Variant report

Variant	rs146250
Chromosome Location	chr6:142888515-142888516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:142887945..142888620-chr6:143748282..143748998,3	K562	blood:
2	chr6:142888070..142889007-chr6:143658493..143659311,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11155255	1.00[CEU][hapmap]
rs12214216	1.00[CEU][hapmap]
rs17527704	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs187811	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2202900	0.82[CEU][hapmap]
rs263106	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs263117	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs263128	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs263136	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs263153	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs263170	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs263173	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs865141	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9390000	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1023426	chr6:142813845-142940262	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830827	chr6:142840734-143015005	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv520479	chr6:142869099-142908146	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142873600-142888800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:142882600-142889400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:142883400-142890400	Weak transcription	Stomach Mucosa	stomach
4	chr6:142883600-142889400	Weak transcription	Fetal Thymus	thymus
5	chr6:142884200-142890200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:142885200-142891000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:142887400-142890200	Enhancers	Primary T cells from cord blood	blood
8	chr6:142887600-142892200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr6:142887600-142892200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr6:142887600-142892200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr6:142887600-142892600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr6:142887800-142888600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:142887800-142890200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr6:142887800-142890800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr6:142887800-142892000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr6:142887800-142892200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:142888000-142891400	Enhancers	HMEC	breast
18	chr6:142888000-142892800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:142888200-142888600	Enhancers	Fetal Lung	lung
20	chr6:142888200-142888800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:142888200-142888800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:142888200-142889000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr6:142888200-142892000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr6:142888200-142892200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:142888400-142888800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:142888400-142888800	Enhancers	Liver	Liver
27	chr6:142888400-142889200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:142888400-142889400	Weak transcription	HSMM	muscle
29	chr6:142888400-142889400	Weak transcription	NH-A	brain
30	chr6:142888400-142889600	Weak transcription	NHDF-Ad	bronchial
31	chr6:142888400-142891800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr6:142888400-142893400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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