Variant report

Variant	rs73944825
Chromosome Location	chr2:58383089-58383090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58377432..58380548-chr2:58381310..58384548,3	K562	blood:
2	chr2:58382175..58383987-chr2:58385684..58387729,3	MCF-7	breast:
3	chr2:58382472..58384235-chr2:58388859..58391605,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17049347	0.87[AFR][1000 genomes]
rs17049370	0.91[AFR][1000 genomes]
rs17049374	0.91[AFR][1000 genomes]
rs55925609	0.91[AFR][1000 genomes]
rs58435179	1.00[AMR][1000 genomes]
rs58984910	0.95[AFR][1000 genomes]
rs59264390	0.82[AFR][1000 genomes]
rs59299963	0.84[AFR][1000 genomes]
rs60912631	0.91[AFR][1000 genomes]
rs61126591	0.93[AFR][1000 genomes]
rs73942274	1.00[AMR][1000 genomes]
rs73942281	0.84[AFR][1000 genomes]
rs73942288	1.00[AMR][1000 genomes]
rs73944812	0.91[AFR][1000 genomes]
rs73944819	0.89[AFR][1000 genomes]
rs73944821	1.00[AMR][1000 genomes]
rs73944823	0.86[AFR][1000 genomes]
rs73944827	0.91[AFR][1000 genomes]
rs73944837	0.93[AFR][1000 genomes]
rs73944838	0.86[AFR][1000 genomes]
rs73944840	0.88[AFR][1000 genomes]
rs7587116	0.87[AFR][1000 genomes]
rs7587229	0.87[AFR][1000 genomes]
rs759352	1.00[AMR][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	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58315200-58389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:58344400-58386000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:58346000-58384400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:58346800-58387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:58347800-58384000	Weak transcription	Fetal Kidney	kidney
6	chr2:58347800-58386600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:58349000-58421200	Weak transcription	Brain Substantia Nigra	brain
8	chr2:58350400-58383800	Weak transcription	K562	blood
9	chr2:58351000-58384600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:58353800-58388200	Weak transcription	Small Intestine	intestine
11	chr2:58358200-58393800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:58358400-58389000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:58358800-58385200	Weak transcription	Placenta	Placenta
14	chr2:58358800-58385600	Weak transcription	Fetal Thymus	thymus
15	chr2:58359000-58386600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:58359000-58387400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:58359000-58391400	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:58359000-58399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:58359200-58384400	Weak transcription	Left Ventricle	heart
21	chr2:58359200-58395200	Weak transcription	Fetal Stomach	stomach
22	chr2:58359200-58399200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:58359400-58385600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:58359400-58389400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:58359600-58385600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:58359800-58384400	Weak transcription	HepG2	liver
27	chr2:58359800-58392000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:58360800-58385000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:58360800-58388600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:58363400-58399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:58363600-58384600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:58363600-58406800	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:58365000-58383800	Weak transcription	NH-A	brain
34	chr2:58365200-58390000	Weak transcription	Psoas Muscle	Psoas
35	chr2:58365600-58438000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:58365800-58384600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:58368200-58387400	Weak transcription	NHLF	lung
38	chr2:58368200-58403000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:58368200-58417000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:58368600-58399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:58369000-58383400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:58370200-58384400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:58370800-58387200	Weak transcription	Brain Anterior Caudate	brain
44	chr2:58371000-58384400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:58371400-58384600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:58371600-58384400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:58372200-58386400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:58372400-58384400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:58372400-58384400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:58373200-58385800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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