Variant report

Variant	rs62057184
Chromosome Location	chr16:30745976-30745977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30745912..30749921-chr16:30757400..30760348,3	K562	blood:
2	chr16:30735335..30739312-chr16:30745767..30748476,4	MCF-7	breast:
3	chr16:30708138..30712367-chr16:30742355..30746018,6	K562	blood:
4	chr16:30726555..30728465-chr16:30745780..30748247,2	K562	blood:
5	chr16:30726965..30729233-chr16:30745780..30747380,2	K562	blood:

Variant related genes	Relation type
ENSG00000261840	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000156873	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17855121	1.00[ASN][1000 genomes]
rs62057174	1.00[ASN][1000 genomes]
rs62057183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30711400-30751400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:30711400-30757000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:30711600-30750800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr16:30711600-30752000	Strong transcription	Fetal Lung	lung
5	chr16:30711600-30756200	Strong transcription	Thymus	Thymus
6	chr16:30711800-30757000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:30711800-30757200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:30712000-30756600	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr16:30712200-30754200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:30712200-30755000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr16:30712200-30757400	Strong transcription	Fetal Stomach	stomach
12	chr16:30712200-30758800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr16:30712400-30751200	Strong transcription	Left Ventricle	heart
14	chr16:30712400-30751600	Strong transcription	Fetal Muscle Leg	muscle
15	chr16:30715000-30751800	Strong transcription	Brain Germinal Matrix	brain
16	chr16:30721600-30756800	Strong transcription	Fetal Thymus	thymus
17	chr16:30725200-30750600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:30725200-30750800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr16:30725200-30751000	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr16:30725200-30751800	Weak transcription	Right Atrium	heart
21	chr16:30725400-30750400	Strong transcription	HUVEC	blood vessel
22	chr16:30726600-30750400	Strong transcription	Hela-S3	cervix
23	chr16:30727200-30750600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:30727400-30751000	Strong transcription	Osteobl	bone
25	chr16:30727400-30751200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr16:30727600-30750800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:30727600-30751000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:30727600-30757000	Strong transcription	Dnd41	blood
29	chr16:30727800-30752200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr16:30728000-30751000	Strong transcription	NH-A	brain
31	chr16:30728400-30750800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr16:30728800-30757000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr16:30730000-30753600	Strong transcription	Brain Angular Gyrus	brain
34	chr16:30730200-30751200	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr16:30730800-30749800	Strong transcription	K562	blood
36	chr16:30733600-30751200	Strong transcription	NHLF	lung
37	chr16:30734200-30751200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:30736200-30751600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr16:30736400-30749600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:30736400-30757000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr16:30736600-30757000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr16:30737000-30752000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:30737400-30757000	Strong transcription	Fetal Brain Female	brain
44	chr16:30737800-30748600	Weak transcription	Fetal Heart	heart
45	chr16:30738000-30747600	Strong transcription	Placenta	Placenta
46	chr16:30738000-30751200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:30738400-30750800	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr16:30739200-30751400	Strong transcription	Primary T cells from cord blood	blood
49	chr16:30739200-30751400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr16:30739200-30751800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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