Variant report

Variant	rs73890724
Chromosome Location	chr3:194915276-194915277
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194914606..194916418-chr3:194917868..194919525,2	K562	blood:
2	chr3:194905664..194908891-chr3:194914398..194916423,3	K562	blood:
3	chr3:194911368..194913170-chr3:194913312..194915345,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs2410807	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56668696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57248461	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57365391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57803498	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58385190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58447820	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59334385	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59410531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59614349	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60222943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60263361	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60356340	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61317745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61333086	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6771576	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6777848	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6778619	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6781005	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6781962	1.00[AMR][1000 genomes]
rs6782078	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6786163	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6788143	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6788257	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6788492	1.00[AMR][1000 genomes]
rs6796828	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs736919	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs736920	0.95[AFR][1000 genomes]
rs73890716	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890718	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890719	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890726	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890727	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890728	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890730	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890731	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890732	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890734	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890735	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890739	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
12	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
13	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
14	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
18	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194904600-194916400	Weak transcription	Right Atrium	heart
2	chr3:194907600-194918400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:194909400-194916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:194909600-194916400	Weak transcription	Esophagus	oesophagus
5	chr3:194909600-194921000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:194909800-194916000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:194909800-194916000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:194909800-194916400	Weak transcription	Pancreas	Pancrea
9	chr3:194910600-194919200	Weak transcription	Fetal Lung	lung
10	chr3:194911200-194916400	Weak transcription	Lung	lung
11	chr3:194913000-194915600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:194913000-194916000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:194913400-194916000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:194913800-194915400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:194913800-194915400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:194915000-194915400	Active TSS	K562	blood
17	chr3:194915000-194915800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr3:194915000-194915800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:194915000-194915800	Flanking Active TSS	HUVEC	blood vessel
20	chr3:194915000-194916400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:194915000-194916400	Enhancers	Brain Anterior Caudate	brain
22	chr3:194915000-194917000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:194915000-194917600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:194915000-194917800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:194915000-194917800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:194915000-194917800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr3:194915000-194918000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr3:194915000-194918000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr3:194915000-194918000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:194915000-194920000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:194915200-194915400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:194915200-194915400	Enhancers	Brain Cingulate Gyrus	brain
33	chr3:194915200-194915400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr3:194915200-194915400	Active TSS	GM12878-XiMat	blood
35	chr3:194915200-194915400	Active TSS	Osteobl	bone
36	chr3:194915200-194915600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:194915200-194915600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr3:194915200-194915600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:194915200-194915800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr3:194915200-194915800	Enhancers	Brain Substantia Nigra	brain
41	chr3:194915200-194915800	Flanking Active TSS	NH-A	brain
42	chr3:194915200-194916000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:194915200-194916000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:194915200-194916200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr3:194915200-194916200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:194915200-194916200	Enhancers	Brain Germinal Matrix	brain
47	chr3:194915200-194916600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:194915200-194916600	Enhancers	NHDF-Ad	bronchial
49	chr3:194915200-194916800	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr3:194915200-194917800	Enhancers	HUES48 Cell Line	embryonic stem cell

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