Variant report

Variant	rs11765886
Chromosome Location	chr7:69238158-69238159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1008379	0.82[ASN][1000 genomes]
rs10085775	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1014382	0.94[ASN][1000 genomes]
rs10237145	0.98[ASN][1000 genomes]
rs10241485	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12333508	0.83[ASN][1000 genomes]
rs12698812	0.85[ASN][1000 genomes]
rs12698814	0.85[ASN][1000 genomes]
rs12698815	0.89[ASN][1000 genomes]
rs12698820	0.83[ASN][1000 genomes]
rs13228464	0.80[ASN][1000 genomes]
rs13232095	0.84[ASN][1000 genomes]
rs13236841	0.87[ASN][1000 genomes]
rs1468588	0.83[ASN][1000 genomes]
rs17353815	0.91[ASN][1000 genomes]
rs17458097	0.90[ASN][1000 genomes]
rs2058395	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs210598	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs210600	0.98[ASN][1000 genomes]
rs210603	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2159679	0.82[ASN][1000 genomes]
rs2253711	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs2533432	0.94[ASN][1000 genomes]
rs2533434	0.93[ASN][1000 genomes]
rs2533440	0.83[ASN][1000 genomes]
rs2533446	0.83[ASN][1000 genomes]
rs2533447	0.83[ASN][1000 genomes]
rs2851485	0.83[ASN][1000 genomes]
rs2851488	0.94[ASN][1000 genomes]
rs2851500	0.83[ASN][1000 genomes]
rs2851504	0.84[ASN][1000 genomes]
rs2851509	0.83[ASN][1000 genomes]
rs2851512	0.83[ASN][1000 genomes]
rs2851517	0.94[ASN][1000 genomes]
rs2903097	0.81[ASN][1000 genomes]
rs34249708	0.81[ASN][1000 genomes]
rs35322474	0.80[ASN][1000 genomes]
rs4717521	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs521259	0.98[ASN][1000 genomes]
rs563740	0.94[ASN][1000 genomes]
rs585282	0.83[JPT][hapmap]
rs588004	0.94[ASN][1000 genomes]
rs595681	0.81[JPT][hapmap]
rs60739014	0.96[ASN][1000 genomes]
rs608796	0.94[ASN][1000 genomes]
rs610930	0.81[JPT][hapmap]
rs611052	0.94[ASN][1000 genomes]
rs611573	0.94[ASN][1000 genomes]
rs622767	0.94[ASN][1000 genomes]
rs624626	0.94[ASN][1000 genomes]
rs6460528	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs674865	0.94[ASN][1000 genomes]
rs6955815	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6957302	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6959766	0.94[ASN][1000 genomes]
rs6963101	0.81[ASN][1000 genomes]
rs6974004	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs720056	0.83[ASN][1000 genomes]
rs763759	0.90[ASN][1000 genomes]
rs7781403	0.96[ASN][1000 genomes]
rs7793984	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7801117	0.83[JPT][hapmap]
rs7808773	0.82[ASN][1000 genomes]
rs917616	0.94[ASN][1000 genomes]
rs9332399	0.83[JPT][hapmap]
rs9638575	0.89[ASN][1000 genomes]
rs981291	0.83[ASN][1000 genomes]
rs988282	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3394718	chr7:69194534-69238432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1027399	chr7:69197011-69239721	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv538918	chr7:69197011-69239721	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
IgG glycosylation	23382691	GWAS catalog

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69225200-69238800	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69229800-69238600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:69233600-69240600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:69234000-69238600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:69234000-69238800	Weak transcription	Left Ventricle	heart
6	chr7:69234200-69238600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:69234600-69238400	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:69234800-69238600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:69234800-69238600	Weak transcription	Pancreas	Pancrea
10	chr7:69234800-69245800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:69235000-69238200	Weak transcription	Brain Substantia Nigra	brain
12	chr7:69235000-69238600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:69235000-69238600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:69235600-69238600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:69235600-69238600	Weak transcription	Fetal Heart	heart
16	chr7:69235800-69238200	Weak transcription	Brain Germinal Matrix	brain
17	chr7:69235800-69242000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:69236200-69238200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:69236200-69242800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:69236200-69243400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:69236400-69239200	Enhancers	Ovary	ovary
22	chr7:69236600-69238200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:69236600-69238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:69236600-69238200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:69236800-69238200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:69236800-69238600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:69237000-69239200	Enhancers	Colon Smooth Muscle	Colon
28	chr7:69237000-69239400	Enhancers	Adipose Nuclei	Adipose
29	chr7:69237200-69239200	Enhancers	A549	lung
30	chr7:69237200-69239200	Enhancers	NHEK	skin
31	chr7:69237400-69238400	Weak transcription	Right Atrium	heart
32	chr7:69237400-69239000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:69237400-69239200	Enhancers	Rectal Smooth Muscle	rectum
34	chr7:69237400-69239400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:69237400-69240800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:69237400-69246400	Weak transcription	Fetal Lung	lung
37	chr7:69237600-69238200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:69237600-69239200	Enhancers	Fetal Stomach	stomach
39	chr7:69237800-69238600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:69237800-69238800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr7:69237800-69239200	Enhancers	Stomach Smooth Muscle	stomach
42	chr7:69237800-69246400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:69238000-69239200	Enhancers	Fetal Muscle Leg	muscle
44	chr7:69238000-69241000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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