Variant report

Variant	rs74015011
Chromosome Location	chr16:30556298-30556299
allele	C/T
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	chr16:30553150..30558345-chr16:30559380..30563401,5	K562	blood:
2	chr16:30552999..30555386-chr16:30556261..30558941,2	K562	blood:
3	chr16:30555395..30557197-chr16:30569839..30572289,2	K562	blood:
4	chr16:30555913..30558805-chr16:30639399..30642318,2	K562	blood:
5	chr16:30554170..30556650-chr16:30561095..30563472,2	MCF-7	breast:
6	chr16:30553343..30557401-chr16:30564717..30567278,3	K562	blood:
7	chr16:30554415..30557647-chr16:30560769..30563401,3	K562	blood:
8	chr16:30553506..30556409-chr16:30563920..30565827,2	MCF-7	breast:
9	chr16:30548818..30551433-chr16:30555787..30557669,2	MCF-7	breast:
10	chr16:30455274..30457698-chr16:30553358..30556339,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260494	Chromatin interaction
ENSG00000179918	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]
rs74015010	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:69 , 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	chr16:30548200-30557200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr16:30548200-30557200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:30548200-30562600	Weak transcription	GM12878-XiMat	blood
20	chr16:30548600-30564200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr16:30551200-30564200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:30551400-30559400	Weak transcription	Gastric	stomach
23	chr16:30551400-30562400	Weak transcription	Primary T cells from cord blood	blood
24	chr16:30551400-30562400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr16:30551400-30562400	Weak transcription	Fetal Thymus	thymus
26	chr16:30551400-30562600	Weak transcription	Dnd41	blood
27	chr16:30551600-30559600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr16:30552400-30557800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:30553000-30564200	Weak transcription	Right Atrium	heart
30	chr16:30553200-30558600	Weak transcription	Stomach Mucosa	stomach
31	chr16:30553200-30560400	Weak transcription	Colonic Mucosa	Colon
32	chr16:30553200-30564000	Weak transcription	Adipose Nuclei	Adipose
33	chr16:30553200-30565200	Weak transcription	Fetal Lung	lung
34	chr16:30553400-30568400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:30553600-30560400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr16:30553600-30564800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:30553600-30565600	Weak transcription	Pancreas	Pancrea
38	chr16:30553600-30567400	Weak transcription	Hela-S3	cervix
39	chr16:30553800-30559400	Weak transcription	Left Ventricle	heart
40	chr16:30553800-30564400	Weak transcription	Ovary	ovary
41	chr16:30554000-30556400	Enhancers	HepG2	liver
42	chr16:30554000-30556600	Enhancers	Fetal Intestine Small	intestine
43	chr16:30554000-30559600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr16:30554000-30565200	Weak transcription	Colon Smooth Muscle	Colon
45	chr16:30554400-30557600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr16:30554400-30559200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr16:30554400-30564000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:30554600-30557200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr16:30555000-30556400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr16:30555000-30559200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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