Variant report

Variant	rs72800346
Chromosome Location	chr16:75085739-75085740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75085415..75089375-chr16:75090531..75092729,4	K562	blood:
2	chr16:75085458..75088383-chr16:75145828..75149119,3	MCF-7	breast:
3	chr16:75084901..75088188-chr16:75093761..75097228,3	MCF-7	breast:
4	chr16:75035971..75039147-chr16:75085243..75088261,4	MCF-7	breast:
5	chr16:75085413..75087923-chr16:75092762..75094275,2	K562	blood:

Variant related genes	Relation type
ENSG00000186187	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72798674	1.00[AFR][1000 genomes]
rs72802307	1.00[AFR][1000 genomes]
rs72802316	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
7	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
8	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75072600-75092200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr16:75072600-75095600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:75077000-75086000	Weak transcription	Gastric	stomach
4	chr16:75077000-75089400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:75077000-75097000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:75077600-75087600	Weak transcription	Primary T cells from cord blood	blood
7	chr16:75077600-75088600	Weak transcription	Fetal Brain Male	brain
8	chr16:75077800-75086400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr16:75078000-75087800	Weak transcription	Esophagus	oesophagus
10	chr16:75079200-75085800	Weak transcription	HepG2	liver
11	chr16:75079200-75086600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr16:75079400-75087600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr16:75079400-75094400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr16:75079600-75087800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr16:75079600-75088000	Weak transcription	Pancreas	Pancrea
16	chr16:75079600-75115400	Weak transcription	Aorta	Aorta
17	chr16:75079800-75086000	Weak transcription	Fetal Heart	heart
18	chr16:75079800-75086600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr16:75079800-75087000	Weak transcription	Fetal Lung	lung
20	chr16:75079800-75087600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr16:75079800-75087600	Weak transcription	Liver	Liver
22	chr16:75079800-75087800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr16:75079800-75087800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr16:75079800-75087800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:75079800-75087800	Weak transcription	Brain Substantia Nigra	brain
26	chr16:75079800-75092800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:75079800-75096000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr16:75080000-75092400	Weak transcription	Ovary	ovary
29	chr16:75080400-75087600	Weak transcription	HSMMtube	muscle
30	chr16:75080400-75087800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr16:75080400-75088200	Weak transcription	Lung	lung
32	chr16:75081400-75086400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr16:75082000-75085800	Weak transcription	Colon Smooth Muscle	Colon
34	chr16:75082000-75086400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr16:75082000-75088200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:75082200-75086400	Weak transcription	Right Atrium	heart
37	chr16:75082400-75086000	Weak transcription	Stomach Mucosa	stomach
38	chr16:75082400-75087600	Weak transcription	Brain Anterior Caudate	brain
39	chr16:75082600-75086400	Weak transcription	Psoas Muscle	Psoas
40	chr16:75082600-75086400	Weak transcription	Right Ventricle	heart
41	chr16:75082600-75087800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:75082800-75086000	Weak transcription	Thymus	Thymus
43	chr16:75082800-75086200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr16:75082800-75086400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr16:75082800-75086600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr16:75082800-75087600	Weak transcription	Adipose Nuclei	Adipose
47	chr16:75082800-75087600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr16:75082800-75087600	Weak transcription	HUVEC	blood vessel
49	chr16:75082800-75087800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:75082800-75087800	Weak transcription	HSMM	muscle

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