Variant report

Variant	rs72800338
Chromosome Location	chr16:75074257-75074258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75035430..75037709-chr16:75072527..75074391,2	MCF-7	breast:
2	chr16:75071181..75075297-chr16:75075698..75079222,3	K562	blood:
3	chr16:75031851..75034827-chr16:75071677..75074593,2	K562	blood:
4	chr16:75058158..75062896-chr16:75072873..75076911,4	K562	blood:
5	chr16:75032960..75034925-chr16:75072010..75075012,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103091	Chromatin interaction
ENSG00000186187	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72798662	1.00[AMR][1000 genomes]
rs72798665	1.00[AMR][1000 genomes]
rs72798696	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
6	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv1066130	chr16:74983759-75231161	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv906908	chr16:75025548-75123994	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75035000-75074400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:75046200-75076600	Weak transcription	Gastric	stomach
3	chr16:75047000-75078000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:75055200-75081200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr16:75060200-75076200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:75062000-75078800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:75064000-75078600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:75064400-75078400	Weak transcription	Hela-S3	cervix
9	chr16:75064800-75078400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:75067800-75076600	Weak transcription	Right Atrium	heart
11	chr16:75070200-75076800	Weak transcription	Left Ventricle	heart
12	chr16:75071000-75074400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr16:75071400-75079000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:75071600-75074400	Enhancers	HSMMtube	muscle
15	chr16:75071600-75076600	Weak transcription	Fetal Stomach	stomach
16	chr16:75072200-75076600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:75072200-75076800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr16:75072400-75076000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:75072400-75076000	Weak transcription	Colon Smooth Muscle	Colon
20	chr16:75072400-75076600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:75072400-75076600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:75072400-75076600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr16:75072400-75076600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:75072400-75076600	Weak transcription	Brain Angular Gyrus	brain
25	chr16:75072400-75076600	Weak transcription	Pancreas	Pancrea
26	chr16:75072400-75076800	Weak transcription	Fetal Kidney	kidney
27	chr16:75072400-75076800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr16:75072600-75075400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr16:75072600-75075600	Strong transcription	Fetal Thymus	thymus
30	chr16:75072600-75076400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr16:75072600-75076400	Weak transcription	HepG2	liver
32	chr16:75072600-75076600	Weak transcription	Right Ventricle	heart
33	chr16:75072600-75076800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:75072600-75076800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:75072600-75076800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr16:75072600-75077000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:75072600-75078600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:75072600-75078800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:75072600-75078800	Weak transcription	Placenta	Placenta
40	chr16:75072600-75092200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr16:75072600-75095600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:75072800-75076400	Weak transcription	Fetal Lung	lung
43	chr16:75072800-75076600	Weak transcription	Primary T cells from cord blood	blood
44	chr16:75072800-75076600	Weak transcription	Psoas Muscle	Psoas
45	chr16:75072800-75076600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr16:75072800-75078400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:75072800-75078600	Weak transcription	Osteobl	bone
48	chr16:75072800-75082400	Weak transcription	Fetal Intestine Small	intestine
49	chr16:75073000-75076000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr16:75073000-75076000	Weak transcription	Monocytes-CD14+_RO01746	blood

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