Variant report

Variant	rs74134119
Chromosome Location	chr1:184578934-184578935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184565840..184568814-chr1:184577675..184580336,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10158270	1.00[EUR][1000 genomes]
rs12057256	1.00[EUR][1000 genomes]
rs12062390	1.00[EUR][1000 genomes]
rs12079052	1.00[EUR][1000 genomes]
rs12079092	1.00[EUR][1000 genomes]
rs12084533	1.00[EUR][1000 genomes]
rs16823167	1.00[AMR][1000 genomes]
rs58703459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688083	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74131687	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134113	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134117	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74134118	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184547800-184580000	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:184557200-184591600	Weak transcription	Aorta	Aorta
3	chr1:184559000-184588400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:184559200-184580400	Weak transcription	Adipose Nuclei	Adipose
5	chr1:184559400-184580400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:184560600-184591000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:184562400-184580000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:184562800-184579600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:184564200-184580200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:184564200-184580200	Weak transcription	Ovary	ovary
11	chr1:184566800-184588600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:184567000-184580000	Weak transcription	Fetal Kidney	kidney
13	chr1:184567000-184580400	Weak transcription	Psoas Muscle	Psoas
14	chr1:184567200-184580400	Weak transcription	Colonic Mucosa	Colon
15	chr1:184567200-184580400	Weak transcription	Right Atrium	heart
16	chr1:184567200-184580400	Weak transcription	NHEK	skin
17	chr1:184567200-184590200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:184567800-184580200	Weak transcription	Fetal Lung	lung
19	chr1:184568000-184579400	Weak transcription	Fetal Stomach	stomach
20	chr1:184568000-184580200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:184568000-184580600	Weak transcription	Fetal Heart	heart
22	chr1:184568400-184588600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:184569800-184588800	Weak transcription	Liver	Liver
24	chr1:184571600-184580000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:184571600-184582600	Weak transcription	GM12878-XiMat	blood
26	chr1:184571600-184591200	Weak transcription	Fetal Intestine Large	intestine
27	chr1:184573600-184598800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:184573800-184588400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:184574000-184580200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:184574400-184588600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:184574600-184580400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:184574600-184580400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:184574800-184580400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:184574800-184584000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:184574800-184589000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:184575200-184580400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:184575200-184580400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:184575200-184580400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:184575200-184580600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:184575400-184580200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:184576600-184580000	Weak transcription	Brain Angular Gyrus	brain
42	chr1:184577400-184579200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:184577400-184581600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:184577800-184585600	Weak transcription	Right Ventricle	heart
45	chr1:184578000-184580000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:184578200-184579000	Enhancers	Fetal Muscle Leg	muscle
47	chr1:184578200-184580600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:184578200-184591400	Weak transcription	Lung	lung
49	chr1:184578400-184579600	Weak transcription	Left Ventricle	heart
50	chr1:184578400-184580200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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