Variant report

Variant	rs74027296
Chromosome Location	chr16:71764656-71764657
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71762201..71765356-chr16:71767095..71769996,3	K562	blood:
2	chr16:71755440..71760927-chr16:71762234..71766346,5	K562	blood:
3	chr16:71756698..71758936-chr16:71764476..71768117,3	MCF-7	breast:
4	chr16:71760858..71762927-chr16:71764626..71767390,2	MCF-7	breast:
5	chr16:71763234..71765356-chr16:71767095..71769996,2	K562	blood:

Variant related genes	Relation type
ENSG00000260612	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs58058795	1.00[AFR][1000 genomes]
rs58577972	1.00[AMR][1000 genomes]
rs58631676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59676185	1.00[AMR][1000 genomes]
rs59786870	1.00[AMR][1000 genomes]
rs74027252	1.00[AMR][1000 genomes]
rs74027254	1.00[AMR][1000 genomes]
rs74027256	1.00[AMR][1000 genomes]
rs74027261	1.00[AMR][1000 genomes]
rs74027262	1.00[AMR][1000 genomes]
rs74027273	1.00[AMR][1000 genomes]
rs74027275	1.00[AMR][1000 genomes]
rs74027297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027299	1.00[AFR][1000 genomes];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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers 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	14 gene(s)	inside rSNPs	n/a
5	nsv960025	chr16:71763047-71765882	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71758200-71765200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:71758200-71766200	Weak transcription	Gastric	stomach
3	chr16:71758400-71764800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:71758400-71765400	Weak transcription	Fetal Brain Female	brain
5	chr16:71758400-71765600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr16:71758400-71765600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr16:71758400-71765600	Weak transcription	Brain Substantia Nigra	brain
8	chr16:71758400-71765600	Weak transcription	Fetal Brain Male	brain
9	chr16:71758400-71765600	Weak transcription	Fetal Lung	lung
10	chr16:71758400-71765600	Weak transcription	Pancreas	Pancrea
11	chr16:71758400-71765600	Weak transcription	Spleen	Spleen
12	chr16:71758400-71765800	Weak transcription	Right Ventricle	heart
13	chr16:71758400-71766200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:71758400-71766200	Weak transcription	Psoas Muscle	Psoas
15	chr16:71758400-71766400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:71758400-71766400	Weak transcription	Esophagus	oesophagus
17	chr16:71758400-71766400	Weak transcription	Right Atrium	heart
18	chr16:71758400-71771000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:71758600-71765400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr16:71758600-71765400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:71758600-71765600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr16:71758600-71765600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:71758600-71766200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr16:71758600-71767400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr16:71758600-71776800	Weak transcription	Fetal Heart	heart
26	chr16:71758800-71765000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr16:71758800-71765600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr16:71758800-71765600	Weak transcription	Stomach Mucosa	stomach
29	chr16:71758800-71766200	Weak transcription	Hela-S3	cervix
30	chr16:71760000-71765600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr16:71760400-71765800	Weak transcription	Lung	lung
32	chr16:71761000-71765400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr16:71761000-71805600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr16:71761200-71765600	Weak transcription	Brain Hippocampus Middle	brain
35	chr16:71761200-71765600	Weak transcription	Colonic Mucosa	Colon
36	chr16:71761200-71765600	Weak transcription	Colon Smooth Muscle	Colon
37	chr16:71761200-71765600	Weak transcription	Ovary	ovary
38	chr16:71761200-71765600	Weak transcription	HepG2	liver
39	chr16:71761400-71766200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr16:71761800-71766200	Weak transcription	Aorta	Aorta
41	chr16:71761800-71778800	Weak transcription	Small Intestine	intestine
42	chr16:71762000-71765200	Weak transcription	Fetal Intestine Small	intestine
43	chr16:71762200-71765000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr16:71762200-71766600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr16:71762200-71811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:71762600-71764800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr16:71762600-71774400	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:71762800-71765800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:71762800-71769400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr16:71763200-71769200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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