Variant report

Variant	rs74015010
Chromosome Location	chr16:30551417-30551418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30550027-30551514	HepG2	liver:	n/a	n/a
2	EBF1	chr16:30551308-30551530	GM12878	blood:	n/a	chr16:30551443-30551452 chr16:30551441-30551454
3	MYBL2	chr16:30550874-30551545	HepG2	liver:	n/a	n/a
4	EBF1	chr16:30551104-30551470	GM12878	blood:	n/a	chr16:30551443-30551452 chr16:30551441-30551454
5	HEY1	chr16:30550315-30551499	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:30550003-30551735	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30542294..30544212-chr16:30551381..30554505,3	MCF-7	breast:
2	chr16:30536383..30540831-chr16:30551260..30554366,4	MCF-7	breast:

Variant related genes	Relation type
ZNF747	TF binding region
ENSG00000260494	TF binding region
ENSG00000169957	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1348039	1.00[AMR][1000 genomes]
rs1470129	1.00[AMR][1000 genomes]
rs1530201	1.00[AMR][1000 genomes]
rs2919428	1.00[AMR][1000 genomes]
rs2972805	1.00[AMR][1000 genomes]
rs2972806	1.00[AMR][1000 genomes]
rs34838942	1.00[AMR][1000 genomes]
rs35590751	1.00[AMR][1000 genomes]
rs35752464	1.00[AMR][1000 genomes]
rs4889492	1.00[AMR][1000 genomes]
rs4889502	1.00[AMR][1000 genomes]
rs4889506	1.00[AMR][1000 genomes]
rs58723456	1.00[AMR][1000 genomes]
rs59474645	1.00[AMR][1000 genomes]
rs62057229	1.00[AMR][1000 genomes]
rs7188927	1.00[AMR][1000 genomes]
rs74015011	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015012	1.00[AMR][1000 genomes]
rs893924	1.00[AMR][1000 genomes]
rs893925	1.00[AMR][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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30547400-30552400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr16:30547400-30552600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr16:30547400-30552600	Weak transcription	NH-A	brain
4	chr16:30547400-30564000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr16:30547400-30564200	Weak transcription	Small Intestine	intestine
6	chr16:30547600-30551800	Weak transcription	Brain Germinal Matrix	brain
7	chr16:30547600-30552200	Weak transcription	Brain Substantia Nigra	brain
8	chr16:30547600-30552400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:30547600-30552400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:30547600-30552400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:30547600-30552400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:30547600-30552400	Weak transcription	Colonic Mucosa	Colon
13	chr16:30547600-30552400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr16:30547600-30552400	Weak transcription	HUVEC	blood vessel
15	chr16:30547600-30552600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:30547600-30552600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr16:30547600-30552800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr16:30547600-30552800	Weak transcription	Adipose Nuclei	Adipose
19	chr16:30547600-30552800	Weak transcription	HSMM	muscle
20	chr16:30547600-30553000	Weak transcription	Colon Smooth Muscle	Colon
21	chr16:30547600-30553000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr16:30547600-30553400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:30547600-30553400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr16:30547600-30553600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr16:30547600-30560000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr16:30547600-30560400	Weak transcription	NHEK	skin
27	chr16:30547600-30562400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:30547600-30562600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:30547600-30562600	Weak transcription	Placenta	Placenta
30	chr16:30547600-30564000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr16:30547600-30564200	Weak transcription	Esophagus	oesophagus
32	chr16:30547600-30564400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:30547600-30564400	Weak transcription	Lung	lung
34	chr16:30547600-30564400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:30547600-30564400	Weak transcription	Spleen	Spleen
36	chr16:30547800-30552400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr16:30547800-30552400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:30547800-30552400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr16:30547800-30552400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:30547800-30552400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:30547800-30552400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr16:30547800-30552400	Weak transcription	Fetal Lung	lung
43	chr16:30547800-30552600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr16:30547800-30552600	Weak transcription	Fetal Kidney	kidney
45	chr16:30547800-30552800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr16:30547800-30554400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr16:30547800-30560600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:30548000-30552400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr16:30548000-30552400	Weak transcription	Osteobl	bone
50	chr16:30548000-30552600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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