Variant report

Variant	rs56401738
Chromosome Location	chr16:81300631-81300632
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81299252..81302248-chr16:81302425..81304066,2	MCF-7	breast:
2	chr16:81299764..81301490-chr16:81383537..81384858,4	MCF-7	breast:
3	chr16:81295184..81306354-chr16:81346133..81353360,18	MCF-7	breast:
4	chr16:81298705..81303185-chr16:81306285..81312157,8	MCF-7	breast:
5	chr16:81297782..81301485-chr16:81326515..81330018,4	MCF-7	breast:
6	chr16:81292493..81305608-chr16:81343220..81354506,32	MCF-7	breast:
7	chr16:81299915..81302121-chr16:81315991..81317511,2	MCF-7	breast:
8	chr16:81298425..81302121-chr16:81361527..81366002,4	MCF-7	breast:
9	chr16:81295681..81298455-chr16:81299026..81301212,3	MCF-7	breast:
10	chr16:81296996..81300713-chr16:81369954..81373640,4	MCF-7	breast:
11	chr16:81299744..81301452-chr16:81327574..81330575,3	MCF-7	breast:
12	chr16:81297837..81303804-chr16:81307756..81314186,17	MCF-7	breast:
13	chr16:81041195..81043278-chr16:81298968..81300787,2	MCF-7	breast:
14	chr16:81299078..81302061-chr16:81436306..81439143,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260495	Chromatin interaction
ENSG00000261609	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60281792	1.00[ASN][1000 genomes]
rs7189672	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7189674	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7190165	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7202895	1.00[ASN][1000 genomes]
rs9924227	0.98[EUR][1000 genomes]
rs9936743	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9937486	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
3	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	49 gene(s)	inside rSNPs	diseases
4	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv527288	chr16:81204188-81310947	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv1067235	chr16:81204423-81303759	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv1063482	chr16:81207377-81303759	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv1064529	chr16:81223243-81303759	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv2830030	chr16:81238818-81303759	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	esv2755860	chr16:81262516-81333568	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	esv3395308	chr16:81297151-81301649	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81284600-81324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:81299200-81301000	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr16:81299200-81301400	Enhancers	Colonic Mucosa	Colon
4	chr16:81299200-81302000	Enhancers	Stomach Mucosa	stomach
5	chr16:81299400-81300800	Enhancers	Fetal Intestine Large	intestine
6	chr16:81299400-81300800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr16:81299400-81300800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr16:81299600-81300800	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr16:81299600-81300800	Enhancers	Fetal Stomach	stomach
10	chr16:81299600-81300800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr16:81299600-81301000	Enhancers	Fetal Intestine Small	intestine
12	chr16:81299800-81301000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:81299800-81301000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:81299800-81301000	Enhancers	NHEK	skin
15	chr16:81299800-81301600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr16:81300200-81300800	Enhancers	Rectal Smooth Muscle	rectum
17	chr16:81300200-81300800	Flanking Active TSS	Hela-S3	cervix
18	chr16:81300200-81300800	Enhancers	HMEC	breast
19	chr16:81300200-81308600	Weak transcription	Gastric	stomach
20	chr16:81300200-81311000	Weak transcription	Brain Anterior Caudate	brain
21	chr16:81300400-81300800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:81300400-81300800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr16:81300400-81301200	Enhancers	Colon Smooth Muscle	Colon
24	chr16:81300400-81306800	Weak transcription	Esophagus	oesophagus
25	chr16:81300400-81312200	Weak transcription	Right Atrium	heart
26	chr16:81300600-81300800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr16:81300600-81308600	Weak transcription	Brain Hippocampus Middle	brain
28	chr16:81300600-81310000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:81300600-81310000	Weak transcription	Spleen	Spleen

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