Variant report

Variant	rs56727114
Chromosome Location	chr16:70810630-70810631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70802936..70806870-chr16:70807809..70811043,3	K562	blood:
2	chr16:70810135..70811942-chr16:70833088..70835146,2	K562	blood:
3	chr16:70808973..70811179-chr16:70813067..70815044,2	K562	blood:
4	chr16:70809115..70811942-chr16:70833178..70836627,4	K562	blood:
5	chr16:70803133..70806870-chr16:70807809..70811183,4	K562	blood:

Variant related genes	Relation type
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11862431	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970543	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970545	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60817340	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61075342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185218	0.81[AFR][1000 genomes]
rs7199602	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9922097	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv916160	chr16:70809280-71120138	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70772600-70813400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:70773000-70815800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:70773400-70816200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr16:70781200-70826800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:70781800-70815000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr16:70785000-70814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:70785000-70814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:70785000-70825000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr16:70785600-70813000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr16:70785800-70828000	Strong transcription	Primary T cells from cord blood	blood
11	chr16:70786600-70815200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr16:70786800-70815000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr16:70788000-70826600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr16:70794600-70814200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr16:70794600-70816400	Weak transcription	Small Intestine	intestine
16	chr16:70795800-70814400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr16:70797000-70811200	Weak transcription	Right Ventricle	heart
18	chr16:70797000-70813000	Weak transcription	Fetal Kidney	kidney
19	chr16:70797800-70811400	Weak transcription	Left Ventricle	heart
20	chr16:70799200-70824000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr16:70799800-70811200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr16:70802400-70814400	Weak transcription	Stomach Mucosa	stomach
23	chr16:70802400-70825000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr16:70804800-70811200	Weak transcription	Fetal Lung	lung
25	chr16:70804800-70813600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:70805000-70814200	Weak transcription	Colonic Mucosa	Colon
27	chr16:70805000-70815400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr16:70805200-70811200	Weak transcription	Colon Smooth Muscle	Colon
29	chr16:70805200-70811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:70805200-70811400	Weak transcription	Brain Angular Gyrus	brain
31	chr16:70805200-70811400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr16:70805200-70814200	Weak transcription	Aorta	Aorta
33	chr16:70805200-70834000	Weak transcription	Fetal Heart	heart
34	chr16:70805400-70811600	Weak transcription	Ovary	ovary
35	chr16:70805400-70813000	Weak transcription	HUVEC	blood vessel
36	chr16:70805400-70813800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr16:70806000-70811200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr16:70806000-70811400	Weak transcription	Gastric	stomach
39	chr16:70806200-70811400	Weak transcription	Pancreas	Pancrea
40	chr16:70806200-70814400	Weak transcription	Brain Substantia Nigra	brain
41	chr16:70806400-70811400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr16:70806400-70811400	Weak transcription	GM12878-XiMat	blood
43	chr16:70806400-70812800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr16:70806400-70814400	Weak transcription	Psoas Muscle	Psoas
45	chr16:70806600-70811200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:70806600-70811200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr16:70806600-70811200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:70806600-70811400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr16:70806600-70811800	Weak transcription	NHLF	lung
50	chr16:70806600-70814000	Weak transcription	HMEC	breast

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