Variant report

Variant	rs59674151
Chromosome Location	chr16:30732328-30732329
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30709780..30713013-chr16:30732195..30734025,3	MCF-7	breast:
2	chr16:30726892..30729425-chr16:30730924..30734023,3	MCF-7	breast:
3	chr16:30731082..30734798-chr16:30751746..30754468,4	MCF-7	breast:
4	chr16:30708914..30712519-chr16:30730531..30734012,4	MCF-7	breast:
5	chr16:30720467..30723677-chr16:30731409..30734566,3	MCF-7	breast:
6	chr16:30714067..30721409-chr16:30731566..30738220,10	K562	blood:
7	chr16:30672645..30674640-chr16:30731783..30734151,2	MCF-7	breast:
8	chr16:30708366..30711716-chr16:30731069..30735799,5	K562	blood:
9	chr16:30731895..30733917-chr16:30768717..30771072,2	MCF-7	breast:
10	chr16:30732105..30734400-chr16:30772888..30775702,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156860	Chromatin interaction
ENSG00000222287	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000206755	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000196118	Chromatin interaction
ENSG00000103549	Chromatin interaction

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

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

rs_ID	r²[population]
rs55764844	1.00[AMR][1000 genomes]
rs55794634	1.00[AMR][1000 genomes]
rs56371701	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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015028	1.00[AMR][1000 genomes]
rs74015042	1.00[AFR][1000 genomes];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	chr16:30711600-30735600	Strong transcription	Duodenum Mucosa	Duodenum
4	chr16:30711600-30735800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:30711600-30736000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:30711600-30738000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:30711600-30738800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr16:30711600-30750800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:30711600-30752000	Strong transcription	Fetal Lung	lung
10	chr16:30711600-30756200	Strong transcription	Thymus	Thymus
11	chr16:30711800-30737000	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr16:30711800-30738400	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr16:30711800-30738400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:30711800-30739000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr16:30711800-30739200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr16:30711800-30739600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:30711800-30757000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:30711800-30757200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:30712000-30736800	Strong transcription	Fetal Brain Female	brain
20	chr16:30712000-30737200	Strong transcription	HSMMtube	muscle
21	chr16:30712000-30756600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr16:30712200-30733400	Strong transcription	Spleen	Spleen
23	chr16:30712200-30735400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr16:30712200-30735600	Strong transcription	Fetal Intestine Large	intestine
25	chr16:30712200-30735800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr16:30712200-30735800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr16:30712200-30736400	Strong transcription	Colon Smooth Muscle	Colon
28	chr16:30712200-30736800	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr16:30712200-30737000	Strong transcription	Rectal Smooth Muscle	rectum
30	chr16:30712200-30737400	Strong transcription	Lung	lung
31	chr16:30712200-30754200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:30712200-30755000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr16:30712200-30757400	Strong transcription	Fetal Stomach	stomach
34	chr16:30712200-30758800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:30712400-30735000	Strong transcription	Liver	Liver
36	chr16:30712400-30736400	Strong transcription	Fetal Intestine Small	intestine
37	chr16:30712400-30736800	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr16:30712400-30751200	Strong transcription	Left Ventricle	heart
39	chr16:30712400-30751600	Strong transcription	Fetal Muscle Leg	muscle
40	chr16:30713400-30737000	Strong transcription	Aorta	Aorta
41	chr16:30714000-30737000	Strong transcription	Right Ventricle	heart
42	chr16:30714200-30735400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr16:30714400-30739800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr16:30715000-30751800	Strong transcription	Brain Germinal Matrix	brain
45	chr16:30721600-30756800	Strong transcription	Fetal Thymus	thymus
46	chr16:30725200-30736800	Strong transcription	Brain Hippocampus Middle	brain
47	chr16:30725200-30740600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:30725200-30742400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:30725200-30742400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr16:30725200-30750600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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