Variant report

Variant	rs4319763
Chromosome Location	chr16:81813397-81813398
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	chr16:81812978..81813631-chr16:81907214..81907808,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11643895	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4254322	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4398100	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4410068	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4476173	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888174	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56704282	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7198003	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7198169	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9937776	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9944351	0.81[AFR][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	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3372455	chr16:81810851-81815149	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3343864	chr16:81812151-81814049	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81811800-81813400	Active TSS	K562	blood
2	chr16:81812000-81814000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr16:81812200-81813600	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr16:81812200-81813600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:81812200-81813800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr16:81812200-81813800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr16:81812200-81814000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr16:81812200-81814000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr16:81812200-81814000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr16:81812200-81814000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr16:81812200-81814200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr16:81812200-81814200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:81812200-81814200	Bivalent/Poised TSS	Fetal Kidney	kidney
14	chr16:81812400-81813400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr16:81812400-81813400	Active TSS	Liver	Liver
16	chr16:81812400-81813400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:81812400-81813400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr16:81812400-81813400	Active TSS	Lung	lung
19	chr16:81812400-81813400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
20	chr16:81812400-81813400	Active TSS	Rectal Smooth Muscle	rectum
21	chr16:81812400-81813400	Active TSS	A549	lung
22	chr16:81812400-81813600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:81812400-81813600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr16:81812400-81813600	Active TSS	Brain Anterior Caudate	brain
25	chr16:81812400-81813600	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr16:81812400-81813600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
27	chr16:81812400-81813600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
28	chr16:81812400-81813600	Active TSS	Hela-S3	cervix
29	chr16:81812400-81813800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr16:81812400-81813800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:81812400-81813800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr16:81812400-81813800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:81812400-81813800	Active TSS	Colon Smooth Muscle	Colon
34	chr16:81812400-81813800	Active TSS	Left Ventricle	heart
35	chr16:81812400-81814000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:81812400-81814000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr16:81812400-81814000	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr16:81812400-81814000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
39	chr16:81812400-81814000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr16:81812400-81815000	Active TSS	GM12878-XiMat	blood
41	chr16:81812600-81813400	Active TSS	Primary B cells from cord blood	blood
42	chr16:81812600-81813400	Active TSS	Primary T cells from cord blood	blood
43	chr16:81812600-81813400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr16:81812600-81813400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
45	chr16:81812600-81813400	Active TSS	Placenta	Placenta
46	chr16:81812600-81813400	Active TSS	Gastric	stomach
47	chr16:81812600-81813400	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr16:81812600-81813400	Bivalent/Poised TSS	Osteobl	bone
49	chr16:81812600-81813600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr16:81812600-81813600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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