Variant report

Variant	rs73944838
Chromosome Location	chr2:58449299-58449300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58448319..58453371-chr2:58460380..58466527,5	K562	blood:
2	chr2:58438532..58441136-chr2:58448840..58451034,2	K562	blood:
3	chr2:58448017..58451286-chr2:58451498..58454786,5	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17049347	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049370	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049374	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049404	1.00[AMR][1000 genomes]
rs55925609	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58495080	1.00[AMR][1000 genomes]
rs58984910	0.86[AFR][1000 genomes]
rs59264390	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59299963	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60912631	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61126591	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6741122	1.00[AMR][1000 genomes]
rs73942281	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944812	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944819	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944823	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944825	0.86[AFR][1000 genomes]
rs73944826	1.00[AMR][1000 genomes]
rs73944827	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944828	1.00[AMR][1000 genomes]
rs73944835	1.00[AMR][1000 genomes]
rs73944837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944839	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944840	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7587116	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7587229	0.87[AFR][1000 genomes];1.00[AMR][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	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
2	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
3	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv458052	chr2:58388696-58450569	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv582098	chr2:58388696-58450569	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv817995	chr2:58390538-58450569	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:58391000-58467000	Weak transcription	HMEC	breast
3	chr2:58414000-58461400	Weak transcription	NHEK	skin
4	chr2:58416200-58454200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:58416600-58467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:58421600-58452400	Weak transcription	NH-A	brain
7	chr2:58422000-58454200	Weak transcription	Left Ventricle	heart
8	chr2:58432000-58466400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:58433600-58454200	Weak transcription	Gastric	stomach
10	chr2:58437000-58460200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:58437200-58459000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:58437800-58456800	Weak transcription	Fetal Kidney	kidney
13	chr2:58438600-58454200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:58438600-58454200	Weak transcription	Aorta	Aorta
15	chr2:58438600-58454200	Weak transcription	Esophagus	oesophagus
16	chr2:58438600-58454200	Weak transcription	Fetal Brain Female	brain
17	chr2:58438600-58454200	Weak transcription	Fetal Stomach	stomach
18	chr2:58438600-58454200	Weak transcription	Lung	lung
19	chr2:58438600-58454200	Weak transcription	Pancreas	Pancrea
20	chr2:58438600-58454200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:58438600-58454200	Weak transcription	Thymus	Thymus
22	chr2:58438600-58466400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:58438800-58454200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:58438800-58454200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:58439000-58467400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:58439200-58454200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:58439200-58454400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:58439200-58457000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:58439200-58457600	Weak transcription	Placenta	Placenta
30	chr2:58439600-58454200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:58440000-58454200	Weak transcription	Primary B cells from cord blood	blood
32	chr2:58440000-58465000	Weak transcription	Fetal Brain Male	brain
33	chr2:58440000-58467400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr2:58440600-58454200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:58440600-58454400	Weak transcription	HSMM	muscle
36	chr2:58440600-58462000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:58440600-58467400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:58440800-58449400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:58440800-58450000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:58440800-58450400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:58440800-58453400	Weak transcription	NHDF-Ad	bronchial
42	chr2:58440800-58453600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:58440800-58454200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:58440800-58454400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:58440800-58457600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:58441000-58454200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:58441000-58458200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:58441200-58454200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:58441200-58454200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:58441600-58454000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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