Variant report

Variant	rs12930621
Chromosome Location	chr16:31454952-31454953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr16:31454904-31455045	K562	blood:	n/a	n/a
2	HEY1	chr16:31454126-31454957	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31452353..31455604-chr16:31463840..31468906,4	MCF-7	breast:
2	chr16:31453017..31458651-chr16:31467711..31471563,6	K562	blood:
3	chr16:31453146..31459042-chr16:31460540..31465724,10	K562	blood:
4	chr16:31396941..31397680-chr16:31454467..31454971,2	MCF-7	breast:
5	chr16:31190412..31192791-chr16:31452849..31455958,6	MCF-7	breast:
6	chr16:31340966..31343264-chr16:31454013..31455624,2	MCF-7	breast:
7	chr16:30996180..30999637-chr16:31452059..31455505,4	MCF-7	breast:
8	chr16:31453063..31456087-chr16:31468584..31471837,4	K562	blood:
9	chr16:30995913..30997388-chr16:31454030..31455031,5	MCF-7	breast:
10	chr16:31189986..31193003-chr16:31453112..31456004,3	MCF-7	breast:
11	chr16:30995638..30997439-chr16:31453989..31455766,2	MCF-7	breast:
12	chr16:31438871..31441365-chr16:31452629..31455736,3	MCF-7	breast:
13	chr16:31454366..31455981-chr16:31456351..31459046,2	K562	blood:

No data

Variant related genes	Relation type
ZNF843	TF binding region
ENSG00000156885	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000261474	Chromatin interaction
ENSG00000169896	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000260267	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10596	0.84[AMR][1000 genomes]
rs11150624	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1135265	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11643752	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11646911	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12923122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4313820	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4889661	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
5	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
6	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
7	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS 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	96 gene(s)	inside rSNPs	diseases
8	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
9	nsv905751	chr16:31431360-31489033	Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
10	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
11	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
12	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31454400-31462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:31454400-31462800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:31454600-31455400	Weak transcription	HepG2	liver
4	chr16:31454600-31455400	Weak transcription	NHEK	skin
5	chr16:31454600-31455600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr16:31454600-31455600	Enhancers	A549	lung
7	chr16:31454600-31462600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:31454600-31462800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:31454600-31462800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:31454600-31462800	Weak transcription	Fetal Stomach	stomach
11	chr16:31454600-31463000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr16:31454600-31463000	Weak transcription	Right Atrium	heart
13	chr16:31454600-31463800	Weak transcription	Esophagus	oesophagus
14	chr16:31454600-31464600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:31454600-31466400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr16:31454800-31455400	Weak transcription	Fetal Intestine Small	intestine
17	chr16:31454800-31457400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:31454800-31462800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:31454800-31462800	Weak transcription	Fetal Muscle Leg	muscle
20	chr16:31454800-31462800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:31454800-31463000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:31454800-31466400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr16:31454800-31466400	Weak transcription	Primary T cells from cord blood	blood
24	chr16:31454800-31466400	Weak transcription	Dnd41	blood
25	chr16:31454800-31466600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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