Variant report

Variant	rs73831544
Chromosome Location	chr3:47991334-47991335
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	chr3:47988815..47991729-chr3:47994715..47997497,2	K562	blood:
2	chr3:47988815..47992482-chr3:47994715..47997497,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1486916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2351249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2593817	1.00[AMR][1000 genomes]
rs319683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34675858	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3731495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4476528	1.00[AMR][1000 genomes]
rs55736379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55808934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442092	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442103	1.00[EUR][1000 genomes]
rs6442104	1.00[AMR][1000 genomes]
rs6773945	1.00[AMR][1000 genomes]
rs7372108	1.00[AMR][1000 genomes]
rs73831540	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9863220	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9917799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006560	chr3:47867461-48037031	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv1011662	chr3:47891634-48019462	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv536561	chr3:47891634-48019462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv1796001	chr3:47912703-48012797	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1826403	chr3:47912703-48012797	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1835684	chr3:47912703-48123540	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1000817	chr3:47927730-48032401	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
12	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47968600-48012600	Weak transcription	Primary B cells from cord blood	blood
2	chr3:47968800-48003000	Weak transcription	Primary T cells from cord blood	blood
3	chr3:47969000-48003000	Weak transcription	Thymus	Thymus
4	chr3:47969200-48002600	Weak transcription	Aorta	Aorta
5	chr3:47969200-48003200	Weak transcription	Lung	lung
6	chr3:47969800-47991600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:47969800-47997000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:47969800-48000600	Weak transcription	Fetal Stomach	stomach
9	chr3:47969800-48002600	Weak transcription	HMEC	breast
10	chr3:47969800-48003000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:47969800-48003000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:47969800-48003000	Weak transcription	Hela-S3	cervix
13	chr3:47969800-48003200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:47969800-48003200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:47969800-48003200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:47969800-48004000	Weak transcription	NHLF	lung
17	chr3:47970000-48003000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr3:47970200-47994200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:47970200-47996000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:47970200-48003000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:47970200-48003000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr3:47970200-48003000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:47970200-48003200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:47970200-48003200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:47970200-48013000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:47970200-48016600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:47974400-47991600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:47974400-47997000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:47974400-48003000	Weak transcription	HSMMtube	muscle
30	chr3:47974400-48003200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:47974400-48012600	Weak transcription	Osteobl	bone
32	chr3:47974600-47996200	Weak transcription	HSMM	muscle
33	chr3:47976800-47992200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:47980600-47997800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:47980600-48002600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:47980800-47997000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:47982400-47997600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr3:47982400-48001400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:47982800-48003200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:47983200-48003600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:47985400-47991400	Weak transcription	Right Ventricle	heart
42	chr3:47985400-47996000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:47987000-47991400	Weak transcription	GM12878-XiMat	blood
44	chr3:47989000-47997800	Weak transcription	Psoas Muscle	Psoas
45	chr3:47989000-48002200	Weak transcription	NHEK	skin
46	chr3:47989600-47992000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:47989600-48002800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:47989800-48003200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr3:47989800-48012400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr3:47990400-47991800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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