Variant report

Variant	rs2972807
Chromosome Location	chr16:30666119-30666120
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000080603	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000222287	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2919430	0.90[AFR][1000 genomes]
rs2919431	0.94[AFR][1000 genomes]
rs2919432	0.84[AFR][1000 genomes]
rs2972804	0.90[AFR][1000 genomes]
rs2972808	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972809	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972815	0.84[AFR][1000 genomes]
rs4889500	0.94[AFR][1000 genomes]
rs55635617	0.94[AFR][1000 genomes]
rs56209507	0.94[AFR][1000 genomes]
rs57225118	0.94[AFR][1000 genomes]
rs57643871	0.90[AFR][1000 genomes]
rs73536457	0.84[AFR][1000 genomes]
rs73536466	0.94[AFR][1000 genomes]
rs73536474	0.94[AFR][1000 genomes]
rs73536488	0.84[AFR][1000 genomes]
rs73536498	0.94[AFR][1000 genomes]
rs73536499	0.94[AFR][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:121 , 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	chr16:30663800-30666600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:30663800-30667400	Strong transcription	Esophagus	oesophagus
5	chr16:30663800-30667600	Strong transcription	Ovary	ovary
6	chr16:30663800-30668000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr16:30663800-30668000	Strong transcription	Thymus	Thymus
8	chr16:30663800-30668200	Strong transcription	Primary T cells from cord blood	blood
9	chr16:30664000-30666200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:30664000-30666600	Weak transcription	A549	lung
11	chr16:30664000-30666600	Weak transcription	HSMMtube	muscle
12	chr16:30664000-30666800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr16:30664000-30667200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:30664000-30667400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr16:30664000-30667400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr16:30664000-30667600	Strong transcription	Aorta	Aorta
17	chr16:30664000-30667800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
18	chr16:30664000-30667800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr16:30664000-30667800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr16:30664000-30668000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr16:30664000-30668000	Strong transcription	Fetal Intestine Large	intestine
22	chr16:30664000-30668000	Strong transcription	NHLF	lung
23	chr16:30664000-30668000	Strong transcription	Osteobl	bone
24	chr16:30664000-30668200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr16:30664000-30668200	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr16:30664000-30668200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr16:30664000-30668200	Strong transcription	Brain Substantia Nigra	brain
28	chr16:30664000-30668200	Strong transcription	Fetal Intestine Small	intestine
29	chr16:30664000-30668200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr16:30664000-30668200	Weak transcription	Stomach Mucosa	stomach
31	chr16:30664000-30668200	Strong transcription	NHEK	skin
32	chr16:30664000-30668400	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr16:30664000-30668400	Strong transcription	HSMM	muscle
34	chr16:30664000-30668600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr16:30664000-30669200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:30664200-30666600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr16:30664200-30666600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:30664200-30666600	Weak transcription	NHDF-Ad	bronchial
39	chr16:30664200-30667200	Strong transcription	Fetal Thymus	thymus
40	chr16:30664200-30667400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:30664200-30667400	Strong transcription	HUVEC	blood vessel
42	chr16:30664200-30667800	Strong transcription	Right Ventricle	heart
43	chr16:30664200-30667800	Strong transcription	HepG2	liver
44	chr16:30664200-30668000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr16:30664200-30668000	Strong transcription	Adipose Nuclei	Adipose
46	chr16:30664200-30668000	Strong transcription	Liver	Liver
47	chr16:30664200-30668000	Strong transcription	Brain Angular Gyrus	brain
48	chr16:30664200-30668000	Strong transcription	Placenta	Placenta
49	chr16:30664200-30668000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr16:30664200-30668200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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