Variant report

Variant	rs2054900
Chromosome Location	chr8:59514535-59514536
allele	A/G
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	TEAD4	chr8:59514385-59514792	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr8:59514520-59514670	HRPEpiC	eye:	n/a	n/a
3	CTCF	chr8:59514480-59514630	HAc	cerebellar:	n/a	n/a
4	TEAD4	chr8:59514387-59514716	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr8:59514520-59514670	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59513092..59517407-chr8:59519565..59524210,4	K562	blood:
2	chr8:59508283..59510200-chr8:59512626..59515081,2	MCF-7	breast:

Variant related genes	Relation type
NSMAF	TF binding region
ENSG00000035681	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10086130	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10086457	0.96[ASN][1000 genomes]
rs10093782	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10098355	1.00[EUR][1000 genomes]
rs16923547	0.82[JPT][hapmap]
rs16923631	1.00[EUR][1000 genomes]
rs2228505	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2279459	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28548238	1.00[EUR][1000 genomes]
rs3816847	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737505	1.00[EUR][1000 genomes]
rs4738695	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738696	0.94[ASN][1000 genomes]
rs55658192	0.94[ASN][1000 genomes]
rs58627447	1.00[EUR][1000 genomes]
rs58866790	1.00[EUR][1000 genomes]
rs60289621	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60504120	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60534391	0.95[ASN][1000 genomes]
rs60780937	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6991479	0.95[ASN][1000 genomes]
rs6991644	0.95[ASN][1000 genomes]
rs7816499	0.94[ASN][1000 genomes]
rs7841618	0.95[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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1031537	chr8:59482949-59536971	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59472800-59515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:59480600-59515800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:59483800-59528000	Strong transcription	Dnd41	blood
5	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
6	chr8:59500200-59524600	Weak transcription	HepG2	liver
7	chr8:59500600-59521000	Weak transcription	Fetal Heart	heart
8	chr8:59500600-59528800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:59503000-59545400	Weak transcription	Esophagus	oesophagus
10	chr8:59506000-59516800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:59507600-59521800	Weak transcription	Spleen	Spleen
13	chr8:59507600-59524800	Weak transcription	Fetal Kidney	kidney
14	chr8:59507600-59525200	Weak transcription	Ovary	ovary
15	chr8:59507600-59545400	Weak transcription	Gastric	stomach
16	chr8:59508000-59515800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:59508000-59521000	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:59508000-59523400	Weak transcription	Pancreas	Pancrea
19	chr8:59508000-59538800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:59508000-59545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:59508200-59515800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:59508200-59533800	Weak transcription	Small Intestine	intestine
23	chr8:59508200-59542200	Weak transcription	Aorta	Aorta
24	chr8:59508200-59542400	Weak transcription	Psoas Muscle	Psoas
25	chr8:59508800-59521000	Weak transcription	Fetal Brain Male	brain
26	chr8:59509000-59515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:59509000-59524000	Strong transcription	Fetal Thymus	thymus
28	chr8:59509000-59542200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:59509000-59543000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
31	chr8:59509200-59516800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr8:59509400-59514600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:59509600-59516200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:59509600-59523400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:59509800-59514600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:59509800-59515600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:59509800-59516200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:59509800-59520000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:59509800-59542400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:59510000-59519800	Weak transcription	Fetal Brain Female	brain
41	chr8:59510000-59523600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr8:59510200-59516000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:59510200-59516200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:59510200-59517400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:59510200-59518800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:59510200-59519800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:59510200-59523000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr8:59510200-59524600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:59510200-59526800	Weak transcription	Brain Angular Gyrus	brain
50	chr8:59510200-59527200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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