Variant report

Variant	rs34291293
Chromosome Location	chr3:46425647-46425648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1140865	0.95[EUR][1000 genomes]
rs11574428	0.95[EUR][1000 genomes]
rs11574429	0.95[EUR][1000 genomes]
rs11574434	0.95[EUR][1000 genomes]
rs11575821	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2157061	0.95[EUR][1000 genomes]
rs2157062	0.92[EUR][1000 genomes]
rs2856758	0.96[EUR][1000 genomes]
rs3092960	0.86[EUR][1000 genomes]
rs3136535	0.91[EUR][1000 genomes]
rs34445878	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34971514	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35388950	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41490645	0.91[EUR][1000 genomes]
rs4452362	0.80[EUR][1000 genomes]
rs57093591	0.86[EUR][1000 genomes]
rs6770674	0.95[EUR][1000 genomes]
rs6782522	0.95[EUR][1000 genomes]
rs6787972	0.97[EUR][1000 genomes]
rs6791789	0.94[EUR][1000 genomes]
rs6798291	0.95[EUR][1000 genomes]
rs6808835	0.95[EUR][1000 genomes]
rs762790	0.87[EUR][1000 genomes]
rs7652037	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs916094	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2756988	chr3:46419634-46444794	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759146	chr3:46419634-46444794	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv10267	chr3:46423130-46440713	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46420400-46427600	Weak transcription	Pancreas	Pancrea
2	chr3:46421400-46426000	Enhancers	Fetal Lung	lung
3	chr3:46422200-46435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:46422400-46426400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:46422400-46427800	Weak transcription	Esophagus	oesophagus
6	chr3:46422400-46438600	Weak transcription	Psoas Muscle	Psoas
7	chr3:46422600-46427600	Weak transcription	Hela-S3	cervix
8	chr3:46422600-46435200	Weak transcription	Right Atrium	heart
9	chr3:46422800-46429400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:46423000-46426400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:46423000-46427600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:46423000-46427600	Weak transcription	HSMM	muscle
13	chr3:46423000-46427600	Weak transcription	HSMMtube	muscle
14	chr3:46423400-46425800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:46423400-46427400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:46423800-46427400	Weak transcription	NHEK	skin
17	chr3:46424200-46425800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr3:46424400-46425800	Enhancers	Duodenum Mucosa	Duodenum
19	chr3:46424400-46425800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr3:46424400-46426800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:46424400-46427600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:46424400-46428200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr3:46424400-46428200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:46424400-46428200	Enhancers	Fetal Thymus	thymus
25	chr3:46424400-46428800	Enhancers	Primary hematopoietic stem cells	blood
26	chr3:46424600-46425800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:46424600-46425800	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr3:46424600-46426400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr3:46424800-46425800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:46424800-46425800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr3:46424800-46425800	Flanking Active TSS	Dnd41	blood
32	chr3:46424800-46425800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr3:46424800-46426000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:46424800-46426000	Enhancers	HMEC	breast
35	chr3:46424800-46426200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr3:46424800-46426200	Enhancers	Brain Hippocampus Middle	brain
37	chr3:46424800-46426800	Weak transcription	Fetal Intestine Small	intestine
38	chr3:46425000-46425800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr3:46425000-46425800	Enhancers	Fetal Brain Male	brain
40	chr3:46425000-46426000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:46425000-46426400	Weak transcription	Spleen	Spleen
42	chr3:46425000-46426600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:46425200-46425800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:46425200-46425800	Enhancers	Liver	Liver
45	chr3:46425200-46425800	Enhancers	Brain Anterior Caudate	brain
46	chr3:46425200-46425800	Enhancers	Brain Cingulate Gyrus	brain
47	chr3:46425200-46426000	Enhancers	Primary T cells from cord blood	blood
48	chr3:46425200-46426200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr3:46425200-46427000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr3:46425200-46427800	Weak transcription	Colonic Mucosa	Colon

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