Variant report

Variant	rs8044603
Chromosome Location	chr16:30559377-30559378
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30557356..30560431-chr16:30574785..30578113,3	MCF-7	breast:
2	chr16:30559185..30561060-chr16:30581523..30583226,2	MCF-7	breast:
3	chr16:30536780..30538285-chr16:30558665..30560677,2	MCF-7	breast:
4	chr16:30551461..30555386-chr16:30557441..30560467,3	K562	blood:
5	chr16:30545329..30548631-chr16:30556343..30560771,4	K562	blood:
6	chr16:30455921..30458379-chr16:30559284..30562384,3	MCF-7	breast:
7	chr16:30545329..30549144-chr16:30556356..30560472,4	K562	blood:
8	chr16:30540585..30543471-chr16:30559364..30562219,2	K562	blood:
9	chr16:30558245..30560861-chr16:30561639..30563258,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229809	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000261459	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6565191	1.00[CHD][hapmap]
rs8056929	1.00[CHD][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv3390311	chr16:30544451-30567432	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
5	esv3432040	chr16:30545881-30569546	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs8044603	RABEP2	cis	cerebellum	SCAN
rs8044603	RNF40	cis	cerebellum	SCAN
rs8044603	CTF1	cis	cerebellum	SCAN
rs8044603	STX1B	cis	cerebellum	SCAN
rs8044603	DCTPP1	cis	cerebellum	SCAN
rs8044603	C16orf93	cis	parietal	SCAN
rs8044603	STX1B	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30547400-30564000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:30547400-30564200	Weak transcription	Small Intestine	intestine
3	chr16:30547600-30560000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:30547600-30560400	Weak transcription	NHEK	skin
5	chr16:30547600-30562400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:30547600-30562600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:30547600-30562600	Weak transcription	Placenta	Placenta
8	chr16:30547600-30564000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr16:30547600-30564200	Weak transcription	Esophagus	oesophagus
10	chr16:30547600-30564400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr16:30547600-30564400	Weak transcription	Lung	lung
12	chr16:30547600-30564400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr16:30547600-30564400	Weak transcription	Spleen	Spleen
14	chr16:30547800-30560600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:30548000-30560200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr16:30548000-30564600	Weak transcription	Primary B cells from cord blood	blood
17	chr16:30548200-30562600	Weak transcription	GM12878-XiMat	blood
18	chr16:30548600-30564200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr16:30551200-30564200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:30551400-30559400	Weak transcription	Gastric	stomach
21	chr16:30551400-30562400	Weak transcription	Primary T cells from cord blood	blood
22	chr16:30551400-30562400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr16:30551400-30562400	Weak transcription	Fetal Thymus	thymus
24	chr16:30551400-30562600	Weak transcription	Dnd41	blood
25	chr16:30551600-30559600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr16:30553000-30564200	Weak transcription	Right Atrium	heart
27	chr16:30553200-30560400	Weak transcription	Colonic Mucosa	Colon
28	chr16:30553200-30564000	Weak transcription	Adipose Nuclei	Adipose
29	chr16:30553200-30565200	Weak transcription	Fetal Lung	lung
30	chr16:30553400-30568400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:30553600-30560400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr16:30553600-30564800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:30553600-30565600	Weak transcription	Pancreas	Pancrea
34	chr16:30553600-30567400	Weak transcription	Hela-S3	cervix
35	chr16:30553800-30559400	Weak transcription	Left Ventricle	heart
36	chr16:30553800-30564400	Weak transcription	Ovary	ovary
37	chr16:30554000-30559600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr16:30554000-30565200	Weak transcription	Colon Smooth Muscle	Colon
39	chr16:30554400-30564000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr16:30555000-30561400	Enhancers	Fetal Intestine Large	intestine
41	chr16:30555000-30568600	Weak transcription	Fetal Kidney	kidney
42	chr16:30555200-30559600	Weak transcription	Fetal Heart	heart
43	chr16:30555200-30559800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr16:30555200-30559800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr16:30555200-30559800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:30555200-30562600	Weak transcription	Fetal Stomach	stomach
47	chr16:30556200-30560000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr16:30556600-30559400	Genic enhancers	Fetal Intestine Small	intestine
49	chr16:30556600-30565600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr16:30556800-30564200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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