Variant report

Variant	rs72739653
Chromosome Location	chr1:184928559-184928560
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184902086..184904190-chr1:184927535..184929685,2	K562	blood:
2	chr1:184917902..184920737-chr1:184928155..184930741,2	K562	blood:
3	chr1:184911457..184913346-chr1:184928137..184930772,2	K562	blood:
4	chr1:184796575..184799361-chr1:184927581..184929805,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72739641	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72739654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72739664	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72739668	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1012048	chr1:184913958-184959967	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184905800-184940200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:184907400-184938000	Weak transcription	Gastric	stomach
3	chr1:184915800-184940800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:184917000-184940200	Weak transcription	Esophagus	oesophagus
5	chr1:184917200-184937400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:184923400-184930600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:184923600-184938200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:184923800-184930400	Weak transcription	GM12878-XiMat	blood
9	chr1:184923800-184930600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:184923800-184936800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:184924000-184933200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:184924000-184935400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:184924000-184935400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:184924000-184939600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:184924800-184937600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:184925400-184933000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:184925400-184933200	Weak transcription	NHEK	skin
18	chr1:184925400-184935000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:184926000-184929800	Enhancers	Colon Smooth Muscle	Colon
20	chr1:184926000-184939800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:184926200-184930600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:184926400-184940400	Weak transcription	Right Atrium	heart
23	chr1:184926400-184942600	Weak transcription	Lung	lung
24	chr1:184926800-184929600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:184927200-184929000	Enhancers	Psoas Muscle	Psoas
26	chr1:184927600-184928600	Enhancers	NHDF-Ad	bronchial
27	chr1:184927600-184930000	Enhancers	Rectal Smooth Muscle	rectum
28	chr1:184927600-184936800	Weak transcription	Thymus	Thymus
29	chr1:184927800-184929400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:184928000-184928800	Flanking Active TSS	Fetal Heart	heart
31	chr1:184928000-184928800	Enhancers	NHLF	lung
32	chr1:184928000-184929000	Enhancers	Fetal Lung	lung
33	chr1:184928000-184929000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr1:184928000-184929200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:184928200-184928600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:184928200-184928600	Enhancers	Fetal Intestine Small	intestine
37	chr1:184928200-184928600	Enhancers	Fetal Muscle Leg	muscle
38	chr1:184928200-184928600	Enhancers	Pancreas	Pancrea
39	chr1:184928200-184928600	Enhancers	Right Ventricle	heart
40	chr1:184928200-184928600	Enhancers	K562	blood
41	chr1:184928200-184928800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:184928200-184928800	Enhancers	Adipose Nuclei	Adipose
43	chr1:184928200-184928800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr1:184928200-184928800	Enhancers	Stomach Smooth Muscle	stomach
45	chr1:184928200-184929000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:184928200-184929200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:184928200-184929200	Enhancers	Fetal Stomach	stomach
48	chr1:184928400-184928600	Enhancers	Aorta	Aorta
49	chr1:184928400-184928800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:184928400-184929000	Enhancers	Duodenum Smooth Muscle	Duodenum

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