Variant report

Variant	rs7537818
Chromosome Location	chr1:84947553-84947554
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84943703..84948095-chr1:85037647..85043843,8	K562	blood:
2	chr1:84946525..84949349-chr1:84951021..84952787,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117151	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11163969	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11163970	0.96[ASN][1000 genomes]
rs11163979	0.98[ASN][1000 genomes]
rs11163980	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11163981	0.98[ASN][1000 genomes]
rs11163990	0.94[ASN][1000 genomes]
rs11163994	0.98[ASN][1000 genomes]
rs11163999	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1144276	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12036957	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040469	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12071149	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12128801	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12403545	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1246159	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1246236	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1246253	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1246254	0.92[ASN][1000 genomes]
rs1246255	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1400777	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1533374	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2292191	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2389743	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2659173	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2677839	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2794217	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2794218	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2911593	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2994954	0.89[ASN][1000 genomes]
rs2994955	0.88[ASN][1000 genomes]
rs3021402	0.87[ASN][1000 genomes]
rs312397	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs312401	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4906995	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4906997	0.87[ASN][1000 genomes]
rs4907078	0.92[ASN][1000 genomes]
rs6576713	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6576715	0.81[ASN][1000 genomes]
rs6692765	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6704211	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7516200	0.90[ASN][1000 genomes]
rs9645393	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers 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	40 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	chr1:84945600-84949000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:84946000-84948600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:84946000-84949000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:84946000-84949000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:84946000-84956400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:84946000-84956400	Weak transcription	Gastric	stomach
7	chr1:84946000-84956400	Weak transcription	Spleen	Spleen
8	chr1:84946000-84965800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:84946000-84967000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:84946000-84969600	Weak transcription	Esophagus	oesophagus
11	chr1:84946000-84970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:84946000-84970800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:84946200-84947600	Weak transcription	Brain Substantia Nigra	brain
14	chr1:84946200-84948600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:84946200-84948600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:84946200-84949000	Weak transcription	Fetal Stomach	stomach
17	chr1:84946200-84949200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:84946200-84955200	Weak transcription	Right Ventricle	heart
19	chr1:84946200-84956200	Weak transcription	Colonic Mucosa	Colon
20	chr1:84946200-84962800	Weak transcription	HSMMtube	muscle
21	chr1:84946400-84947600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:84946400-84947600	Enhancers	HepG2	liver
23	chr1:84946400-84947800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:84946400-84948000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:84946400-84948200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:84946400-84948600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:84946400-84948600	Weak transcription	Osteobl	bone
28	chr1:84946400-84948800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:84946400-84949000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:84946400-84949400	Weak transcription	NH-A	brain
31	chr1:84946400-84955200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:84946400-84955600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:84946400-84956200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:84946400-84956400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:84946400-84962000	Weak transcription	Fetal Brain Male	brain
36	chr1:84946400-84962800	Weak transcription	Stomach Mucosa	stomach
37	chr1:84946600-84947600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:84946600-84947800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:84946600-84947800	Enhancers	A549	lung
40	chr1:84946600-84948200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:84946600-84948200	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr1:84946600-84948600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:84946600-84950800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:84946600-84955600	Weak transcription	Brain Germinal Matrix	brain
45	chr1:84946600-84956400	Weak transcription	Psoas Muscle	Psoas
46	chr1:84946800-84947600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:84946800-84947800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr1:84946800-84948000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr1:84946800-84948400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr1:84946800-84948600	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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