Variant report

Variant	rs55764844
Chromosome Location	chr16:30740064-30740065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30738148..30741438-chr16:30755814..30759116,3	K562	blood:
2	chr16:30734358..30737365-chr16:30737982..30741299,3	MCF-7	breast:
3	chr16:30739470..30742085-chr16:30749128..30751600,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55794634	1.00[AMR][1000 genomes]
rs56371701	1.00[AMR][1000 genomes]
rs59674151	1.00[AMR][1000 genomes]
rs60854012	1.00[AMR][1000 genomes]
rs74015013	1.00[AMR][1000 genomes]
rs74015021	1.00[AMR][1000 genomes]
rs74015027	1.00[AMR][1000 genomes]
rs74015028	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015042	1.00[AMR][1000 genomes]
rs74015052	1.00[AMR][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	chr16:30725200-30740600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:30725200-30742400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:30725200-30742400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:30725200-30750600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:30725200-30750800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr16:30725200-30751000	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr16:30725200-30751800	Weak transcription	Right Atrium	heart
24	chr16:30725400-30750400	Strong transcription	HUVEC	blood vessel
25	chr16:30726600-30750400	Strong transcription	Hela-S3	cervix
26	chr16:30727200-30743400	Strong transcription	A549	lung
27	chr16:30727200-30750600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:30727400-30751000	Strong transcription	Osteobl	bone
29	chr16:30727400-30751200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr16:30727600-30750800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr16:30727600-30751000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:30727600-30757000	Strong transcription	Dnd41	blood
33	chr16:30727800-30740400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr16:30727800-30752200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr16:30728000-30751000	Strong transcription	NH-A	brain
36	chr16:30728400-30750800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr16:30728800-30757000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr16:30730000-30753600	Strong transcription	Brain Angular Gyrus	brain
39	chr16:30730200-30740600	Strong transcription	GM12878-XiMat	blood
40	chr16:30730200-30751200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr16:30730800-30749800	Strong transcription	K562	blood
42	chr16:30733000-30740400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr16:30733600-30751200	Strong transcription	NHLF	lung
44	chr16:30734200-30751200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr16:30734400-30740200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr16:30735400-30741600	Weak transcription	Stomach Mucosa	stomach
47	chr16:30736200-30744000	Weak transcription	Psoas Muscle	Psoas
48	chr16:30736200-30751600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr16:30736400-30740400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr16:30736400-30742200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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