Variant report

Variant	rs28602614
Chromosome Location	chr16:71932335-71932336
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:71932103-71932363	K562	blood:	n/a	n/a
2	POLR2A	chr16:71932325-71932362	K562	blood:	n/a	n/a
3	POLR2A	chr16:71932273-71932810	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71931575..71934137-chr16:71950822..71953492,2	MCF-7	breast:
2	chr16:71878320..71880402-chr16:71929242..71933378,4	MCF-7	breast:
3	chr16:71929970..71932998-chr16:71952269..71954857,3	K562	blood:
4	chr16:71916766..71921844-chr16:71926616..71932994,12	K562	blood:
5	chr16:71931560..71934913-chr16:71937416..71939939,3	K562	blood:

No data

Variant related genes	Relation type
ZNF821	TF binding region
ENSG00000102984	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000224470	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11075909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11859593	1.00[EUR][1000 genomes]
rs11861316	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11863771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11865439	1.00[EUR][1000 genomes]
rs11867138	1.00[EUR][1000 genomes]
rs13330881	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28421940	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28560350	1.00[AMR][1000 genomes]
rs28654218	1.00[AMR][1000 genomes]
rs35999277	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187418	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7193401	1.00[EUR][1000 genomes]
rs73574480	1.00[AMR][1000 genomes]
rs73578401	0.87[AMR][1000 genomes]
rs73586193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73588120	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73588121	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8050993	1.00[EUR][1000 genomes]
rs8051202	1.00[AMR][1000 genomes]
rs8051875	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8054602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9928364	1.00[AMR][1000 genomes]
rs9938542	1.00[AMR][1000 genomes]
rs9939404	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71930400-71934800	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr16:71930600-71932400	Enhancers	Aorta	Aorta
3	chr16:71930600-71934200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:71930800-71932400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:71930800-71932400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr16:71930800-71933400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr16:71930800-71933600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr16:71930800-71934000	Enhancers	Ovary	ovary
9	chr16:71930800-71934400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:71930800-71934800	Enhancers	Small Intestine	intestine
11	chr16:71930800-71935400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr16:71930800-71935400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr16:71930800-71943200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr16:71930800-71944200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr16:71930800-71950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:71930800-71951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:71931000-71934000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr16:71931000-71934600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:71931000-71934600	Enhancers	Colon Smooth Muscle	Colon
20	chr16:71931000-71937000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:71931000-71937800	Enhancers	Primary B cells from peripheral blood	blood
22	chr16:71931000-71942800	Weak transcription	Fetal Heart	heart
23	chr16:71931000-71949400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:71931000-71949600	Weak transcription	NHEK	skin
25	chr16:71931200-71932600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr16:71931200-71933200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr16:71931200-71933200	Weak transcription	Fetal Muscle Leg	muscle
28	chr16:71931200-71933200	Weak transcription	Placenta	Placenta
29	chr16:71931200-71933600	Strong transcription	Fetal Intestine Small	intestine
30	chr16:71931200-71933600	Strong transcription	Fetal Stomach	stomach
31	chr16:71931200-71934000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr16:71931200-71934000	Enhancers	Left Ventricle	heart
33	chr16:71931200-71934000	Weak transcription	Psoas Muscle	Psoas
34	chr16:71931200-71934000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr16:71931200-71934000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr16:71931200-71934000	Weak transcription	NHLF	lung
37	chr16:71931200-71934200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr16:71931200-71934200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr16:71931200-71934400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr16:71931200-71934600	Enhancers	Brain Hippocampus Middle	brain
41	chr16:71931200-71934800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:71931200-71935000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:71931200-71935600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr16:71931200-71935800	Weak transcription	NH-A	brain
45	chr16:71931200-71936600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr16:71931200-71936800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr16:71931200-71936800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr16:71931200-71936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:71931200-71937000	Weak transcription	Brain Germinal Matrix	brain
50	chr16:71931200-71938200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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