Variant report

Variant	rs7184055
Chromosome Location	chr16:30640550-30640551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:30640500-30640650	GM12875	blood:	n/a	n/a
2	CTCF	chr16:30640053-30640557	HCT-116	colon:	n/a	n/a
3	GTF2B	chr16:30640174-30640557	K562	blood:	n/a	n/a
4	CTCF	chr16:30639913-30640665	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr16:30639970-30640604	HCT-116	colon:	n/a	chr16:30640435-30640444
6	TCF7L2	chr16:30640077-30640556	HEK293	kidney:	n/a	chr16:30640237-30640251
7	CTCF	chr16:30640518-30640622	GM12878	blood:	n/a	n/a
8	RAD21	chr16:30639953-30640583	HCT-116	colon:	n/a	chr16:30640435-30640444
9	SMC3	chr16:30639999-30640753	SK-N-SH	brain:	n/a	n/a
10	NFYA	chr16:30640178-30640591	K562	blood:	n/a	n/a
11	RAD21	chr16:30639953-30640558	A549	lung:	n/a	chr16:30640435-30640444
12	HCFC1	chr16:30639868-30640838	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr16:30640520-30640670	GM12867	blood:	n/a	n/a
14	CTCF	chr16:30639895-30640569	A549	lung:	n/a	n/a
15	POLR2A	chr16:30640489-30640801	K562	blood:	n/a	n/a
16	CTCF	chr16:30640500-30640650	AG04449	skin:	n/a	n/a
17	RAD21	chr16:30639898-30640721	SK-N-SH	brain:	n/a	chr16:30640435-30640444
18	CTCF	chr16:30640520-30640670	HRE	kidney:	n/a	n/a
19	CTCF	chr16:30639917-30640655	HCT-116	colon:	n/a	n/a
20	STAT3	chr16:30640501-30640841	MCF10A-Er-Src	breast:	n/a	n/a
21	CTCF	chr16:30640506-30640634	GM13977	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30617317..30620136-chr16:30639446..30642000,2	K562	blood:
2	chr16:30535774..30538341-chr16:30638616..30641301,3	MCF-7	breast:
3	chr16:30640289..30641957-chr16:30643938..30645571,2	K562	blood:
4	chr16:30639009..30641962-chr16:30644620..30646873,2	MCF-7	breast:
5	chr16:30370896..30371772-chr16:30640037..30640734,2	MCF-7	breast:
6	chr16:30441082..30442394-chr16:30639571..30640733,5	K562	blood:
7	chr16:30595303..30597100-chr16:30638655..30641608,2	MCF-7	breast:
8	chr16:30429607..30431783-chr16:30638612..30641034,2	MCF-7	breast:
9	chr16:30441187..30442115-chr16:30639784..30640702,8	MCF-7	breast:
10	chr16:30640409..30642631-chr16:30670637..30672923,2	MCF-7	breast:
11	chr16:30640142..30641957-chr16:30643713..30645899,3	K562	blood:
12	chr16:30631964..30634523-chr16:30638900..30640577,2	MCF-7	breast:
13	chr16:30638840..30641606-chr16:30661205..30662742,2	MCF-7	breast:
14	chr16:30438921..30441839-chr16:30640349..30642308,3	MCF-7	breast:
15	chr16:30439565..30443046-chr16:30640159..30642380,3	MCF-7	breast:
16	chr16:30441457..30442175-chr16:30639765..30640742,5	MCF-7	breast:
17	chr16:30609239..30609773-chr16:30640020..30640552,2	K562	blood:
18	chr16:30621055..30622609-chr16:30640051..30642203,2	MCF-7	breast:
19	chr16:30555913..30558805-chr16:30639399..30642318,2	K562	blood:
20	chr16:30609228..30610120-chr16:30639831..30640577,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261680	TF binding region
ENSG00000179958	Chromatin interaction
ENSG00000199787	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000156858	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12918327	0.87[ASN][1000 genomes]
rs28728333	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28841118	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34699226	0.80[ASN][1000 genomes]
rs35661204	0.82[ASN][1000 genomes]
rs36064568	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4485386	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55875685	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6565195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6565196	0.85[EUR][1000 genomes]
rs67693285	0.89[ASN][1000 genomes]
rs7185620	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7186852	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7187071	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7187802	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188789	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7191389	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7191761	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7194347	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7197475	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7204632	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7499339	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9925025	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9927137	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
7	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7184055	KAT8	cis	Artery Tibial	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30638200-30642000	Enhancers	HepG2	liver
2	chr16:30638200-30645000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr16:30639400-30640600	Enhancers	Dnd41	blood
4	chr16:30639800-30641000	Enhancers	Fetal Thymus	thymus
5	chr16:30640000-30640600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr16:30640000-30640600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:30640000-30640600	Enhancers	Primary B cells from peripheral blood	blood
8	chr16:30640000-30640600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr16:30640000-30640600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr16:30640000-30640600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr16:30640000-30640600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr16:30640000-30640600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr16:30640000-30640600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr16:30640000-30640600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr16:30640000-30640600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr16:30640000-30640600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr16:30640000-30640600	Enhancers	Hela-S3	cervix
18	chr16:30640000-30640600	Enhancers	NH-A	brain
19	chr16:30640200-30640600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr16:30640200-30644000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr16:30640200-30644800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr16:30640200-30644800	Weak transcription	Fetal Muscle Leg	muscle
23	chr16:30640200-30644800	Weak transcription	Thymus	Thymus
24	chr16:30640200-30645000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr16:30640200-30645000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr16:30640200-30645000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr16:30640200-30645000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr16:30640200-30645000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:30640200-30645000	Weak transcription	Adipose Nuclei	Adipose
30	chr16:30640200-30645000	Weak transcription	Colonic Mucosa	Colon
31	chr16:30640200-30645000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr16:30640200-30645000	Weak transcription	Fetal Brain Male	brain
33	chr16:30640200-30645000	Weak transcription	Fetal Intestine Small	intestine
34	chr16:30640200-30645000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr16:30640200-30645000	Weak transcription	Placenta	Placenta
36	chr16:30640200-30645000	Weak transcription	Fetal Stomach	stomach
37	chr16:30640200-30645000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr16:30640200-30645000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr16:30640200-30645000	Weak transcription	Right Atrium	heart
40	chr16:30640200-30645000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr16:30640400-30640600	Enhancers	Primary T cells from cord blood	blood
42	chr16:30640400-30640600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr16:30640400-30640600	Enhancers	Brain Anterior Caudate	brain
44	chr16:30640400-30640600	Enhancers	Brain Cingulate Gyrus	brain
45	chr16:30640400-30640600	Enhancers	Fetal Kidney	kidney
46	chr16:30640400-30640600	Enhancers	GM12878-XiMat	blood
47	chr16:30640400-30640600	Flanking Active TSS	K562	blood
48	chr16:30640400-30640800	Enhancers	A549	lung
49	chr16:30640400-30641400	Weak transcription	Osteobl	bone
50	chr16:30640400-30644800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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