Variant report

Variant	rs62046628
Chromosome Location	chr16:81584600-81584601
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81550713..81552453-chr16:81584328..81586999,2	K562	blood:
2	chr16:81480210..81481743-chr16:81584414..81586701,2	K562	blood:
3	chr16:81580564..81583241-chr16:81583490..81586012,3	K562	blood:
4	chr16:81581234..81583054-chr16:81583283..81584889,2	MCF-7	breast:
5	chr16:81576839..81579779-chr16:81583456..81585257,2	K562	blood:
6	chr16:81576372..81580731-chr16:81581610..81586279,4	MCF-7	breast:
7	chr16:81574586..81576745-chr16:81584543..81587499,2	K562	blood:
8	chr16:81478629..81480173-chr16:81583912..81585599,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs62046625	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	esv2754804	chr16:81579729-81606569	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1898	chr16:81581637-81626505	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3412942	chr16:81584538-81584746	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81556000-81590000	Weak transcription	Dnd41	blood
2	chr16:81560600-81584800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:81565200-81588200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:81566600-81584600	Weak transcription	Fetal Brain Female	brain
5	chr16:81570800-81594200	Weak transcription	Hela-S3	cervix
6	chr16:81573600-81594800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr16:81573800-81586400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:81575000-81587600	Enhancers	Lung	lung
9	chr16:81577400-81591600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:81577600-81593200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:81578800-81585800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr16:81578800-81587000	Weak transcription	NHLF	lung
13	chr16:81579000-81584800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:81579000-81585400	Weak transcription	Brain Hippocampus Middle	brain
15	chr16:81579000-81585400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr16:81579000-81585400	Weak transcription	Ovary	ovary
17	chr16:81579000-81586400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:81579200-81584600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr16:81579200-81584600	Weak transcription	Osteobl	bone
20	chr16:81579400-81586800	Weak transcription	Brain Substantia Nigra	brain
21	chr16:81579600-81584800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:81580000-81585400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:81580000-81586000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr16:81580000-81587400	Weak transcription	Primary T cells from cord blood	blood
25	chr16:81580000-81588200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr16:81580200-81585800	Genic enhancers	Fetal Intestine Small	intestine
27	chr16:81580200-81597600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr16:81580400-81587600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr16:81580600-81585200	Enhancers	Fetal Intestine Large	intestine
30	chr16:81580800-81586200	Weak transcription	Brain Anterior Caudate	brain
31	chr16:81581000-81585000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr16:81581000-81585600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr16:81581000-81586600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr16:81581000-81587400	Enhancers	Stomach Mucosa	stomach
35	chr16:81581000-81588400	Weak transcription	Thymus	Thymus
36	chr16:81581000-81589200	Enhancers	Adipose Nuclei	Adipose
37	chr16:81581200-81585400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr16:81581200-81586200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr16:81581200-81588600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:81581400-81588200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:81581400-81588200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr16:81581600-81584800	Weak transcription	Fetal Muscle Leg	muscle
43	chr16:81581600-81585000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr16:81581600-81588000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:81581600-81608400	Weak transcription	Primary B cells from cord blood	blood
46	chr16:81581800-81585400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:81581800-81589200	Enhancers	Pancreas	Pancrea
48	chr16:81582000-81587400	Enhancers	Gastric	stomach
49	chr16:81582000-81587600	Enhancers	Colonic Mucosa	Colon
50	chr16:81582200-81584800	Weak transcription	Brain Cingulate Gyrus	brain

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