Variant report

Variant	rs6565193
Chromosome Location	chr16:30600260-30600261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30600260-30600292	K562	blood:	n/a	n/a
2	POLR2A	chr16:30598989-30600714	K562	blood:	n/a	n/a
3	POLR2A	chr16:30599895-30600645	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30544664..30548849-chr16:30597277..30601099,4	K562	blood:
2	chr16:30456152..30458044-chr16:30600232..30603027,2	MCF-7	breast:
3	chr16:30541481..30548892-chr16:30595486..30600580,13	MCF-7	breast:

Variant related genes	Relation type
ZNF785	TF binding region
ENSG00000261588	TF binding region
ENSG00000261459	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000169955	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12102367	1.00[ASN][1000 genomes]
rs17839548	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56153335	1.00[ASN][1000 genomes]
rs59151595	1.00[ASN][1000 genomes]
rs6565191	1.00[ASN][1000 genomes]
rs72793351	1.00[ASN][1000 genomes]
rs8063005	1.00[ASN][1000 genomes]
rs9673428	1.00[ASN][1000 genomes]
rs9924077	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934806	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv542899	chr16:30575260-30612385	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic 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 target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30588600-30601600	Weak transcription	HepG2	liver
2	chr16:30597800-30600400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr16:30597800-30600600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr16:30597800-30600800	Weak transcription	NHLF	lung
5	chr16:30597800-30601800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr16:30597800-30603600	Weak transcription	NH-A	brain
7	chr16:30597800-30608800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr16:30597800-30609200	Weak transcription	Brain Angular Gyrus	brain
9	chr16:30597800-30609400	Weak transcription	Brain Hippocampus Middle	brain
10	chr16:30597800-30609400	Weak transcription	Brain Substantia Nigra	brain
11	chr16:30597800-30609600	Weak transcription	Adipose Nuclei	Adipose
12	chr16:30597800-30613400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:30597800-30613400	Weak transcription	Brain Anterior Caudate	brain
14	chr16:30597800-30613400	Weak transcription	Spleen	Spleen
15	chr16:30597800-30613600	Weak transcription	Fetal Lung	lung
16	chr16:30597800-30613600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr16:30597800-30613800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr16:30597800-30613800	Weak transcription	HSMM	muscle
19	chr16:30597800-30614000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:30597800-30614000	Weak transcription	Left Ventricle	heart
21	chr16:30597800-30614000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr16:30597800-30614000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr16:30597800-30614200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:30597800-30614200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:30597800-30614200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr16:30597800-30614200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr16:30597800-30614400	Weak transcription	Ovary	ovary
28	chr16:30597800-30614800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr16:30597800-30615000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:30597800-30615000	Weak transcription	Fetal Kidney	kidney
31	chr16:30597800-30615200	Weak transcription	Esophagus	oesophagus
32	chr16:30597800-30615600	Weak transcription	Right Atrium	heart
33	chr16:30597800-30615600	Weak transcription	Small Intestine	intestine
34	chr16:30598000-30601600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr16:30598000-30605800	Weak transcription	Osteobl	bone
36	chr16:30598000-30606000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr16:30598000-30613200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr16:30598000-30613400	Weak transcription	Primary T cells from cord blood	blood
39	chr16:30598000-30613400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:30598000-30613600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr16:30598000-30614000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr16:30598000-30614000	Weak transcription	HMEC	breast
43	chr16:30598000-30614200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr16:30598000-30614200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr16:30598000-30615400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:30598200-30613400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr16:30598400-30601400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr16:30598400-30601400	Weak transcription	Fetal Intestine Large	intestine
49	chr16:30598400-30609400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:30598400-30612000	Weak transcription	Fetal Brain Female	brain

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