Variant report

Variant	rs12500744
Chromosome Location	chr4:15756908-15756909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15642778..15644328-chr4:15756806..15758696,2	MCF-7	breast:
2	chr4:15756091..15759053-chr4:15760303..15762164,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12502292	0.80[EUR][1000 genomes]
rs16892370	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16892390	0.84[EUR][1000 genomes]
rs4464559	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58156049	0.82[AMR][1000 genomes]
rs6828371	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6837105	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs884473	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15752600-15767600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:15754800-15757200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:15754800-15757400	Enhancers	Primary hematopoietic stem cells	blood
4	chr4:15755000-15757200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr4:15755000-15757200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr4:15755000-15757800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr4:15755000-15757800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:15755000-15758400	Enhancers	HUVEC	blood vessel
9	chr4:15755200-15757200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:15755200-15757600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr4:15755200-15757800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:15755200-15757800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr4:15755200-15757800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr4:15755200-15757800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr4:15755400-15757400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:15755400-15757800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr4:15755400-15757800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:15755600-15757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:15755600-15759000	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr4:15755600-15760400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:15755800-15757600	Enhancers	Primary B cells from cord blood	blood
22	chr4:15755800-15758000	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:15755800-15759200	Flanking Active TSS	Dnd41	blood
24	chr4:15756000-15757200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:15756200-15757200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:15756200-15757200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:15756200-15757200	Weak transcription	Hela-S3	cervix
28	chr4:15756200-15757200	Weak transcription	NH-A	brain
29	chr4:15756200-15757200	Weak transcription	Osteobl	bone
30	chr4:15756200-15757800	Weak transcription	Spleen	Spleen
31	chr4:15756400-15757200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:15756400-15757200	Flanking Active TSS	Fetal Thymus	thymus
33	chr4:15756400-15757400	Weak transcription	HMEC	breast
34	chr4:15756400-15757600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr4:15756400-15757600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:15756600-15757200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr4:15756600-15757600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr4:15756800-15757000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:15756800-15757200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:15756800-15757400	Flanking Active TSS	Thymus	Thymus
41	chr4:15756800-15757400	Enhancers	GM12878-XiMat	blood

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