Variant report

Variant	rs28736405
Chromosome Location	chr8:131148938-131148939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10099820	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103052	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10104573	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109827	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251129	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13267150	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13276034	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16904203	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2395992	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2670881	0.81[EUR][1000 genomes]
rs2670882	0.81[EUR][1000 genomes]
rs2670886	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2670887	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2791339	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28413707	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28857237	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2994295	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2994296	0.85[EUR][1000 genomes]
rs4733570	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6415509	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6470798	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs66513387	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722357	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7462417	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7825499	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7830887	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7836266	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838372	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131125800-131151800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:131128200-131154800	Weak transcription	Colonic Mucosa	Colon
5	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
6	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:131137600-131154800	Weak transcription	Psoas Muscle	Psoas
8	chr8:131138800-131164600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:131139000-131156000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr8:131140000-131156400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:131140000-131169200	Weak transcription	Brain Angular Gyrus	brain
12	chr8:131141400-131164400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:131142000-131150800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr8:131142200-131151400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:131142200-131153000	Strong transcription	Fetal Muscle Leg	muscle
16	chr8:131142800-131150400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:131142800-131151800	Strong transcription	Primary T cells from cord blood	blood
18	chr8:131143000-131149200	Strong transcription	Liver	Liver
19	chr8:131143000-131150000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr8:131143000-131150200	Strong transcription	Fetal Intestine Large	intestine
21	chr8:131143000-131150600	Strong transcription	Adipose Nuclei	Adipose
22	chr8:131143000-131151200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:131143000-131153200	Strong transcription	Placenta	Placenta
24	chr8:131143000-131155200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:131143200-131149600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:131143200-131151000	Strong transcription	Fetal Stomach	stomach
27	chr8:131143400-131150000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr8:131143400-131150200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:131143400-131153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:131143600-131150200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:131143600-131150400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:131143600-131150800	Strong transcription	Aorta	Aorta
33	chr8:131143800-131149200	Strong transcription	Lung	lung
34	chr8:131143800-131149400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:131143800-131149400	Strong transcription	Ovary	ovary
36	chr8:131143800-131150600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:131144000-131149200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:131144000-131149200	Strong transcription	Brain Hippocampus Middle	brain
39	chr8:131144000-131150600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:131144000-131156400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:131144200-131149000	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:131144200-131149200	Strong transcription	Brain Cingulate Gyrus	brain
43	chr8:131144200-131149200	Strong transcription	HepG2	liver
44	chr8:131144200-131149600	Strong transcription	Fetal Lung	lung
45	chr8:131144200-131150200	Strong transcription	Fetal Brain Female	brain
46	chr8:131144200-131150200	Strong transcription	Fetal Thymus	thymus
47	chr8:131144200-131151400	Strong transcription	Primary B cells from cord blood	blood
48	chr8:131144400-131149000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:131144400-131150800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:131144600-131149600	Strong transcription	Rectal Mucosa Donor 29	rectum

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