Variant report

Variant	rs34574967
Chromosome Location	chr4:2575288-2575289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13125136	1.00[AMR][1000 genomes]
rs13129679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13152126	1.00[AMR][1000 genomes]
rs35224370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35546272	0.81[EUR][1000 genomes]
rs35670376	1.00[AMR][1000 genomes]
rs71608211	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71608219	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432548	chr4:1725009-2652494	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv1003409	chr4:2541224-2724199	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2540000-2585200	Weak transcription	Osteobl	bone
2	chr4:2540400-2576600	Weak transcription	NHLF	lung
3	chr4:2541200-2575400	Weak transcription	Fetal Lung	lung
4	chr4:2545200-2585000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:2548400-2584200	Weak transcription	A549	lung
6	chr4:2551000-2584400	Weak transcription	NHEK	skin
7	chr4:2559200-2590800	Weak transcription	Fetal Kidney	kidney
8	chr4:2559800-2584800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:2560400-2581400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:2561600-2576000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:2562000-2588800	Weak transcription	NHDF-Ad	bronchial
12	chr4:2562600-2584000	Weak transcription	NH-A	brain
13	chr4:2562800-2584600	Weak transcription	Hela-S3	cervix
14	chr4:2563000-2575400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:2564400-2575600	Weak transcription	Fetal Brain Female	brain
16	chr4:2565200-2576200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:2565400-2576800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:2565600-2584800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:2566000-2584400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:2567400-2575400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:2567600-2576000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:2567800-2576000	Weak transcription	Dnd41	blood
23	chr4:2567800-2584600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:2568400-2580800	Weak transcription	Fetal Intestine Large	intestine
25	chr4:2568600-2584200	Weak transcription	Fetal Heart	heart
26	chr4:2569200-2576200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:2570000-2575400	Weak transcription	Liver	Liver
28	chr4:2570200-2575400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr4:2570400-2582000	Weak transcription	Placenta	Placenta
30	chr4:2570600-2584800	Weak transcription	HSMM	muscle
31	chr4:2570800-2576200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:2571800-2576200	Enhancers	Brain Anterior Caudate	brain
33	chr4:2571800-2576200	Enhancers	Brain Hippocampus Middle	brain
34	chr4:2571800-2576600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:2572200-2577000	Enhancers	Left Ventricle	heart
36	chr4:2572200-2577000	Enhancers	Right Atrium	heart
37	chr4:2572600-2576000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr4:2572600-2576200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr4:2572600-2584000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:2572800-2575400	Weak transcription	Esophagus	oesophagus
41	chr4:2572800-2575800	Weak transcription	Pancreas	Pancrea
42	chr4:2572800-2576000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr4:2572800-2576200	Weak transcription	Primary B cells from cord blood	blood
44	chr4:2572800-2576400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:2572800-2576800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:2572800-2584000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:2573000-2575400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:2573000-2575400	Weak transcription	Small Intestine	intestine
49	chr4:2573000-2577000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:2573000-2577200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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