Variant report

Variant	rs11863778
Chromosome Location	chr16:74764889-74764890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74763357..74765957-chr16:74768592..74772326,4	MCF-7	breast:
2	chr16:74699270..74701792-chr16:74764287..74767068,2	MCF-7	breast:
3	chr16:74764483..74765024-chr16:74777063..74777908,2	MCF-7	breast:
4	chr16:74756655..74761508-chr16:74762443..74765535,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168411	Chromatin interaction
ENSG00000262904	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2240256	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs241369	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61098432	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6564161	0.84[ASN][1000 genomes]
rs6564163	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73614684	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73614686	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73614696	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1061948	chr16:74660609-74882915	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
5	nsv542957	chr16:74660609-74882915	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
6	nsv906906	chr16:74664743-74805668	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	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
8	nsv906907	chr16:74702254-74785902	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
9	nsv517513	chr16:74743736-74812676	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
10	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
13	nsv457520	chr16:74758984-74907440	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
14	nsv572976	chr16:74758984-74907440	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74761400-74768200	Weak transcription	Fetal Stomach	stomach
2	chr16:74761800-74765000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr16:74762200-74772400	Enhancers	Fetal Thymus	thymus
4	chr16:74763200-74765200	Enhancers	Primary hematopoietic stem cells	blood
5	chr16:74763200-74765800	Enhancers	Brain Hippocampus Middle	brain
6	chr16:74763200-74766000	Enhancers	Stomach Mucosa	stomach
7	chr16:74763200-74767000	Enhancers	Fetal Intestine Small	intestine
8	chr16:74763200-74779000	Weak transcription	Right Atrium	heart
9	chr16:74763400-74765000	Enhancers	Esophagus	oesophagus
10	chr16:74763400-74765000	Enhancers	A549	lung
11	chr16:74763400-74767200	Enhancers	Fetal Intestine Large	intestine
12	chr16:74763400-74769600	Enhancers	Thymus	Thymus
13	chr16:74763600-74765000	Enhancers	Brain Anterior Caudate	brain
14	chr16:74763600-74766000	Enhancers	Brain Cingulate Gyrus	brain
15	chr16:74763600-74766000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr16:74764000-74765000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:74764000-74766800	Enhancers	HepG2	liver
18	chr16:74764000-74768400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr16:74764000-74781800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr16:74764200-74765200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr16:74764200-74767800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:74764200-74768400	Weak transcription	NH-A	brain
23	chr16:74764400-74765000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr16:74764400-74765000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:74764400-74767600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:74764400-74767800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr16:74764400-74768000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr16:74764400-74768200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr16:74764400-74768200	Weak transcription	Fetal Lung	lung
30	chr16:74764400-74776000	Weak transcription	Spleen	Spleen
31	chr16:74764600-74765000	Enhancers	NHEK	skin
32	chr16:74764600-74766800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:74764600-74766800	Weak transcription	Gastric	stomach
34	chr16:74764600-74767400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:74764600-74767400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr16:74764600-74767600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr16:74764600-74767600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr16:74764600-74767600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr16:74764600-74767800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:74764600-74767800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr16:74764600-74768200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr16:74764800-74765000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr16:74764800-74765200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:74764800-74765200	Enhancers	Hela-S3	cervix
45	chr16:74764800-74766000	Enhancers	Brain Substantia Nigra	brain
46	chr16:74764800-74767400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr16:74764800-74767400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr16:74764800-74767600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr16:74764800-74767800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:74764800-74768000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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