Variant report

Variant	rs34290183
Chromosome Location	chr1:155783473-155783474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13375894	1.00[AMR][1000 genomes]
rs13376498	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836971	1.00[AMR][1000 genomes]
rs16837058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57468684	1.00[AMR][1000 genomes]
rs57883269	1.00[AMR][1000 genomes]
rs58774418	1.00[AMR][1000 genomes]
rs59287240	1.00[AMR][1000 genomes]
rs60777355	1.00[AMR][1000 genomes]
rs61375216	1.00[AMR][1000 genomes]
rs6663016	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6699393	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7548199	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7550827	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	43 gene(s)	inside rSNPs	diseases
3	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv872469	chr1:155743310-155810293	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155715400-155789200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:155716000-155793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:155717400-155795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
5	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:155720400-155796800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:155732200-155789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:155746400-155791400	Weak transcription	Stomach Mucosa	stomach
9	chr1:155747600-155787200	Weak transcription	Esophagus	oesophagus
10	chr1:155747800-155785600	Weak transcription	Fetal Brain Male	brain
11	chr1:155747800-155791200	Weak transcription	Fetal Heart	heart
12	chr1:155748000-155789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:155762200-155798000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:155762600-155785000	Strong transcription	Fetal Intestine Small	intestine
15	chr1:155765200-155803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:155765200-155813200	Weak transcription	Psoas Muscle	Psoas
17	chr1:155771400-155798400	Strong transcription	Fetal Muscle Leg	muscle
18	chr1:155771600-155798200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:155772000-155798000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:155772400-155785800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:155773800-155787200	Weak transcription	Brain Substantia Nigra	brain
22	chr1:155774400-155787000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:155775000-155795600	Weak transcription	Small Intestine	intestine
24	chr1:155776000-155796600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr1:155777000-155787200	Weak transcription	Pancreas	Pancrea
26	chr1:155777000-155787400	Weak transcription	Gastric	stomach
27	chr1:155777000-155787400	Weak transcription	Spleen	Spleen
28	chr1:155777200-155795800	Weak transcription	Aorta	Aorta
29	chr1:155778000-155797200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:155778200-155795400	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:155778400-155784200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr1:155778600-155787200	Weak transcription	HSMMtube	muscle
33	chr1:155779000-155783600	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:155779000-155783600	Weak transcription	NHDF-Ad	bronchial
35	chr1:155779000-155783800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:155779200-155783600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:155779200-155783600	Weak transcription	K562	blood
38	chr1:155779200-155784800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:155779600-155797600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:155780000-155785000	Strong transcription	Fetal Stomach	stomach
41	chr1:155780000-155785800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr1:155780000-155797800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr1:155780000-155798000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:155780200-155783800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:155780200-155786000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:155780200-155786000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:155780200-155796400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:155780200-155796800	Strong transcription	Osteobl	bone
49	chr1:155780200-155797600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:155780400-155783600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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