Variant report

Variant	rs1822816
Chromosome Location	chr4:82370993-82370994
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11726251	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1348600	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17005141	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55731068	0.86[ASN][1000 genomes]
rs60314010	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6829780	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6847612	0.84[ASN][1000 genomes]
rs72663869	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs755527	0.81[ASN][1000 genomes]
rs9307783	0.80[ASN][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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv4404	chr4:82340986-82386148	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv829986	chr4:82345163-82509860	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82345600-82380600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:82345800-82385800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:82346200-82375800	Strong transcription	Primary B cells from peripheral blood	blood
4	chr4:82346200-82381600	Strong transcription	Fetal Thymus	thymus
5	chr4:82346600-82380800	Strong transcription	Adipose Nuclei	Adipose
6	chr4:82346600-82386600	Weak transcription	Psoas Muscle	Psoas
7	chr4:82346600-82388400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:82346800-82382400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:82347000-82375600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr4:82347200-82378800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:82349000-82374800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:82349000-82385200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:82351000-82377600	Weak transcription	Right Ventricle	heart
14	chr4:82351800-82375000	Weak transcription	Pancreas	Pancrea
15	chr4:82351800-82382800	Weak transcription	Spleen	Spleen
16	chr4:82352400-82390000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:82353800-82375200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:82354200-82390800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:82357400-82372800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:82357800-82375400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:82358600-82372000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:82358600-82374000	Strong transcription	Primary B cells from cord blood	blood
23	chr4:82358800-82380600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:82359000-82375200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr4:82359200-82375600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:82359200-82381000	Strong transcription	Primary T cells from cord blood	blood
27	chr4:82359800-82371200	Strong transcription	Brain Anterior Caudate	brain
28	chr4:82360000-82374400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr4:82361200-82371200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:82361200-82376400	Weak transcription	Aorta	Aorta
31	chr4:82361200-82382800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:82361400-82386600	Weak transcription	Fetal Kidney	kidney
33	chr4:82362000-82373800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:82362200-82389800	Weak transcription	Fetal Brain Male	brain
35	chr4:82362400-82371800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:82362600-82380200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr4:82363600-82390400	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:82363600-82391000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:82364200-82373600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:82366800-82374000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:82367000-82373200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:82367000-82376800	Weak transcription	Dnd41	blood
43	chr4:82367200-82373600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:82367200-82378600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:82367400-82372600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:82368200-82371000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:82368200-82391400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr4:82368800-82383000	Weak transcription	Colon Smooth Muscle	Colon
49	chr4:82369200-82376200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:82369400-82373000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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