Variant report

Variant	rs1217404
Chromosome Location	chr1:114392559-114392560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114390853..114392671-chr1:114469373..114472288,2	K562	blood:
2	chr1:114391438..114393621-chr1:114396870..114398457,3	MCF-7	breast:
3	chr1:114391712..114394438-chr1:114470250..114472352,2	MCF-7	breast:
4	chr1:114391462..114393060-chr1:114393334..114395012,2	MCF-7	breast:
5	chr1:114391050..114392741-chr1:114424919..114426499,2	MCF-7	breast:
6	chr1:114391828..114393538-chr1:114410364..114411907,2	MCF-7	breast:
7	chr1:114391365..114395021-chr1:114417111..114420542,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163349	Chromatin interaction
ENSG00000235527	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1217378	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1217379	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1217385	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1217405	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1217406	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1217408	0.83[AFR][1000 genomes]
rs1217409	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1217411	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1217418	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1217419	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1217420	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1235005	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1310182	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1539437	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1970559	0.80[AFR][1000 genomes]
rs2476600	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2476602	0.80[AFR][1000 genomes]
rs2476604	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2797416	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3789600	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4991898	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6537798	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6665194	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6672018	0.90[EUR][1000 genomes]
rs7555634	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114355000-114401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:114355000-114401000	Weak transcription	Spleen	Spleen
3	chr1:114355800-114397400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:114355800-114413000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:114377600-114392800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:114377600-114392800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:114378000-114402600	Weak transcription	Colonic Mucosa	Colon
8	chr1:114379000-114393000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:114388000-114393200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:114389800-114392600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:114390600-114397000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:114390800-114394000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:114390800-114394200	Weak transcription	GM12878-XiMat	blood
14	chr1:114390800-114400200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:114391000-114395600	Weak transcription	Thymus	Thymus
16	chr1:114391000-114396600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:114391200-114393000	Weak transcription	Primary T cells from cord blood	blood
18	chr1:114391200-114393200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:114391200-114397000	Weak transcription	Fetal Thymus	thymus
20	chr1:114391200-114401800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:114391400-114392600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:114391400-114393200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:114391400-114396800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:114391400-114396800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:114391600-114393000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:114391600-114393000	Weak transcription	Dnd41	blood
27	chr1:114391600-114393200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:114391600-114393400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:114391800-114392600	Weak transcription	Primary B cells from cord blood	blood
30	chr1:114391800-114393200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:114392000-114393000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:114392000-114393200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:114392200-114392800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:114392200-114393000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:114392200-114394400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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