Variant report

Variant	rs263993
Chromosome Location	chr1:45440440-45440441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45430590..45432812-chr1:45438899..45441605,3	K562	blood:
2	chr1:45430590..45432812-chr1:45438899..45441605,2	K562	blood:
3	chr1:45436208..45437832-chr1:45438280..45440463,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11573544	0.86[ASN][1000 genomes]
rs12072767	1.00[JPT][hapmap]
rs12407290	1.00[YRI][hapmap]
rs196764	1.00[AMR][1000 genomes]
rs2234479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2265603	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2355951	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263957	1.00[AMR][1000 genomes]
rs263958	0.86[ASN][1000 genomes]
rs263959	1.00[AMR][1000 genomes]
rs263963	1.00[AMR][1000 genomes]
rs263968	1.00[AMR][1000 genomes]
rs263972	1.00[AMR][1000 genomes]
rs263974	1.00[AMR][1000 genomes]
rs263976	1.00[AMR][1000 genomes]
rs263983	1.00[AMR][1000 genomes]
rs263984	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs263995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs264000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264001	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs264003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs264012	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs264016	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264017	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs264018	1.00[AFR][1000 genomes]
rs2883814	1.00[AFR][1000 genomes]
rs3738249	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3923304	1.00[YRI][hapmap]
rs410800	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs411976	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41269097	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269101	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41306605	0.87[ASN][1000 genomes]
rs428928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs430057	1.00[AMR][1000 genomes]
rs449870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660292	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs474207	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492515	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs506691	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547476	1.00[AMR][1000 genomes]
rs577647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs638062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6429554	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs662660	1.00[AMR][1000 genomes]
rs7512137	0.87[ASN][1000 genomes]
rs7533668	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429139	1.00[AFR][1000 genomes];1.00[AMR][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	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	esv2830314	chr1:45430218-45455285	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45389200-45450200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:45392800-45443200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:45412800-45441000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:45413400-45441400	Weak transcription	Brain Anterior Caudate	brain
5	chr1:45413600-45441400	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:45413600-45442800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:45413800-45441600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:45414000-45441000	Weak transcription	Fetal Kidney	kidney
9	chr1:45414000-45441600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:45414000-45443200	Weak transcription	Pancreas	Pancrea
11	chr1:45414000-45450800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:45414000-45451000	Weak transcription	Spleen	Spleen
13	chr1:45414200-45443000	Weak transcription	Gastric	stomach
14	chr1:45416600-45443600	Weak transcription	Psoas Muscle	Psoas
15	chr1:45417600-45442000	Weak transcription	Placenta	Placenta
16	chr1:45421000-45450800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:45421400-45443400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:45422000-45441400	Weak transcription	Esophagus	oesophagus
19	chr1:45423600-45441400	Weak transcription	NHLF	lung
20	chr1:45424200-45440800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:45424600-45441400	Weak transcription	Lung	lung
22	chr1:45424600-45443200	Weak transcription	Thymus	Thymus
23	chr1:45424800-45440600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:45424800-45445600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:45425000-45445600	Weak transcription	Aorta	Aorta
26	chr1:45425600-45443400	Weak transcription	HSMMtube	muscle
27	chr1:45429200-45440800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:45430600-45441600	Weak transcription	HepG2	liver
29	chr1:45430800-45440800	Weak transcription	NHEK	skin
30	chr1:45430800-45450800	Weak transcription	Brain Substantia Nigra	brain
31	chr1:45432200-45443800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:45432400-45442200	Weak transcription	Brain Germinal Matrix	brain
33	chr1:45432600-45440800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:45432600-45440800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:45432600-45442000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:45433200-45451000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:45433400-45443000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:45434400-45450800	Weak transcription	Small Intestine	intestine
39	chr1:45435600-45440800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:45435600-45444200	Strong transcription	Primary T cells from cord blood	blood
41	chr1:45435600-45447400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:45435600-45447600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:45436000-45447000	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:45436200-45446800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:45436400-45450800	Weak transcription	HMEC	breast
46	chr1:45436600-45440600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:45436600-45440600	Weak transcription	K562	blood
48	chr1:45436600-45440800	Weak transcription	HSMM	muscle
49	chr1:45436600-45450800	Weak transcription	Stomach Mucosa	stomach
50	chr1:45436800-45442000	Weak transcription	NH-A	brain

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