Variant report

Variant	rs2921782
Chromosome Location	chr8:117883005-117883006
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr8:117882994-117883194	MCF10A-Er-Src	breast:	n/a	n/a
2	REST	chr8:117882916-117883350	PFSK-1	brain:	n/a	n/a
3	TEAD4	chr8:117882920-117883375	ECC-1	luminal epithelium:	n/a	n/a
4	REST	chr8:117882916-117883315	Hela-S3	cervix:	n/a	n/a
5	REST	chr8:117882987-117883300	ECC-1	luminal epithelium:	n/a	n/a
6	MXI1	chr8:117882966-117883313	Hela-S3	cervix:	n/a	n/a
7	REST	chr8:117882976-117883380	ECC-1	luminal epithelium:	n/a	n/a
8	MXI1	chr8:117882866-117883364	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:117882604-117887373	K562	blood:	n/a	n/a
10	RAD21	chr8:117883002-117883362	Hela-S3	cervix:	n/a	n/a
11	REST	chr8:117882931-117883308	MCF-7	breast:	n/a	n/a
12	BRCA1	chr8:117882709-117883303	Hela-S3	cervix:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117882042..117883991-chr8:117888629..117890364,2	K562	blood:

No data

Variant related genes	Relation type
RAD21	TF binding region
RAD21-AS1	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10094803	1.00[EUR][1000 genomes]
rs10282816	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10283144	1.00[EUR][1000 genomes]
rs10283150	1.00[EUR][1000 genomes]
rs11990712	1.00[EUR][1000 genomes]
rs12543129	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12548885	0.93[ASN][1000 genomes]
rs12548895	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1348797	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14795	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16888870	0.94[ASN][1000 genomes]
rs16888925	1.00[EUR][1000 genomes]
rs16888945	1.00[EUR][1000 genomes]
rs16889007	1.00[EUR][1000 genomes]
rs16889037	1.00[EUR][1000 genomes]
rs16889074	1.00[EUR][1000 genomes]
rs16889209	1.00[EUR][1000 genomes]
rs16889218	1.00[EUR][1000 genomes]
rs16889220	1.00[EUR][1000 genomes]
rs16889226	1.00[EUR][1000 genomes]
rs17435846	1.00[EUR][1000 genomes]
rs17435860	1.00[EUR][1000 genomes]
rs1838839	1.00[EUR][1000 genomes]
rs2241981	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2241982	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2289937	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28462971	1.00[EUR][1000 genomes]
rs2921754	0.92[ASN][1000 genomes]
rs2921756	0.97[ASN][1000 genomes]
rs2921757	0.97[ASN][1000 genomes]
rs2921758	0.97[ASN][1000 genomes]
rs2921770	1.00[ASN][1000 genomes]
rs2921771	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921772	1.00[ASN][1000 genomes]
rs2921773	1.00[ASN][1000 genomes]
rs2921774	1.00[ASN][1000 genomes]
rs2921775	1.00[ASN][1000 genomes]
rs2921776	1.00[ASN][1000 genomes]
rs2921777	1.00[ASN][1000 genomes]
rs2921778	1.00[ASN][1000 genomes]
rs2921779	1.00[ASN][1000 genomes]
rs2921780	1.00[ASN][1000 genomes]
rs2921781	1.00[ASN][1000 genomes]
rs2921783	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921784	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921785	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921786	1.00[ASN][1000 genomes]
rs2921787	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921788	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921789	0.97[ASN][1000 genomes]
rs2921790	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2921791	0.97[ASN][1000 genomes]
rs3020109	0.94[ASN][1000 genomes]
rs3020111	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020118	1.00[ASN][1000 genomes]
rs3020124	1.00[ASN][1000 genomes]
rs3020125	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020126	1.00[ASN][1000 genomes]
rs3020128	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020130	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020133	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3020134	1.00[ASN][1000 genomes]
rs3020135	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3020136	1.00[ASN][1000 genomes]
rs3020138	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020139	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020140	1.00[ASN][1000 genomes]
rs3020142	1.00[ASN][1000 genomes]
rs3020181	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35189908	0.84[ASN][1000 genomes]
rs55952416	1.00[EUR][1000 genomes]
rs56095633	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57202151	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6469664	1.00[EUR][1000 genomes]
rs6993568	1.00[EUR][1000 genomes]
rs73308296	0.91[ASN][1000 genomes]
rs7820245	1.00[EUR][1000 genomes]
rs7831930	1.00[EUR][1000 genomes]
rs7836088	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv891407	chr8:117881393-117895239	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117859600-117883800	Weak transcription	Stomach Mucosa	stomach
2	chr8:117860400-117885800	Weak transcription	Esophagus	oesophagus
3	chr8:117864400-117885800	Weak transcription	Gastric	stomach
4	chr8:117864800-117884000	Weak transcription	Right Ventricle	heart
5	chr8:117865200-117885800	Weak transcription	Pancreas	Pancrea
6	chr8:117865600-117885800	Weak transcription	Spleen	Spleen
7	chr8:117867000-117885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:117867000-117885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:117870000-117884400	Weak transcription	Colonic Mucosa	Colon
10	chr8:117870200-117884800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:117872600-117884400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:117876000-117884600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:117876200-117883200	Weak transcription	Fetal Intestine Large	intestine
14	chr8:117877200-117884000	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr8:117877400-117885000	Enhancers	Fetal Heart	heart
16	chr8:117877800-117884400	Weak transcription	Fetal Intestine Small	intestine
17	chr8:117877800-117884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:117878200-117884400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:117878400-117884200	Weak transcription	Fetal Stomach	stomach
20	chr8:117878400-117884600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:117878400-117884800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:117878600-117884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:117878600-117884800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:117878800-117885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:117879000-117883200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:117879000-117883200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr8:117879000-117884400	Enhancers	A549	lung
28	chr8:117879000-117884600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:117879000-117884600	Weak transcription	Brain Substantia Nigra	brain
30	chr8:117879600-117883600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:117879600-117884600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr8:117879600-117885000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr8:117879800-117884000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:117879800-117884600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:117880000-117884000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr8:117880000-117884800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr8:117880200-117884200	Weak transcription	Brain Anterior Caudate	brain
38	chr8:117880200-117884800	Weak transcription	Brain Angular Gyrus	brain
39	chr8:117880400-117883200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:117880600-117883200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:117880600-117883200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:117880600-117884200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr8:117880600-117884200	Weak transcription	Aorta	Aorta
44	chr8:117880800-117883800	Enhancers	HSMM	muscle
45	chr8:117880800-117884400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr8:117881000-117883400	Enhancers	Primary T cells fromperipheralblood	blood
47	chr8:117881000-117884400	Enhancers	Thymus	Thymus
48	chr8:117881200-117883600	Weak transcription	Primary B cells from cord blood	blood
49	chr8:117881200-117884400	Enhancers	HepG2	liver
50	chr8:117881200-117884600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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