Variant report

Variant	rs2921791
Chromosome Location	chr8:117862254-117862255
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr8:117862251-117862295	K562	blood:	n/a	n/a
2	POLR2A	chr8:117854796-117865324	K562	blood:	n/a	n/a
3	STAT3	chr8:117861361-117862288	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117860936..117862672-chr8:117885542..117887768,2	MCF-7	breast:

Variant related genes	Relation type
RAD21	TF binding region
ENSG00000264875	Chromatin interaction
ENSG00000164754	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10282816	0.97[ASN][1000 genomes]
rs11994196	1.00[ASW][hapmap]
rs12543129	0.97[ASN][1000 genomes]
rs12548062	0.91[AMR][1000 genomes]
rs12548885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12548895	0.97[ASN][1000 genomes]
rs1348797	0.97[ASN][1000 genomes]
rs14795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16888870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17805852	1.00[AFR][1000 genomes]
rs2241981	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2241982	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2289937	0.82[MEX][hapmap]
rs2921754	0.89[ASN][1000 genomes]
rs2921756	0.94[ASN][1000 genomes]
rs2921757	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2921758	0.94[ASN][1000 genomes]
rs2921770	0.97[ASN][1000 genomes]
rs2921771	0.97[ASN][1000 genomes]
rs2921772	0.97[ASN][1000 genomes]
rs2921773	0.97[ASN][1000 genomes]
rs2921774	0.97[ASN][1000 genomes]
rs2921775	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2921776	0.97[ASN][1000 genomes]
rs2921777	0.97[ASN][1000 genomes]
rs2921778	0.97[ASN][1000 genomes]
rs2921779	0.97[ASN][1000 genomes]
rs2921780	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2921781	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2921782	0.97[ASN][1000 genomes]
rs2921783	0.97[ASN][1000 genomes]
rs2921784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2921785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2921786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2921787	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.97[ASN][1000 genomes]
rs2921788	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2921789	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2921790	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3020109	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3020111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3020118	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3020123	1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs3020124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3020125	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3020126	0.97[ASN][1000 genomes]
rs3020128	0.97[ASN][1000 genomes]
rs3020130	0.97[ASN][1000 genomes]
rs3020131	0.97[ASN][1000 genomes]
rs3020133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3020134	0.97[ASN][1000 genomes]
rs3020135	1.00[ASN][1000 genomes]
rs3020136	0.97[ASN][1000 genomes]
rs3020138	0.97[ASN][1000 genomes]
rs3020139	0.97[ASN][1000 genomes]
rs3020140	0.97[ASN][1000 genomes]
rs3020142	0.97[ASN][1000 genomes]
rs3020174	0.92[JPT][hapmap]
rs3020181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs35189908	0.87[ASN][1000 genomes]
rs56095633	0.97[ASN][1000 genomes]
rs57202151	0.97[ASN][1000 genomes]
rs62510193	1.00[AFR][1000 genomes]
rs6996153	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap]
rs72683604	1.00[AFR][1000 genomes]
rs73308288	0.81[ASN][1000 genomes]
rs73308296	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 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	chr8:117848400-117863800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:117852400-117877000	Weak transcription	Fetal Intestine Small	intestine
3	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:117854800-117863800	Weak transcription	Gastric	stomach
5	chr8:117854800-117875000	Strong transcription	Dnd41	blood
6	chr8:117855200-117870400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:117855400-117872800	Strong transcription	Stomach Smooth Muscle	stomach
8	chr8:117856000-117870600	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr8:117856000-117872800	Strong transcription	Fetal Intestine Large	intestine
10	chr8:117856000-117873000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:117856000-117874000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr8:117856200-117869400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:117856200-117872000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:117856200-117873800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr8:117856200-117877000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:117856400-117873000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:117856400-117873000	Strong transcription	Liver	Liver
18	chr8:117856400-117875200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:117856400-117878400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr8:117856400-117879000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr8:117856400-117882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:117856600-117867000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:117856600-117875400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:117856600-117875800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:117856800-117874200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:117856800-117875000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:117856800-117877600	Strong transcription	HSMM	muscle
28	chr8:117856800-117878800	Strong transcription	Fetal Thymus	thymus
29	chr8:117857000-117879200	Strong transcription	Hela-S3	cervix
30	chr8:117857200-117875800	Strong transcription	HUVEC	blood vessel
31	chr8:117857200-117878000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:117857400-117872800	Strong transcription	Fetal Muscle Leg	muscle
33	chr8:117857400-117875200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr8:117857400-117877600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr8:117857600-117871600	Strong transcription	NH-A	brain
36	chr8:117857600-117873400	Strong transcription	Placenta	Placenta
37	chr8:117857600-117875200	Strong transcription	A549	lung
38	chr8:117857600-117878400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr8:117857800-117875600	Strong transcription	HMEC	breast
40	chr8:117858000-117870800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:117858000-117875200	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:117858000-117879000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr8:117858200-117878400	Strong transcription	Primary B cells from cord blood	blood
44	chr8:117858400-117870400	Strong transcription	Adipose Nuclei	Adipose
45	chr8:117858400-117871000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:117858400-117871000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:117858400-117875000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:117858400-117875800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:117858600-117864800	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr8:117858600-117865400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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