Variant report

Variant	rs7622833
Chromosome Location	chr3:136041921-136041922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs28396702	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28812220	0.93[EUR][1000 genomes]
rs34165586	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34523567	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35058853	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35375192	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5026242	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55797013	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56251259	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6439638	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67214626	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6766450	0.83[EUR][1000 genomes]
rs6776841	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6783337	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6785225	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6804194	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9809184	0.81[EUR][1000 genomes]
rs9811261	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9811490	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9812513	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9819496	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9826146	0.93[EUR][1000 genomes]
rs9831321	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9833162	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9843348	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9843801	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9850383	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9853387	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854328	0.81[EUR][1000 genomes]
rs9860801	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9868120	0.82[EUR][1000 genomes]
rs9872326	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv4025	chr3:136017458-136065622	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv877519	chr3:136035737-136279390	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135981200-136052000	Weak transcription	NH-A	brain
2	chr3:135999800-136061200	Weak transcription	Hela-S3	cervix
3	chr3:136016800-136045600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:136018200-136051400	Weak transcription	A549	lung
5	chr3:136020200-136045200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:136020400-136045200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:136020400-136045200	Weak transcription	Colonic Mucosa	Colon
8	chr3:136020600-136045000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:136020600-136045200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:136020800-136042200	Weak transcription	Placenta	Placenta
11	chr3:136020800-136043000	Weak transcription	HSMM	muscle
12	chr3:136020800-136045000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:136021000-136045400	Weak transcription	Gastric	stomach
14	chr3:136021000-136045600	Weak transcription	Osteobl	bone
15	chr3:136032800-136055400	Weak transcription	HUVEC	blood vessel
16	chr3:136036400-136044200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:136036800-136043400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:136037000-136045200	Weak transcription	Brain Angular Gyrus	brain
19	chr3:136037200-136045200	Weak transcription	Fetal Stomach	stomach
20	chr3:136037600-136045200	Weak transcription	K562	blood
21	chr3:136037600-136045400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr3:136037800-136042200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:136038000-136042600	ZNF genes & repeats	Dnd41	blood
24	chr3:136038200-136042800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr3:136038200-136043000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:136038400-136042200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr3:136038400-136043200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:136038400-136043800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:136038600-136042200	Weak transcription	Fetal Thymus	thymus
30	chr3:136038600-136042600	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr3:136038600-136043400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr3:136038800-136042200	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr3:136038800-136042200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:136038800-136042400	ZNF genes & repeats	Primary B cells from cord blood	blood
35	chr3:136038800-136042400	ZNF genes & repeats	Liver	Liver
36	chr3:136038800-136043000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
37	chr3:136039000-136042000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:136039000-136072400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:136039200-136062400	Weak transcription	Fetal Heart	heart
40	chr3:136039800-136042600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr3:136039800-136043400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr3:136040000-136042200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
43	chr3:136040200-136045000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:136040200-136046800	Weak transcription	NHEK	skin
45	chr3:136040200-136051200	Weak transcription	NHDF-Ad	bronchial
46	chr3:136040400-136042200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:136040400-136045200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:136040400-136046400	Weak transcription	Colon Smooth Muscle	Colon
49	chr3:136040400-136062800	Weak transcription	Stomach Mucosa	stomach
50	chr3:136040600-136042000	Weak transcription	Left Ventricle	heart

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