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr7:6421400-6427400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:6421600-6423800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:6421600-6423800	Enhancers	Colonic Mucosa	Colon
47	chr7:6421600-6423800	Enhancers	Spleen	Spleen
48	chr7:6421600-6424200	Genic enhancers	Muscle Satellite Cultured Cells	--
49	chr7:6421800-6423800	Enhancers	Primary B cells from cord blood	blood
50	chr7:6421800-6424600	Enhancers	Lung	lung

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