Variant report

Variant	rs62057174
Chromosome Location	chr16:30666803-30666804
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	chr16:30666163-30666973	K562	blood:	n/a	n/a
2	POLR2A	chr16:30666760-30666957	K562	blood:	n/a	n/a
3	POLR2A	chr16:30666701-30667043	GM12892	blood:	n/a	n/a
4	POLR2A	chr16:30666500-30667389	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:30666529-30666980	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30665738..30673826-chr16:30707321..30713630,33	K562	blood:
2	chr16:30665347..30684079-chr16:30697204..30714344,66	MCF-7	breast:
3	chr16:30455506..30458310-chr16:30666294..30667926,2	K562	blood:

Variant related genes	Relation type
FBRS	TF binding region
PRR14	TF binding region
ENSG00000222287	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000179918	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62057183	1.00[ASN][1000 genomes]
rs62057184	1.00[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	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
8	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
9	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30663600-30668400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr16:30663600-30668800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:30663800-30667400	Strong transcription	Esophagus	oesophagus
4	chr16:30663800-30667600	Strong transcription	Ovary	ovary
5	chr16:30663800-30668000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:30663800-30668000	Strong transcription	Thymus	Thymus
7	chr16:30663800-30668200	Strong transcription	Primary T cells from cord blood	blood
8	chr16:30664000-30667200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:30664000-30667400	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr16:30664000-30667400	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr16:30664000-30667600	Strong transcription	Aorta	Aorta
12	chr16:30664000-30667800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
13	chr16:30664000-30667800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr16:30664000-30667800	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr16:30664000-30668000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr16:30664000-30668000	Strong transcription	Fetal Intestine Large	intestine
17	chr16:30664000-30668000	Strong transcription	NHLF	lung
18	chr16:30664000-30668000	Strong transcription	Osteobl	bone
19	chr16:30664000-30668200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:30664000-30668200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr16:30664000-30668200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr16:30664000-30668200	Strong transcription	Brain Substantia Nigra	brain
23	chr16:30664000-30668200	Strong transcription	Fetal Intestine Small	intestine
24	chr16:30664000-30668200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr16:30664000-30668200	Weak transcription	Stomach Mucosa	stomach
26	chr16:30664000-30668200	Strong transcription	NHEK	skin
27	chr16:30664000-30668400	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr16:30664000-30668400	Strong transcription	HSMM	muscle
29	chr16:30664000-30668600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr16:30664000-30669200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr16:30664200-30667200	Strong transcription	Fetal Thymus	thymus
32	chr16:30664200-30667400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr16:30664200-30667400	Strong transcription	HUVEC	blood vessel
34	chr16:30664200-30667800	Strong transcription	Right Ventricle	heart
35	chr16:30664200-30667800	Strong transcription	HepG2	liver
36	chr16:30664200-30668000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr16:30664200-30668000	Strong transcription	Adipose Nuclei	Adipose
38	chr16:30664200-30668000	Strong transcription	Liver	Liver
39	chr16:30664200-30668000	Strong transcription	Brain Angular Gyrus	brain
40	chr16:30664200-30668000	Strong transcription	Placenta	Placenta
41	chr16:30664200-30668000	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr16:30664200-30668200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:30664200-30668200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:30664200-30668200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr16:30664200-30668200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr16:30664200-30668200	Strong transcription	Brain Cingulate Gyrus	brain
47	chr16:30664200-30668200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:30664200-30668200	Strong transcription	K562	blood
49	chr16:30664200-30668200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr16:30664200-30668400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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