Variant report

Variant	rs34097211
Chromosome Location	chr3:119360393-119360394
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11914676	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11923223	0.90[ASN][1000 genomes]
rs12487499	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12488460	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12490779	0.96[ASN][1000 genomes]
rs12492456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403631	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1525836	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16830115	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830291	0.90[ASN][1000 genomes]
rs17203235	0.96[ASN][1000 genomes]
rs1797827	0.95[ASN][1000 genomes]
rs1872432	0.91[ASN][1000 genomes]
rs1985121	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2280578	0.90[ASN][1000 genomes]
rs2670292	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2688629	0.95[ASN][1000 genomes]
rs2688630	0.95[ASN][1000 genomes]
rs2688631	0.95[ASN][1000 genomes]
rs2688634	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2692616	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2698283	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34593263	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34787881	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35043554	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35256565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234662	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4629367	0.90[ASN][1000 genomes]
rs4687869	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4688021	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4688024	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs524043	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs525916	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs540420	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs572119	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs575833	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs579196	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67683909	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6783324	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6789941	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6790938	0.88[ASN][1000 genomes]
rs6792417	0.90[ASN][1000 genomes]
rs6803814	0.90[ASN][1000 genomes]
rs68150601	0.89[ASN][1000 genomes]
rs71325388	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71325389	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7613825	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8422	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9876919	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1796433	chr3:119350324-119360506	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1804126	chr3:119351398-119360506	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv527724	chr3:119353844-119361415	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv520805	chr3:119359045-119361415	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34097211	RP11-190C22.1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119341400-119364600	Weak transcription	Liver	Liver
2	chr3:119349800-119378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:119352000-119378600	Weak transcription	Thymus	Thymus
4	chr3:119352600-119367000	Weak transcription	Ovary	ovary
5	chr3:119354000-119387600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:119354800-119360400	Weak transcription	Lung	lung
7	chr3:119355400-119361000	Weak transcription	Pancreas	Pancrea
8	chr3:119356200-119360800	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:119356200-119389000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:119356800-119360800	Weak transcription	Aorta	Aorta
11	chr3:119356800-119361400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:119356800-119364800	Weak transcription	Stomach Mucosa	stomach
13	chr3:119356800-119390000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:119356800-119391800	Weak transcription	Brain Substantia Nigra	brain
15	chr3:119356800-119391800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:119357200-119361800	Weak transcription	A549	lung
17	chr3:119357200-119383800	Weak transcription	Primary B cells from cord blood	blood
18	chr3:119357800-119360600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:119357800-119360800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr3:119357800-119360800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:119357800-119361800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:119357800-119366600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr3:119357800-119367000	Weak transcription	Fetal Intestine Large	intestine
24	chr3:119357800-119386400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:119358000-119360400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:119358000-119360400	Weak transcription	Fetal Stomach	stomach
27	chr3:119358000-119360800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:119358000-119360800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:119358000-119361000	Weak transcription	Right Ventricle	heart
30	chr3:119358000-119361000	Weak transcription	Spleen	Spleen
31	chr3:119358000-119361800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:119358000-119361800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:119358000-119361800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:119358000-119361800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:119358000-119361800	Weak transcription	NH-A	brain
36	chr3:119358000-119362000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:119358000-119362000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:119358000-119371200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr3:119358000-119390600	Weak transcription	Brain Anterior Caudate	brain
40	chr3:119358000-119391800	Weak transcription	Colonic Mucosa	Colon
41	chr3:119358200-119361200	Weak transcription	NHLF	lung
42	chr3:119358200-119361400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:119358200-119361400	Weak transcription	HSMMtube	muscle
44	chr3:119358200-119361600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:119358200-119362000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:119358200-119362800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr3:119358200-119366200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:119358200-119372600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:119358400-119360400	Weak transcription	Fetal Intestine Small	intestine
50	chr3:119358400-119361000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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