Variant report

Variant	rs34699226
Chromosome Location	chr16:30603521-30603522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30601957..30605105-chr16:30615089..30618135,3	K562	blood:
2	chr16:30603360..30606187-chr16:30620231..30622532,2	MCF-7	breast:
3	chr16:30601786..30604639-chr16:30605834..30610453,5	K562	blood:
4	chr16:30596274..30600205-chr16:30602324..30605332,4	K562	blood:
5	chr16:30545410..30548310-chr16:30602240..30605376,3	MCF-7	breast:
6	chr16:30596939..30599228-chr16:30602741..30604440,3	MCF-7	breast:
7	chr16:30596661..30600739-chr16:30601346..30605641,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261588	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000260167	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12918327	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28728333	0.91[ASN][1000 genomes]
rs28841118	0.91[ASN][1000 genomes]
rs34114657	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35661204	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36064568	0.86[ASN][1000 genomes]
rs4485386	0.91[ASN][1000 genomes]
rs55875685	0.98[ASN][1000 genomes]
rs6565192	0.82[ASN][1000 genomes]
rs6565195	0.89[ASN][1000 genomes]
rs67693285	0.91[ASN][1000 genomes]
rs7184055	0.80[ASN][1000 genomes]
rs7185620	0.91[ASN][1000 genomes]
rs7186852	0.91[ASN][1000 genomes]
rs7187071	0.91[ASN][1000 genomes]
rs7187802	0.80[ASN][1000 genomes]
rs7188789	0.80[ASN][1000 genomes]
rs7191389	0.91[ASN][1000 genomes]
rs7191761	0.91[ASN][1000 genomes]
rs7194347	0.91[ASN][1000 genomes]
rs7197475	0.91[ASN][1000 genomes]
rs7204632	0.91[ASN][1000 genomes]
rs7499339	0.89[ASN][1000 genomes]
rs9925025	0.91[ASN][1000 genomes]
rs9927137	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv542899	chr16:30575260-30612385	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic 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 target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30597800-30603600	Weak transcription	NH-A	brain
2	chr16:30597800-30608800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr16:30597800-30609200	Weak transcription	Brain Angular Gyrus	brain
4	chr16:30597800-30609400	Weak transcription	Brain Hippocampus Middle	brain
5	chr16:30597800-30609400	Weak transcription	Brain Substantia Nigra	brain
6	chr16:30597800-30609600	Weak transcription	Adipose Nuclei	Adipose
7	chr16:30597800-30613400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:30597800-30613400	Weak transcription	Brain Anterior Caudate	brain
9	chr16:30597800-30613400	Weak transcription	Spleen	Spleen
10	chr16:30597800-30613600	Weak transcription	Fetal Lung	lung
11	chr16:30597800-30613600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr16:30597800-30613800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:30597800-30613800	Weak transcription	HSMM	muscle
14	chr16:30597800-30614000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:30597800-30614000	Weak transcription	Left Ventricle	heart
16	chr16:30597800-30614000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr16:30597800-30614000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr16:30597800-30614200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:30597800-30614200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:30597800-30614200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr16:30597800-30614200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr16:30597800-30614400	Weak transcription	Ovary	ovary
23	chr16:30597800-30614800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr16:30597800-30615000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr16:30597800-30615000	Weak transcription	Fetal Kidney	kidney
26	chr16:30597800-30615200	Weak transcription	Esophagus	oesophagus
27	chr16:30597800-30615600	Weak transcription	Right Atrium	heart
28	chr16:30597800-30615600	Weak transcription	Small Intestine	intestine
29	chr16:30598000-30605800	Weak transcription	Osteobl	bone
30	chr16:30598000-30606000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr16:30598000-30613200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr16:30598000-30613400	Weak transcription	Primary T cells from cord blood	blood
33	chr16:30598000-30613400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:30598000-30613600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:30598000-30614000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr16:30598000-30614000	Weak transcription	HMEC	breast
37	chr16:30598000-30614200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr16:30598000-30614200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr16:30598000-30615400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:30598200-30613400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr16:30598400-30609400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:30598400-30612000	Weak transcription	Fetal Brain Female	brain
43	chr16:30598400-30613400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr16:30598400-30613800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr16:30598400-30614200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr16:30598400-30620000	Weak transcription	Fetal Brain Male	brain
47	chr16:30598400-30620200	Weak transcription	HUVEC	blood vessel
48	chr16:30598600-30609400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr16:30598600-30609400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr16:30598600-30609400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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